An Ethics of Reproductive Choice:
Genetic Counselling and Prenatal Diagnosis
Viviane Morrigan
PhD
2002
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Frontispiece:
Patricia Piccinini (b. Siera Leone, 1965) Psychotourism. Type C photograph.
1996. Purchased by the National Gallery of Victoria, 1998 (Catalogue No 1998.
253)
‘This work continues Piccinini’s exploration of modern advances in genetic engineering and “consumer medicine” and their ramifications. The photograph shows a woman holding a baby in a computer-enhanced sublime landscape. This is not a human child but a LUMP (Life Form with
Unresolved Mutant Properties)—a commercially available, genetically manipulated “designer” baby. Piccinini states: “LUMP is the human form completely redesigned by an engineer and an ad agency—physiognomically efficient and marketably cute.” In this photograph Piccinini has adroitly used computer technology to mimic the ploys of the advertising world. She has produced a poster-sized image of disturbing perfection in which life itself is on sale.’ (National Gallery of Victoria, October, 1998)
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Abstract
For this project I describe the socio-historical development of a particular application of genetic prenatal diagnosis, in terms of changing social relations that govern an ethics of reproductive choice. I examine ways that medicine and government articulate prenatal diagnosis to problematise the maternal body and govern women’s reproductive choices about chromosomal abnormality in the fetus.
Since its introduction in the early 1970s, the major use of prenatal diagnosis has been to detect chromosomal abnormalities—in particular, Down syndrome—in the fetus. Medico-scientific knowledge claims negotiated in everyday practices in the genetic counselling clinic between health professionals and their clients are situated within broader social relations. Negotiations between medicine and government have produced technoscientific possibilities, realised with greater or lesser success in the co-construction of a workable prenatal diagnosis standardised package. I describe how these socio-technical relations have produced similarities and differences across time, and national and professional boundaries. My analysis draws on observations in three genetic counselling clinics, and of the health professionals’ other work activities. I also draw on interviews with them and other actors in that arena, as well as claims made about prenatal diagnosis technologies in the medico-scientific literature. I analyse my data using concepts developed in social worlds/arenas theory within a Foucauldian framework of social relations that govern the body.
Since the early formation of a standardised package of genetic counselling about amniocentesis, ethical decisions about prenatal diagnosis have identified page ii multiple parts of the self to be governed. This ethics has relied on a duty to make genetically responsible decisions as a particular way to relate to oneself, although it has been expressed in different ways. Newer technologies have articulated greater ethical possibilities for governing the self by co-constructing new ways of assembling the constituent components. Throughout, there have been tensions between two major aims for governing the self: that of giving birth to a healthy baby, and that of managing maternal rationality in order to act as an autonomous rational individual. I have thus described how a woman’s use of prenatal diagnosis is not simply one of individual choice. Her decision is a complex ethical one that is historically and socially contingent on relations between medicine and government that present the maternal body in certain ways for her to act upon herself.
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Acknowledgements
My first thanks go to Eveleen Richards and Nicolas Rasmassun who have supervised my postgraduate work on this project. When I first enrolled at the
University of Wollongong, I was fortunate in finding Ev was available and willing to renew her supervisory relationship with me, after she had previously guided me to successfully obtain an MA (Hons) in Technology and Social Change. I am very grateful for the many gifts that Ev has given me since then. She has gently yet firmly guided my intellectual development, at the same time giving me a sense of freedom to develop my own interests—even when they have appeared to move in directions different from hers methodologically, theoretically and politically. Ev also gave me invaluable support in my efforts to gain experience and skills in teaching and paid research work, which provided me with a means of financial survival as well as additional academic knowledge and skills. My decision to follow Ev to the University of New South Wales brought other changes, including Nick as my new supervisor. I am grateful to Nick for his willingness to take me on, when I was in the later stages of developing my ideas and funding from my scholarship had ended. I have appreciated especially his thought-provoking questions and hope that you, the reader, will benefit from my efforts to respond to his exhortations to eliminate jargon and simplify expression.
Others beyond the academic arena have fostered and sustained my committed interest in examining questions about women’s uses of prenatal diagnosis technologies. I thank Graeme Morgan for providing me initial opportunities when I worked with him and others on medical genetics policy and page iv planning, and more recently for reading and commenting on drafts of part of my thesis. Mary Day, Tina Slon and Tor Westley-Wise all read and gave me valuable comments on parts or all of the thesis, providing me with their different individual insights as well as their supportive friendship. I treasure Peg Guy’s weekly phone calls that lovingly sustained me emotionally during the later stages of writing up. I also thank my father, Don Colless, for providing me with the financial means to focus myself in my final writing efforts. Lastly, I am grateful to
Marianne Himmelreich and Georganne Ylias for their constant support of my spirit of inquiry, which further helped me to discover new ways of understanding and working with my creativity and how this may best benefit others.
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Contents Page No Chapters 1. Introduction: Normalising bodies and technologies 1
1.1. Aim of study 1
1.2. Theoretical tools 9
1.2.1. Debates in current understandings of prenatal diagnosis 9
1.2.2. Social worlds/arenas, boundary objects, and standardised packages 20
1.2.3. Ethics and the government of the body 28
1.3. Methods of investigation 35
1.4. Organization of this study 44
2. Regulating reproduction: Generating abnormal bodies 49
2.1. Introduction 49
2.2. Problematising fetal abnormality 52
2.3. Measuring risk of fetal abnormality 57
2.4. Claiming a primary role for genetics in fetal abnormality 60
2.4.1. Professional and institutional elements 60
2.4.2. Chromosomal difference 64
2.4.3. Genetic termination 70
2.5. Materialising and problematising Down syndrome 79
2.5.1. Diagnostic tools and the certainty of the karyotype 79
2.5.2. Prognostic uncertainties 88
2.5.3. Resisting medico-scientific constructions of Down syndrome 93
2.6. Claiming maternal origins of chromosomal abnormality 103
2.7. Chapter summary: Governing abnormal bodies through generational time and space 116 page vi
3. Disciplining reproductive choice: Genetic counselling as a technology of the self 120
3.1. Introduction 120
3.2. Eugenics and professional ethics 121
3.3. Heterogeneous definitions of genetic counselling 130
3.4. Disciplining genetic counselling 144
3.4.1. The formation of human genetics 144
3.4.2. The formation of a medical genetics arena 154
3.4.3. Professional regulation and prenatal diagnosis 165
The 1970s 165
The 1980s 170
The 1990s to the present 176
3.4.4. The genetic counsellor and prenatal diagnosis 182
The 1970s 183
The 1980s 185
The 1990s to the present 196
3.5. Chapter summary: Disciplining a technology for governing the self 208
4. Disciplining technology: Does it work? Is it safe? 211
4.1. Does it work? Fetal and technological normalisation 212
4.1.1 Constructing fetal bodies 215
A subdivided body and sampling procedures 216
A genetic body and similarity 221
An anatomical body and genetic difference 223
A biochemical body and complexity 226
Summary 230 page vii
4.1.2 Diagnostic certainty about the fetal body 230
Consent and uncertainty 232
Amniocentesis 237
CVS 240
Ultrasound 246
Maternal serum screening 258
4.2. Is it safe? Fetal harm 269
4.2.1 Amniocentesis: A very safe diagnostic procedure 270
Procedure-related miscarriage 270
4.2.2 CVS: A very low risk diagnostic procedure at a vulnerable time in pregnancy 277
Procedure-related miscarriage 277
Transabdominal vs transcervical methods 282
Fetal limb abnormalities 287
4.2.3 Ultrasound: A non-invasive screening test 294
4.2.4 Maternal serum screening: A no risk non-invasive screening test 299
4.3 Chapter summary: Governing the assembly of technobodies 300
5. Regulating access to prenatal diagnosis: Governing populations and eugenic ‘monster’ stories 305
5.1. Introduction 305
5.2. Maternal age screening and the prenatal diagnosis standardised package 308
5.2.1. The clinic as a localised regulatory site 308
5.2.2. Global and national regulation 317
5.2.3. Abortion 334
5.3. Maternal serum screening 338 page viii
5.3.1. Introduction 339
5.3.2. AFP screening for neural tube abnormalities 340
5.3.3. AFP screening for Down syndrome (1984-1988) 344
5.3.4. Invention and diffusion of the triple screen (1988- 1992) 350
5.3.5. Global and national regulation 361
5.4. Chapter summary: Governing access to prenatal diagnosis 368
6. Conclusion: Governing the maternal body 372
6.1. Introduction 372
6.2. Identifying bodies or maternal body parts to be governed 375
6.3. Ways of relating to the maternal body 381
6.4. Technologies for governing the maternal body 385
6.5. Aims for governing the maternal body 389
6.6. Chapter summary: An ethics of reproductive choice 392
Appendices 1. Letter sent to client before genetic counselling appointment 395
2. Information sheet provided to all participants in study 396
3. Consent form for clients of genetic counselling in study 397
4. Consent form for health professionals in study 399
5. Interview schedule/prompts 401
6. Negotiating institutional ethics committees (IECs): Empirical research as ‘science’ and the changing role of IECs in Australia 402
7. Committees in Commonwealth Department of Health and Ageing relevant to this project 407
Key to Appendix 7 408
8. Medical Services Advisory Committee (MSAC) membership as at June 2002 410 page ix
Glossary 415
Bibliography 424
Figures and Tables
Frontispiece Patricia Piccinini. 1996. Psychotourism (type C photograph)
Figures 1. Prenatal diagnosis standardised package in the early 1990s 5
2. Prenatal diagnosis standardised package in the 1970s 25
3. Karyotype 81
4. Advertisement for corporate sponsorship of an Australian medical research organization 82
5. Maternal age-related risk of chromosomal abnormality in the fetus: table used in observed clinics 107
6. Maternal age-related risk of chromosomal abnormality in the fetus: graph of maternal age at 5-year intervals 108
7. Maternal age-related risk of chromosomal abnormality in the fetus: graph of maternal age at 1-year intervals 109
8. Representation of amniocentesis 218
9. Representations of CVS 219
10. Representation of the triple screen 229
Tables 1. Attendance at genetics clinic (GC7) according to purpose of visit and language group 312
2. Attendance at genetics clinic (GC7) for women aged 37 years or more 313
Notes to Tables 1 and 2 314 page 1
Chapter One
Introduction: Normalising Bodies and Technologies
1.1 Aim of study
The life of a natural population is portrayed as a lotto sack and the functionaries delegated by the life sciences have the task of verifying the regularity of its numbers before the players are allowed to draw them from the sack to fill their cards. At the beginning of this dream we have the generous ambition to spare innocent and impotent living beings the atrocious burden of producing errors of life. At the end there are the gene police, clad in the geneticists’ science. For all that, it should not be concluded that one is obliged to respect a genetic ‘laisser-faire, laisser- passer’, but only obliged to remind medical consciousness that to dream of absolute remedies is often to dream of remedies which are worse than the ill (Canguilhem 1978: 175).
Canguilhem, the French historian of the biosciences who was trained in both philosophy and medicine, expressed the above concerns about the dangers of genetics in his medical thesis written in the 1940s and published as a revised
English version in the 1960s (Rabinow 1994: 12). He warned about the limits for achieving the goal of human health through using genetic science to measure and control life according to a notion of a fixed biological norm.
Canguilhem’s studies on the role of the normal in health and illness led him to an early model of health as a dynamic product of social relations—of norms being constantly created, broken and remade. He did not contrast normality in a mutually exclusive binary with pathology (pathology— understood as illness—he stated, can be ‘normal’). Instead, he described how the concept of health itself is the result of a normative process of social relations: medicine uses norms about the body to construct transgressions, by labelling them pathological, in order to correct them, by restoring them to some static concept of normal (Canguilhem 1994: 351). Chapter one: normalising bodies and technologies page 2
My aim in this study is to draw on such ideas to construct a socio- historical analysis of prenatal diagnosis in terms of how medicine and government use technoscience1 normatively to govern an ethics2 of reproductive choice. I examine the social relations embedded in an ethics of technological choices that govern ‘facts’3 about bodies and chromosomal abnormality given by health professionals in the genetic counselling clinic
(described in Chapter two). They also are embedded in the formation of those professions and the norms they use for genetic counselling,4 and this is described in Chapter three. Chapter four examines the normative processes in the selection of particular technologies and techniques for discussion in genetic counselling, and of ‘facts’ about whether and how they work and if they are safe. Chapter five describes a fourth perspective on the normative processes, as they are expressed in medicine and government’s regulation of women’s access to the constituent parts of prenatal diagnosis. For my analysis I carried out extensive socio-historical research that centred on three genetic counselling clinics in a major Australian city in the early 1990s but located them within a broader historical and global perspective.
1 The term ‘technoscience’ is used to refer both to technologies and techniques, and to scientific knowledge claims and activities (Callon 1999; Casper and Berg 1995; Haraway 1997; Latour 1987; Law and Hassard 1999). In a search of the sociological literature I found it was used only once (Simonton 1980) before Latour first made it popular in the science and technology studies literature. 2 Ethics is defined here in terms of actions—as ethical practices (both discursively and actually performed) that refer to particular moral rules or codes (Foucault 1987: 25-26 & 29). See Section 1.2.3 for further elaboration. 3 The use of quotation marks signifies that health professionals and their clients in genetic counselling clinics do not generally acknowledge social content of knowledge claims claimed as objective facts. 4 I define genetic counselling as the activity of providing information about genetic abnormality. It is usually provided in a clinical setting by health professionals, such as clinical geneticists or genetic counsellors. At the genetic counselling clinics observed in this study, information about reproductive risks of fetal abnormality was provided to women and their significant others. Chapter one: normalising bodies and technologies page 3
As a model of ‘best practice’ for enabling people to make choices about how to use available prenatal diagnosis technologies, health professionals who do genetic counselling have adopted non-directiveness as a model and an aim. In Australia, the role of the genetic counsellor has been defined as:
To synthesize factual information and to develop the ability to communicate it clearly, non-directively, and without personal bias to people from greatly differing education, socio-economic, racial and ethnic backgrounds (HGSA 1991a: 5)
Thus, genetic counselling has been defined as the selection, interpretation and communication of ‘facts’ from both the professional’s and client’s5 education and personal experiences. The health professional draws on medicine and science to materialise and normalise a genetic body, and to describe the technologies and techniques that can treat abnormality as pathology. The pregnant woman, as client, can also participate in the work of genetic counselling. For example, her ethical work may have the goal of giving birth to a healthy child, or to prepare herself (and her family) for the birth of a child with disabilities. Such work involves translating facts into subjective meanings that govern her ethics of decision-making. Work done by the health professional who provides genetic counselling is guided by a
5 I use the term ‘client’ to identify the people who receive genetic counselling, to complement my identification of the clinic worker who provides genetic counselling as a health professional. In the clinics I observed for this study, as for much of genetic counselling which was largely done by doctors, the medical setting encouraged the term ‘patient’ to be used for the person who received the service. One medical geneticist in training made this clear when she said: “I see ‘patients’ not ‘clients’, because I’m a doctor’ (C33i1: 489). In the literature ‘client,’ ‘consultand’ and ‘counsellee’ have been popular. For example, Reed—the geneticist who established the term ‘genetic counselling’ (he worked with doctors but did not have medical training himself)—preferred the term ‘client’, as have genetic counsellors with social work and other non-medical training both in Australia and elsewhere (Rae 1994; Silverberg and Godmilow 1979). An early medical geneticist recommended the term ‘consultand’ (McKusick (1973) cited in Kessler 1979: 12), whilst others with similar training have preferred ‘counsellee’ (Fraser 1970). Chapter one: normalising bodies and technologies page 4 widely accepted ‘non-directive’ model that most health professionals agree, however, is an ideal aim rather than a practice. In this study, I aim not to judge genetic counselling work according to that ideal—in terms of ‘bias’ by the practitioners in their ability to conform to the norm of objectivity constructed by that ideal. Instead, my aim is to describe how people produce and use that norm of objectivity in genetic counselling, and in the truth claims they make about other constituent parts of the technoscientific package of prenatal diagnosis, as illustrated in Figure 1.6
The story I tell will, I hope, be useful to both the health professionals and the pregnant women who work with them in making decisions about using prenatal diagnosis. The world can be seen as a place of danger, as exemplified in the risk discourse7 used in genetic counselling. Ethics can be defined as a process of negotiating those dangers by making choices about choices—deciding which choices are more (or less) dangerous than others
(Foucault 2000b: 256). The introduction in the early 1970s of amniocentesis for diagnosing chromosomal abnormalities in the fetus expanded the notion of, and for many raised new questions about, ethics and reproductive choices.
Molecular genetics discoveries since then have received even more attention, with their promises of progress in the diagnosis of individual hereditary anomalies and their treatment according to a particular genetic norm.
Nevertheless, chromosomal abnormality remains a major object of
6 A prenatal diagnosis package includes prenatal screening tests (eg, ‘advanced maternal age’, maternal serum screening tests, ultrasound) and diagnostic procedures (eg, amniocentesis and CVS—chorionic villus sampling), genetic counselling, laboratory techniques and technologies that produce representations of the body such as the karyotype, abortion procedures, and genetic support groups. 7 I use a Foucauldian notion of discourse as a field of interconnected statements whose formation is unique to particular times and social practices (Foucault 1972: 117, 145). Ultrasound Pregnancy Continues Screen @ 16-18 wks Exit
+ve -ve Genetic Counselling
Genetic Test +ve Exit Maternal Genetic CVS Amniocentesis Ë Age Ë Counselling Ë @ 10-12 wks OR @ 15-18 wks Ë Karyotype Abortion Screen
-ve Exit Genetic Support Exit Maternal Group High Risk Serum Low Risk Exit Screen Exit @ 15-17 wks Exit
Genetic Counselling
Figure 1: Prenatal Diagnosis Package in Australia in the early 1990s Chapter one: normalising bodies and technologies page 6 daily practices of genetic counselling about prenatal diagnosis. Down syndrome is the most commonly identified chromosomal abnormality after prenatal diagnosis. Whilst medicine has had a long-standing view of Down syndrome as a serious health problem, prenatal diagnosis has problematised it in a new way, and I discuss this in Chapter one. However the technologies themselves have been problematised as consumers, health professionals, corporate decision-makers, policy makers, feminists, religious groups and individuals, disability activists, and others grapple with identifying their dangers.
Piccinini, the artist who produced the illustration in the Frontispiece, has provided a richly complex image of an ethics of reproductive choice. A white professional class woman, whose slim body is neatly dressed in her corporate uniform and whose hair is carefully arranged, appears to be showing her ‘baby’ the direction in which she is about to take it. Who or what is this baby? The artist has described it as a ‘LUMP (Life Form with
Unresolved Mutant Properties) … a human form completely redesigned by an engineer and an ad agency—physiognomically efficient and marketably cute.’8 It does not conform to any accepted notion of normality, yet somehow looks appealing—the attractive bow on top possibly representing a common means for beautifying a baby but also, perhaps, a gift-wrapped present or toy, a commodity for exchange. The people in medicine, science and government, and their technoscientific means for producing the baby (as well as the woman’s clothing and all her other means of subsistence) are a conspicuous
8 The comment was taken from notes provided with the artwork on display at the Victorian Art Gallery (October 1998). Chapter one: normalising bodies and technologies page 7 absence. The maternal body is alone in a primordial landscape that draws on and challenges Darwinian evolutionary theory and notions of progress. Is the woman moving away from the barren water and land from which life forms emerged, towards a better form of life? Is she holding such a new promising life form—a Frankensteinian monster—who, as in the 1818 Gothic horror story (Shelley 1993), is treated compassionately in contrast to technoscience and the people portrayed as having misused it? In what appears to be a departure from the original Gothic story, the dangerous people and their technologies have become invisible, in a world made up of autonomous decision-making individuals making ethical choices. Moreover, the landscape into which the woman is moving appears to be a brave new virtual world, itself made of other lumps (rock-like objects) and vegetation that do not appear natural. Is this a further commentary, or warning, about the new realities that technoscience is constructing? Is the artist challenging an ethics of science and medicine that offer new reproductive technologies as only progressive tools for a better world? My aim is to respond to commentaries and ethical questions raised by Piccinini and others by examining an ethics of reproductive choice produced in genetic counselling about prenatal diagnosis.
Examples of ethical questions traditionally raised by the disciplines of philosophy and bioethics have been moral ones about abstract principles based on essentialist notions of truth, such as beneficence (who benefits and how?), maleficence (who is harmed and how?), justice (how to balance benefits and burdens?), and autonomy (how is a person’s capacity for self- determination affected?). Within the discipline of philosophy Diprose (1991; Chapter one: normalising bodies and technologies page 8
1998) has developed an alternative feminist bioethics that is not based on such traditional universal principles or moral judgments. Instead, her ethics includes difference, such as for sexed and maternal bodies; the person is constituted materially and socially through their bodily experience and representation. In particular, she has examined genetics as a technology of power because, ‘as a branch of science, genetics promises absolute knowledge or the Truth of Being’ (Diprose 1991: 71:). Thus, her philosophical analysis examines epistemological and ontological questions with reference to social
(power) relations. Others outside the traditional disciplinary domain of bioethics have expressed their concerns about the ethics of medicine and science. In this study, I use sociohistorical methods and concepts, developed by sociologists following symbolic interactionist theory and by Foucault, to examine ethics in terms of social relations. Casper (1998) is a sociologist who has used symbolic interactionist theory and method to examine an ethics of fetal surgery by studying routine work practices and ‘the social processes and judgments underlying what comes to count as an acceptable practice’ (Casper
1998a: 138). I draw on analytical tools provided by social worlds/arenas theory within symbolic interactionism to examine truth claims made in the daily practices of genetic counselling about prenatal diagnosis. I also draw on analytical tools developed by Foucault (1987: 25-26) to describe the ways such truth claims offer individuals opportunities to form themselves as ethical subjects of moral codes. I provide more than an historian’s analysis of literature and ideas. I also draw on a rich source of empirical data at particular locations and times where ‘facts’ were negotiated (for example, between health professional and client in the genetic counselling clinic, and Chapter one: normalising bodies and technologies page 9 amongst professionals at conferences and workshops). I use a qualitative analysis of the empirical fieldwork together with socio-historical analyses of the literature, structured by three major theoretical tools described below.
1.2 Theoretical tools
In this section I describe, firstly, how others have used a range of theoretical perspectives and life experiences to comment on prenatal diagnosis. I then describe two major theoretical tools that I have used for this study. I use social worlds theory to describe interactions with and between assemblages of scientific knowledge claims, technologies and bodies, and Foucauldian theories of knowledge and power in the government of bodies.
1.2.1 Debates in current understandings of prenatal diagnosis
Ethical questions about technological choice and prenatal diagnosis have attracted, and continue to attract, a diversity of opinion, theory and activity.
Participants in debates have included health professionals who work in the prenatal diagnosis social world. Primarily, they include medical geneticists, genetic counsellors, proceduralists9 and other obstetricians or fetal health specialists,10 as well as other doctors (Faden 1993) and scientists (ASHG n.d.). The people who use the services are conspicuous by their absence as authors in the medical literature, which comprises research studies of women as objects of study, with a few exceptions (Guthrie 1979; O’Reilly 1995).
Other participants in debates have included historians, sociologists,
9 A proceduralist is doctor (usually an obstetrician or fetal health specialist) who performs prenatal diagnosis procedures. 10 For example, see Benkendorf, Callanan, Grobstein, Schmerler, and FitzGerald (1992), Garver and LeChien (1993), Lippman (1991), Miller, Motulsky, and Siminivitch (1980), NSGC 1992, and Wake (1994). Chapter one: normalising bodies and technologies page 10 anthropologists, ethicists , government policy advisers, religious groups, feminists, disability movement activists, and anti-abortion activists.11
Individuals can belong to more than one of these groups.
Recently, people from many of these and other groups in Australia participated in a symposium on ‘genetic testing, ethics and public health’
(O'Sullivan, Sharman, and Short 1999: xvii). This was a significant opportunity for many voices to express their ethical concerns, which the editors pursued only briefly in the title of the published volume and in their brief introductory comments that raised the tantalising question: ‘what about
“normality”?’ (O’Sullivan et al. 1999: xi). Health professionals working in medical genetics have had a long history of interest in the ethics of their practices, and in debates both inside and outside their profession. For example Abby Lippman, a feminist and professor of epidemiology and biostatistics, led a Canadian evaluation of the CVS (chorion villus sampling) procedure.12 She has published in a wide range of medical and social journals, including a feminist collection on reproduction.13 An example from another professional discipline is the US feminist anthropologist, Rayna
Rapp, who has published extensively in medical journals —as a single author and jointly with genetic counsellors whom she studied extensively—and in other disciplinary publications that include academic and popular feminist
11 For example, see Cowan (1994), Kevles (1985), Marks (1993a), Paul (1992), Rothman (1984; 1988a; 1988b; 1993a; 1993b), Rapp (1984a; 1984b; 1987; 1993a; 1998), Browner, Preloran, and Cox (1999), Wertz (2000), Wertz and Fletcher (1989a; 1989b; 1993a; 1993b; 1998), Group of Advisors on the Ethical Implication of Biotechnology (1996), President’s Commission (1983), Hecht (1981), Brookes (1995), Farrant (1985), Hubbard (1984a; 1984b; 1986), Asch (1999), Finger (1984), Gillam (1999), Newell (1994; 1999), Parens and Asch (1999), and White (1994). 12 See Chapter 4 for a description of CVS. 13 For example, see Lippman (1989; 1991; 1992a; 1992b; 1993; 1994) and Lippman, Tomkins, Shime, and Hamerton (1992). Chapter one: normalising bodies and technologies page 11 texts, anthropological journals and books, and other academic texts.14
The fear of prenatal diagnosis leading to eugenic population regulation has been a dominant concern, and is discussed further in Chapter 3. One example of this fear of prenatal diagnosis as an unethical ‘eugenic’ tool is the debate about its use for sex selection. The controversy appears to have been initiated publicly in print when, in 1980, a bioethicist working at the NIH
(National Institutes of Health) in the US used arguments favouring a woman’s autonomy to support its practice (Fletcher 1980: 16; see also Burke
1992: 1264). By the end of the 1980s he had reversed his opinion, following a controversy during that decade. He now identified as unethical the commitment of health professionals doing genetic counselling to a non- directive model of practice (Wertz and Fletcher 1989b; 1993a; 1998). In the early 1980s, feminists began to produce a strong critique of ‘new reproductive technologies’ (NRTs), which focussed more on in vitro fertilisation (IVF), donor insemination and genetic manipulation of reproductive tissues. Prenatal diagnosis and genetic counselling became part of their concerns, in terms of sex selection and women’s autonomy in reproductive ‘choice’. An early example is the FINRRAGE conference held in
Sweden in July 1985 organized by a committee of women from Europe, the
US and Australia and with about seventy participants from twenty different countries, including Bangladesh, Brazil, India, Israel and Japan (FINRRAGE
1985). A report on the conference summarised their views in terms of
‘women’s rights to refuse these technologies’ that ‘are a powerful means of
14 For example, see Marfatia, Punales-Morejon, and Rapp (1990), and Rapp (1984a; 1984b; 1987; 1988a; 1988b; 1993a; 1993b) Chapter one: normalising bodies and technologies page 12 social control emerging in a context of the New Right’s search for biological and genetics answers to social, political and economic issues’ (Brodribb
1985). The conference resolved to ‘oppose coercive prenatal diagnosis’ and to
‘oppose eugenic population policies, in particular the fabrication of “perfect babies,”’ where eugenics was defined in terms of the ‘racist and fascist division of women into “valuable” women in the industrial world, who should have children, and “inferior” women in exploited countries, who are forbidden to have children’ (Brodribb 1985).15
The US sociologist, Barbara Katz Rothman, who contributed to a collection of feminist critiques of new reproductive technologies edited by another participant in the FINRRAGE conference (Rothman 1984), published her well received study on amniocentesis soon after in 1986
(Rothman 1988b).16 She has published extensively on this topic in the popular and academic press, to audiences both within and outside medicine
(Rothman 1984; 1988a; 1989; 1993a; 1993b). Rothman concluded that, although new technologies such as CVS bring with them both old and new problems, it was more important to re-examine what were identified as problems in order to look for their solution. According to Rothman (1988b:
217-243), prenatal diagnosis has problematised both genetic identity and an ethics of individual reproductive choice. Firstly, if the body to be governed by
15 Some of the conference organisers have continued their activism, and examples of their later publications include Corea (1986), Raymond (1993), and Rowland (1992). 16 Rothman’s research used large-scale interviews of both professionals and women involved in the genetic counselling services. She drew, firstly, on interviews with women who were genetic counsellors (25). Then she also did interviews by mail (using a questionnaire) of two groups of women from across the US —recruited through two women’s magazines—who were mainly over the age of 35 years and had had amniocentesis (more than 60) or refused amniocentesis (60). And a fourth set of data was collected from women (14) accessed through a genetic counsellor and who had had abortions after an amniocentesis (Rothman 1988b: 15-20). Chapter one: normalising bodies and technologies page 13 an ethics of reproductive choice is the couple, rather than only the fetal or maternal body, then social relations that govern particular concepts of motherhood close off choices such as donor insemination and IVF. Secondly, an ethics of abortion based on the notion of autonomous choice17 has allowed second wave feminists to challenge a biologically determined role of motherhood. A sense of choice over whether or not to become a mother has led women to an ethical problem of choice over the kind of child they will mother (Rothman 1988b: 217-243). Rothman’s main interest in studying pregnant women who use prenatal diagnosis services led her to treat her observations of genetic counselling sessions as a ‘background’ and
‘introduction,’ and to share the view of genetic counsellors that genetic counselling for advanced maternal age is ‘boring’ (Rothman 1988b: 15-16). In contrast, I seek to problematise the routine content and practices of genetic counselling about prenatal diagnosis, in order to describe the social relations built into the ‘facts’ about technoscience and bodies.
Rothman’s feminist approach has been expanded by Rapp—another
New York-based feminist academic but with explicitly Marxist roots (Rapp
1977). A long-term political activist, including pro-choice support of abortion,
Rapp entered her pioneering work on prenatal diagnosis with her personal story of the choices she and her partner faced in aborting a fetus identified with Down syndrome (Rapp 1984a; 1984b). She then did extensive studies on sociocultural issues in prenatal diagnosis, while supporting improved access
17 The feminist slogan ‘abortion is a woman’s right to choose’ (Albury 1999) was a way for feminists to establish and put into practice their relation to an ethics of reproductive choice. Chapter one: normalising bodies and technologies page 14 to it. Rapp (1984b: 101) initially adopted a realist position about scientific education of the public, that advocated ‘obtaining, scrutinizing, and using the most accurate scientific information we can find. We desperately need scientific literacy’. Later, she moved to a more relativist position that emphasised cross-cultural barriers to communication in genetic counselling, while challenging medico-scientific constructions of bodily abnormalities
(Rapp 1988a) and the model of non-directive genetic counselling (Rapp
1993a: 193). She has argued for a primary role for consumers as ‘moral pioneers’18 in ethical ‘contests for meaning and rationality’ (Rapp 1998: 48).
Rapp has described instances of cross-cultural differences in the construction of Down syndrome (eg it has no name in the Creole language and Haitians do not even recognise it as an abnormality). Including medico-science in notions of language and culture, she has concluded:
If, and only if, the discourse on disability and reproductive rights is shifted out of the medical context and negotiated as part of popular culture will it become possible to speak in other languages (Rapp 1988a: 155).
Rapp has succeeded in working with both the professionals who provide prenatal diagnosis services and women who use them. She has also acted as a consumer advocate by pushing for change in the training of genetic counsellors so that they can more readily recognise and break down cross- cultural barriers. Her acceptance within the professional field has introduced complexity and cross-disciplinary understandings. This is reflected in her search for solutions outside ‘the medical context’ that use a ‘more complex,
18 Rapp described women who consider using prenatal diagnosis technologies as ‘moral pioneers’ early in her research into this topic (Rapp 1987). Chapter one: normalising bodies and technologies page 15 less medical model’ to solve the problems she identified with cultural difference, language and bodies (Rapp 1988a: 156). Most recently, she has constructed the women who consider using this technoscience as ‘ethical gatekeepers’, with differences in their politics (and ethics) of technological choice reflecting differences in religion, kinship, reproductive history, class, and gender relations (Rapp 1998: 67-68). In contrast, I seek to examine further the ‘ethical gatekeeper’ role of the health professional in constructing an ethics for women and their partners through technoscientific meanings of prenatal diagnosis.
A third US researcher whose theoretical studies are relevant to my study is the sociologist Regina Kenen. Her sociological research has pioneered an analysis of the professional politics of medical genetics, including genetic screening and genetic counselling—both in the US and Australia (Kenen
1979; 1984; 1986; 1988; 1997; Kenen and Smith 1995). Her theoretical framework has been situated within the sociology of professions, drawing on a number of theories. These include the early conflict theory of Freidson, who examined the role of knowledge, as well as professions and the state, in professional power relations (Freidson 1970; 1973; 1994). She also has drawn on Strauss’ early symbolic interactionist theory on professional trajectories
(Bucher and Strauss 1961), 19 and on early and more recent structuralist models of political relations between professions, medicine and the state
19 A trajectory is commonly defined in terms of the motion of an object (eg, ‘the path described by a body moving under the action of given forces’) (Delbridge et al. 1998). A recent definition of its particular meaning for Strauss is that it has been a key concept in his symbolic interactionist theory for describing both the path of change over time and the interactions between agents of change that comprise the ‘social, economic, political, cultural and other’ forces that shape that path (Strauss 1993: 53-54). See also Section 1.2.2. Chapter one: normalising bodies and technologies page 16
(Jamous and Peloille 1970; Johnson (1986); Ritzer 1977; Torstendahl and
Burrage 1990).
Kenen has provided valuable analyses of the formation of the genetic counsellor profession. She has described the role of medical and public acceptance of changes in the division of labour in health care, and in particular the new profession of genetic counsellor, which has, however, maintained medical dominance (Kenen 1984: 541). Of particular relevance to my study is her later comparative analysis of genetic counselling in Australia and the US, in terms of a professional trajectory that follows the phases of emergence, consolidation and institutionalisation. Her analysis of the future for genetic counselling in Australia from the mid-1980s identified key issues such as the inability of a small population to support discrete training programs in tertiary education institutions for such a small number of professionals. As well, she identified the need for genetic counsellors to move from an individualised to a wider professionally based collaboration in order to follow the US multi-disciplinary team model (Kenen 1986). More recently, in a critique of the ‘biomedical model’ of genetic counselling, Kenen has investigated new methods discourses that do not rely on claims about non- directiveness, such as the ‘mutual participation’ and ‘life history narrative’ models. The goal of the former is to establish a role for the client in
‘partnership’ with the health expert, and for the latter it is to focus on the client’s beliefs by recognising the dual roles played by both health professional and client (Kenen and Smith 1995: 118-120).
Kenen (1997) used a sociology of professions approach to examine the role of internal and external factors in shaping the future for genetic Chapter one: normalising bodies and technologies page 17 counsellors. She described how their identity as a profession has become well established and also how a range of factors has shaped its future expansion.
She has identified factors external to the profession, such as technological change, social context (eg, attitudes towards abortion and eugenics), government’s economic rationalisations, corporate goals, and exclusionary practices of competing professions). Internal factors include exclusionary practices by members of the profession to control entry to itself, the structure and trajectory of training programs for both its own members and for other professions whose duties include genetic counselling, and the division of labour that accompanies specialisation. Kenen concluded that genetic counsellors in the US could best address the complex social and ethical concerns associated with their work practices by building a strong professional identity and organization. This would need to be able to challenge competing interests within the complex managed care health system (Kenen 1997).
Gieryn (1995; 1999) has provided a sociological analysis of professional power relations with respect to scientific knowledge claims that I find useful for analysing prenatal diagnosis. Drawing on the sociology of professions, social worlds theory, cultural theory, and feminist theory of science, he described science in terms of four major strategies for building and maintaining professional boundaries. Firstly, he defines ‘monopolisation’ as the use of professional boundaries to authorise and police legitimate knowledge, by creating spaces containing legitimate knowledge and limiting access to the few authorised to occupy that space to challenge facts.
‘Expansion’ is the invasion of epistemological and, thus, others’ professional Chapter one: normalising bodies and technologies page 18 boundaries using strategies that objectify and materialise knowledge (eg, rewrite history in terms of progress due to the invading profession’s knowledge, attributing particular knowledge to others with already established authority). ‘Expulsion’ excludes deviants from within a particular profession’s boundaries in order to maintain an appearance of homogeneous belief and practice, and generate truth. Finally, ‘protection’ keeps politics—government—at a distance sufficiently to show the political utility of science while retaining professional autonomy; at the same time, policy makers can use the authority of science to legitimate politics but retain their authority over the non-technical (Gieryn 1995).20 I adopt Gieryn’s fourfold analytic framework in later discussions about the professionalisation of genetic counselling and the model of non-directive genetic counselling
(Chapter 3), and about interactions between medicine and government in governing access to prenatal diagnosis (Chapter 5).
Most of the researchers on genetic counselling and prenatal diagnosis named above participated in a workshop on women and the Human Genome
Project held in 1991 in the US. The statement that participants produced
(Rothenberg and Thomson 1994: 296-299) called for further evaluations of genetic testing services that should be ‘client centred,’ in order to better represent the expressed needs and interests of the women who use such
20 At about the same time as Gieryn was formulating his analysis—an early example is Gieryn (1983)—Willis (1983) published a neo-Marxist analysis of medicine’s dominance in the division of labour in Australian health care. In his socio-historical analysis, Willis describes professional strategies of power similarly to Gieryn, in terms of horizontal and longitudinal specialisation that produce ‘subordination,’ ‘limitation,’ and ‘exclusion’ of different occupational groups (Willis 1983: 32). In formulating his analysis, he drew on symbolic interactionist theory to identify horizontal specialisation as segmentation (Bucher and Strauss 1961), providing an historical understanding for my preference to use Gieryn’s (and some of Willis’) analysis of professional power relations with social worlds theory. Chapter one: normalising bodies and technologies page 19 services. They recommended that the services be evaluated in terms of maximising individual choice. They stipulated that the aim of such services should be ‘self determination’ in order to maximise ‘individual control,’ that the social good be secondary to ‘the personal needs of women and their families,’ and that services be ‘meticulously voluntary.’ They called for the information provided to be ‘comprehensive, accurate, and provided in an unbiased manner, so that a true picture of what life with such a disability may be like is presented,’ and suggested that including people with disabilities in further research could help prevent bias (Rothenberg and Thomson 1994:
296-299). In other words, they prioritised an ethics based on individual, rather than professional or other competing, social interests. In doing so, they failed to question the role of social relations that are hidden in their rhetoric of individual choice. Nor did they question the construction of a boundary around voluntary action, divorcing it from social relations. Similarly, they failed to question the social relations in medico-scientific knowledge.
In this study I examine the construction of an ethics based on such binaries, which separate the individual and the social, coercive and voluntary action, and good and bad science. I do this by using new empirical work to develop a sociohistorical analysis of ethics in terms of social relations embedded in the knowledge claims and practices of prenatal diagnosis technoscience. My analysis draws on conflict models of social relations, as have those of the sociologists and anthropologists described above. For example, I use Gieryn’s concept of professional power relations in terms of four major strategies for containing knowledge claims within particular professional boundaries. However, more broadly, I draw on symbolic Chapter one: normalising bodies and technologies page 20 interactionism to examine social relations between bodies and technoscience at both the micro and macro levels, and on Foucauldian theory about an ethics of such social relations.
1.2.2 Social worlds/arenas, boundary objects, and standardised packages
My theoretical framework relies, in part, on the Chicago symbolic interactionist school that provides a constructivist model in the sociology of scientific knowledge and technology, and relevant examples include Casper
(1998a), Clarke (1990a), Clarke and Montini (1993), Fujimura (1992), Star
(1983), and Strauss (1991). Historically, symbolic interactionism has been usually linked with Weberian and ‘micro’ phenomenological and ethnomethodological models, which examine everyday life and the ways that people construct order in it. It has been contrasted with ‘macro’ structural perspectives, such as neo-Marxist and other conflict-based models or
Giddens’ structuration theory of mutual dependency between human action and social structure (Haralambos and Holborn 1990: 767). However, recent analyses of the arena of reproductive science using symbolic interactionist theory have bridged the boundary of the micro/macro dichotomy by including both local and more complex systems of broader social relations
(Casper 1998a; Clarke 1998). Clarke (1990a; 1991a; 1998) has effectively used the concepts of social worlds and arenas21 to analyse reproductive science and technology. Rather than ethnomethodological research methods, she has used historical research methods of interviews and archival and other textual material in what she describes as ‘historical sociological research’ (Clarke Chapter one: normalising bodies and technologies page 21
1998: xv). She develops both micro and macro perspectives to describe the historical development of the discipline of reproductive science in the US to the 1960s, through the situated knowledges22 of a number of intersecting social worlds (the biological, medical and agricultural sciences, philanthropic organizations, and birth control advocates) (Clarke 1998).
Similarly, she has been able to describe controversies over the development of the abortion technology RU486 (Clarke and Montini 1993).
‘Social world,’ as originally defined by Strauss, describes a dynamic collectivity of the following elements: activities, sites, technologies, and organizations (Strauss 1978: 122). A social world comprises ‘groups with shared commitments to certain activities, sharing resources of many kinds to achieve their goals, and building shared ideologies about how to go about their business’ (Clarke 1991b: 131). An ‘arena’ is a site for political activity involving representatives of constituent social worlds. (Strauss 1978: 124)
Social worlds can be ‘segmented’ into ‘subworlds that may intersect with each other, as well as themselves (either separate or in intersecting relations) being constituents of larger arenas.23 Social relations can be analysed by identifying intersections, and interactions between elements of the social worlds and political arenas that are formed (Strauss 1978: 123-124).
21 ‘Arena’ and ‘social world’ are defined in the next paragraph. 22 ‘Situated knowledges’ is a term coined by Haraway (1991) to retain a concept of scientific objectivity for feminist critiques of science. Her aim was to move away from realist/relativist polarities. To do this, she used the term ‘embodied objectivity’ to legitimate particular visions of heterogeneous observers in contesting claims about reality, and she also attributed agency to the objects of knowledge themselves. 23 According to Clarke (1991b: 133) this hierarchical representation is fluid and pragmatically ordered according to the actors’ concerns and actions. However, the researcher is an additional actor who imposes boundaries in their very determination of a particular hierarchy of arenas, social worlds, and sub-worlds. A different fluidity of boundaries can occur from differences in the subjective determination of boundaries by any one researcher. Chapter one: normalising bodies and technologies page 22
I find concepts from social worlds/arenas theory useful for deconstructing an ethics of reproductive choice enacted in the field and produced in the literature. Following Clarke and Fujimura’s understanding of scientific work (Clarke and Fujimura 1992: 5), I examine the same classes of elements but for work done in the social world of prenatal diagnosis. The following list of classes of elements show a range of examples specific to my study:
• Workplaces—clinics, laboratories, conferences, and expert advisory
committees to government;
• Health professionals—medical geneticists, genetic counsellors, specialists
in ultrasound and prenatal diagnosis procedures, cytogenetics specialists,
ultrasound technicians, laboratory staff who test biological samples,
clerical and other office staff;
• Audiences and consumers—individual women and others significant to
their decision-making process who use any parts of the prenatal diagnosis
package (see Figure 1); genetic support groups; supporters and critics of
prenatal diagnosis;
• Work organization—local, administrative and professional;
• Sponsorship—corporate sponsors of new screening and diagnostic
technologies and techniques, as well as of conferences and other
meetings;
• Regulatory groups—elected governments and their bureaucracies, and
professional organizations;
• Theories, models and other entities—both tacit and explicit knowledge Chapter one: normalising bodies and technologies page 23
claims about bodies and technologies;
• Medical materials, instruments, technologies, skills and techniques—
‘education’ literature used in genetic counselling clinics, screening and
diagnostic technologies and techniques (amniocentesis, CVS, maternal
serum testing, ultrasound); and
• Laboratory services— cytogenetic, biochemical and molecular genetic.
I examine the work done in the prenatal diagnosis social world as a process of co-construction of bodies, technologies, and work (Clarke and Fujimura
1992: 8-17). The process of co-construction can include social worlds themselves, with the entry of new technologies and new actors, scientific knowledge claims and work practices associated with them (eg, the triple screen—a new screening tool for regulating access to prenatal diagnosis—described in detail in Chapters 4 and 5).
The term ‘boundary object’, as developed within social worlds/arenas theory (Star and Griesemer 1989), is relevant to my study. A boundary object has been defined as:
those scientific objects which both inhabit several intersecting worlds … and satisfy the informational requirements of each of them. Boundary objects are objects which are both plastic enough to adapt to local needs and constraints of the several parties employing them, yet robust enough to maintain a common identity across sites. They are weakly structured in common use, and become strongly structured in individual-site use. These objects may be abstract or concrete. They have different meanings in different social worlds but their structure is common enough to more than one world to make them recognizable, a means of translation (Star and Griesemer 1989: 393).
Boundary objects can be assembled with other knowledge claims, technologies, and objects into a more stable ‘standardised package’ that: Chapter one: normalising bodies and technologies page 24
(unlike a boundary object) is used by researchers to define a conceptual and technical work space which is less abstract, less ill-structured, less ambiguous, and less amorphous. It is a gray box which combines several boundary objects ... with standardized methods in ways which further restrict and define each. Such codefinition and corestriction narrows the range of possible actions and practices but does not entirely define them. Thus, using a package allows for a greater degree of fact stabilization than using boundary objects. (But, like boundary objects) they facilitate interactions and cooperative work between social worlds and increase their opportunities for being transferred into, and enrolling members of, other worlds (Fujimura 1992: 169).
The early development of prenatal diagnosis produced a standardised package that became a norm for measuring newer technologies that, if successful, became incorporated to produce a new standardised package.
Figure 2 shows the standardised package established in the 1970s with the introduction of amniocentesis. It comprised the screening test of ‘advanced maternal age’ to regulate access by pregnant women to genetic counselling, with the aim that they choose to use, or not use, amniocentesis. If an abnormality was detected in the fetus, genetic counselling was again offered for her to use, or not use, abortion. At the time I carried out my fieldwork, the standardised package had been renegotiated to include the diagnostic procedure of CVS (see Figure 1). Figure 1 also shows new technologies and techniques—maternal serum screening and ultrasound tests for Down syndrome, and genetic support groups following abortion of a fetus identified as genetically abnormal. These had not become stabilised elements in the prenatal diagnosis standardised package when I did my fieldwork, and in this study I describe the negotiations that were under way to include them. These new technologies also came with other contested claims about the need for Chapter one:normalisingbodiesandtechnologies page
Pregnancy Continues
Genetic Counselling
Genetic Test +ve
Maternal Genetic Amniocentesis Age Counselling @ 15-18 wks Karyotype Abortion Exit Screen
-ve
Pregnancy Continues Pregnancy Continues
Figure 2: Standardised Prenatal Diagnosis Package in the 1970s 25 Chapter one: normalising bodies and technologies page 26 additional genetic counselling.
I define genetic counselling, a technique for disseminating genetic representations of the body as medico-scientific 'fact,' as a boundary object in terms of the claims about what it is in practice as an ideal type of human interaction. Genetic counselling conforms to the definition of a boundary object in that it can be flexibly interpreted by health professionals and their clients. In Chapter 3 I describe the invention and trajectory of genetic counselling as a professional activity. It inhabits various social worlds within and beyond the arena of medical genetics whose boundaries are defined, for example, by a range of actors (eg, medical geneticists, obstetricians, GPs, non-medically qualified genetic counsellors, nurses, and social workers) and workplaces (eg, genetics clinics, prenatal and other medical clinics, and blood collection sites). The combined plasticity and strength of genetic counselling makes it a key component of the standardised package of prenatal diagnosis.
The interpretation and practice of genetic counselling differs by the type of professional who practices it, and these differences are described for the actors I observed in for this study. In addition, historical changes are described, as new professions have entered the medical genetics arena and, more specifically, the social world of prenatal diagnosis.
A dominant model of ‘non-directive’ genetic counselling serves to ‘black Chapter one: normalising bodies and technologies page 27 box’24 its constituent medico-scientific knowledge claims from contamination by social values, which are seen to reside solely in another constituent—the communication process. In Chapter 2 I describe how genetic counselling effectively performs both fact stabilisation and cooperative work across and within social worlds.
‘Trajectory’ is another term specific to symbolic interactionist theory that is relevant to my study, and it describes the interactions among agents of change as well as the path of change over time that they shape. (Strauss 1993:
53-54). For example, in Chapter 2 I describe the trajectory of genetic counselling work in terms of a funnelling process that materialises both a genetically determined maternal body and the norms required for comparative purposes in the decision-making process. Another trajectory is that of the profession of genetic counsellor, described in Chapter 3 in terms of social relations between professions and their practices in genetic counselling. A third trajectory is the articulation work done in constructing hybrids of technologies, techniques, and bodies as well as in constructing
24 I use the term ‘black box’ to describe established facts, believed to capture the ‘truth’ about a phenomenon that is stripped of contaminating social relations. The first use of the term ‘black box’ has been attributed to Wiener, who used it to describe a cybernetic apparatus whose means of internal operation is unknown (Jordan and Lynch 1992: 101). In the sociology of science the first use of the term ‘black box’ has been attributed by Pinch (1992: 488) to the UK sociologist Whitley in 1972. He used it to criticise the practices of Mertonian sociologists who left unexamined the internal processes in the production of scientific knowledge. The term became widely used in science and technology studies from the late 1970s, when it was defined as an activity that was to ‘render items of knowledge distinct from the circumstances of their creation’ (Latour and Woolgar 1979: 252-260). Later, Latour clarified his use of the term by defining it as: the assembly of disorderly and unreliable allies (that) is thus slowly turned into something that closely resembles an organised whole. … Until it can be made into an automaton, the elements that the fact-builder wants to spread in time and space is not a black box. It does not act as one. It can be disassociated, dismantled, renegotiated, reappropriated. … So it is not simply a question of the number of allies. Numbers unified whole. However, with automatism, a large number of elements is made to act as one … when many elements are made to act as one, this is what I will now call a black box’ (Latour 1987: 131). Chapter one: normalising bodies and technologies page 28 hybrid subjects (Casper 1998a: 104). I describe this in Chapter 4, which discusses how assemblages25 of technologies and bodies are disciplined through claims about efficacy and safety. A fourth trajectory is found in
Chapter 5, which traces the developing careers of new screening technologies that test maternal blood—the most ‘successful’ having been the triple screen.
Close to the end of his life, Strauss attempted to insert the body back into his sociological theory (Corbin 1991: 33). Casper (1998a; 1998b) has done so, using symbolic interactionist theory and method to describe the construction of the fetus as patient and the new medical discipline of fetal surgery. I wish to demonstrate how Foucauldian theory can be a useful tool for doing so, when used with social worlds/arenas theory.26 Foucauldian theory can enhance the model of a standardised package of prenatal diagnosis by constructing a political anatomy of social relations that govern an ethics of reproductive choice. It is described in detail in the next sub- section.
1.2.3 Ethics and the government of the body
Foucault was a student and friend of Canguilhem (cited at the beginning
25 The term ‘assemblage,’ following that used by Deleuze and Guattari (1987: 90), refers to the fluid and heterogeneous components of a possible package for carrying out an individual act of prenatal diagnosis. Novas and Rose (2000: 492) have applied the concept to what I also term the standardised package of prenatal diagnosis. Fujimura’s standardised packages also are similar to Haraway’s (1992: 313) actants, or collectivities of human and non-human actors, which are articulated through situated knowledge claims. 26 Castellani (1999) is the only example I have been able to find of an attempt to fuse symbolic interactionist and Foucauldian theory. Like myself, Castellani sought to strengthen his analysis of social practices with a Foucauldian interpretation of power relations that organise those practices (Castellani 1999: 247-249). He thus makes a claim for a ‘new theory of interaction’ that incorporates some Foucauldian concepts within symbolic interactionism (Castellani 1999: 263-270) I wish to make no such grand claims. Probably because I was not primarily trained in symbolic interactionist theory and practice, I do not wish to subsume Foucauldian concepts within symbolic interactionism. But neither do I want to do the reverse. Rather, my aim is to take a pragmatic approach of exploring how both theories can be useful for describing the construction of an ethics of reproductive choice using prenatal diagnosis. Chapter one: normalising bodies and technologies page 29 of this chapter), and has been positioned theoretically as a successor to the philosophical histories of Canguilhem’s analysis of the life sciences and of his predecessor, Bachelard’s analysis of the ‘hard’ sciences such as physics and chemistry (Rabinow 1994: 13, 19; 2000:xi). According to Gutting (1989: 11),
Foucault was interested in a history of science as developed by Canguilhem at least partly because it examined the contingency of claims about truth and rationality. It was from this that Foucault developed his analyses of the social relations of knowledge and power, published from the early 1960s in his histories of madness, medicine, disciplinary technologies such as prison, and sexuality (Foucault 1991; 1973; 1977; 1984a; 1986; 1987). He described his changing methodologies from ‘archaeology’ to ‘genealogy’ and beyond in terms of three inter-related bodies of work that examined knowledge in a new way, its ‘conditions’ and the ‘knowing subject’ (Rabinow 2000: xi).
Using an interpretation of the Foucauldian concept of ‘biopower’
(Foucault 1984a: 139-145; Turner 1984: 85-113; 1992: 58-59), I have structured my analysis of power that is articulated through the prenatal diagnosis package in terms of the following four categories of social relations that govern the body:
• regulation of populations in time through a risk discourse about
reproduction and the genetic maternal body;
• discipline of intending parents as rational decision-making individuals;
• discipline of the assembly of individuals with the technologies and
techniques of prenatal diagnosis through claims about their safety and
efficacy; and
• regulation of populations in space with respect to gaining access to Chapter one: normalising bodies and technologies page 30
prenatal diagnosis services.27
To elaborate on ethics and power in the social world of prenatal diagnosis, I use Foucauldian concepts of ethics, ‘technologies of the self’ and
‘governmentality’ that examine how human existence is problematised and ethical solutions offered. I examine an ethics of reproductive choice using another four-fold schema adapted from Foucauldian theory to describe multiple and inter-dependent ways of acting to govern the self as an ethical subject. Firstly, ethical work requires identifying a particular part of the self that is to be governed, whether it is an action, emotion, or part of the material body.28 Secondly, it requires a way for a person to relate to her- or himself that sets up moral obligations as reasons for governing the self.29
Thirdly, ethical work requires techniques, technologies and other forms for doing the work of governing the self—that is, the forms necessary to change
27 My four-fold analytical framework adapted from Foucault’s analysis of socio-historical relations echoes Haraway’s repositioning of political perspectives of nature by adapting Jameson’s semiotic square for exploring relationships between elements of a linguistic system (Haraway 1992: 305). Similarities between her model and Turner’s representation of Foucault’s theory of biopower (Turner 1992: 59) (published the same year) drew me into an extended and close reading of Foucault. As described by Hekman (1996: 4), Foucault helped to create ‘a new epistemological space’ which has supported some feminists in formulating ‘a new politics for feminism without a stable subject or universal normative goals’. Foucauldian analytical methods offered possibilities for developing and expressing my own feminist politics in the analytical framework for this study that is introduced here. 28 Foucault called this substance éthique, which has been translated as ‘the ethical substance’ (Foucault 1987: 91; 2000b: 263). He described it as answering the question “Which is the aspect or the part of myself or my behavior which is concerned with moral conduct?” (Foucault 2000b: 263). 29 Foucault described this second element as ‘the way in which people are invited or incited to recognize their moral obligations. Is it, for instance, divine law that has been revealed in a text? Is it natural law, a cosmological order, in each case the same for every living being? Is it a rational rule? Is it the attempt to give your existence the most beautiful form possible?” His original French texts used mode d’assujettissement, which has been translated variously as mode of ‘subjection’ (Foucault 1987: 27), ‘subjectivation’ (Rabinow 2000: xxx) and subjectification (Dean 1996: 222-225). Gordon (1980: 239) has described how Foucault’s genealogical method challenged modernism’s privileging of the subject in a constructed subject/object binary of ethics. Thus, Foucault described power relations in terms of subjectivity—the production of truth claims about the subject and how they govern the way people think about and present themselves. Chapter one: normalising bodies and technologies page 31 oneself in order to conform to a given ethical norm.30 Fourthly, it requires that one have an aim that describes the desired ethical mode of being 31
Using Foucault’s (1987) schema for an ethics of reproductive choice with respect to prenatal diagnosis, I examine, firstly, how an ethics constructs particular aspects of the maternal body to be governed, such as the fetal body
(regarded as a separate object) or the whole maternal body (materialised as a genetic body with a deteriorating (re)productive capacity due to the ageing process and/or as a rational body in danger from the individual’s inner emotions and external forces in the social body). Secondly, it offers reasons for governing oneself such as a mother’s role caring for her child’s health, a citizen’s duty to care for the health of a nation, or to fulfil God’s law (eg, by resisting testing, or abortion after a ‘positive’ test result). Thirdly, it offers technologies of the self, such as genetic counselling, as forms for doing ethical work. Finally, it offers various aims for an ethical subject, such as behaving as an autonomous rational individual or of gaining a healthy body
(and/or a healthy family and nation).
Foucault defined technologies of the self as instruments and techniques for individuals to act upon themselves, and governmentality as the socio- historical space occupied by technologies that act both on others and on the
30 Foucault third element has been translated as ‘forms of elaboration’ (Foucault 1987: 91-92) or ‘self-forming activity” (Foucault 2000b: 265). 31 Foucault used the term telos, defining it as answering the question “What is the kind of being to which we aspire when we behave in a moral way?” (Foucault 2000b: 265). Dean (1996: 225) has pointed out that Foucault’s schema echoes Aristotelian doctrine of the four Forms of Causality for understanding natural bodies, and Heidegger’s observation that the question of how to understand the nature of the human being requires also an understanding of how humans construct this as a question in the first place. Chapter one: normalising bodies and technologies page 32
self (Foucault 1988: 19).32 He formulated these concepts in response to criticisms of his earlier focus on regulatory aspects of biopower, as power relations of domination that operate on ‘docile bodies’ (Deveaux 1996: 213) external to them (Foucault 1988: 18-19). Later elaborations of his term
‘governmentality’ definepower relations more actively, in terms of both the ways that people reflect and act on their experiences, and the ways of thinking in the political arena that frame political rationalities and activities
(Rose 1996: 41-42). These terms are particularly relevant to my study, as they provide valuable tools for describing the role of genetic counselling as a technology of the self (Foucault 1988: 18)33 (both the health professional, aiming to be ‘non-directive’, and the client, aiming to act as a rational decision-making individual) within the package of prenatal diagnosis technoscience. These tools thus help to examine ethics with respect to power relations mediated through that technoscientific package.
The concept of ‘normalisation’ is central to Foucauldian theory, since his early archaeological method that he developed to identify norms constructed to render objects visible and real (Foucault 1972: 42). I use
Bordo’s clearly expressed interpretation of normalisation, as:
all those modes of acculturation which work by setting up standards or 'norms' against which individuals continually measure, judge, 'discipline' and 'correct' their behaviour and presentation of self (Bordo 1993a: 199).
32 Bordo points out that feminism independently constructed the body in ways similar to Foucault (1993b), with power relations residing in both the individual and the social body. By example, she refers to Charlotte Bunch’s version of the feminist slogan ‘the personal is the political’: ‘There is no private domain of a person’s life that is not political and there is no political issue that is not ultimately personal’ (Bunch 1968 cited in Bordo 1993b: 17). 33 Foucault described technologies of the self as a means for understanding the self, which ‘permit individuals to effect by their own means or with thehelp of others a certain number of operations on their own bodies and souls, thoughts, conduct, and way of being, so as to transform themselves in order to attain a certain state of happiness, purity, wisdom, perfection, or immortality’ (Foucault 1988: 18). Chapter one: normalising bodies and technologies page 33
I examine in the following four chapters the normalising role of the standardised package of prenatal diagnosis, in terms of constructing: genetic bodies, and a reproductive origins story about fetal chromosomal abnormalities and an ageing maternal body; genetically responsible individuals making autonomous reproductive choices, using genetic counselling that is the product of complex professional social relations; assemblages of individual bodies with technologies and techniques that work and are safe; and populations, whose access to prenatal diagnosis services is be regulated so that they can conform to an acceptable measure of health.
Foucault described ethical activities in terms of governing the self through practices of the self (self-transformation) and practices of freedom
(the transformation of power relations in practices of the self) (Foucault
2000a: 281-289). Genetic counselling can be considered a technology, or practice, of the self that pregnant women may (or may not) use to ‘transform’ themselves (the ‘self’ being understood to include the fetus), by defining themselves in terms of a genetic body according to norms about age and reproductive health and choice. Genetic counselling can also be considered a practice of freedom, in that it offers possibilities for pregnant women to act on themselves in ways that can transform power relations. A woman’s reproductive choices have the potential to transform power relations with other individuals, within her family, and within society (eg, by either having, or not having, prenatal testing; and by either aborting, or giving birth to, a fetus defined as chromosomally abnormal). The risk discourse used in genetic counselling can be interpreted as a technology of government embedded within the standardised package of prenatal diagnosis. A Chapter one: normalising bodies and technologies page 34
Foucauldian analysis of risk management in the arena of economics and social world of prudentialism,34 has described how neo-liberalism has supported a positive concept of risk as always present but ‘a source or condition of opportunity.’ Rationality has been defined in terms of an ethical responsibility to care for one’s health (a ‘duty to be well’) by using appropriate services and expertise to avoid risk (O'Malley 1996: 199-204).
Thus, for genetic counselling, it becomes the duty of an enterprising individual woman to care for her own and her future children’s health by using the standardised package of prenatal diagnosis.
Whilst Foucault’s later concepts, such as governmentality and ethics described above, attempted to move his focus from discourse to action (or the practices within his definition of discourse)35, his methods drew on actions less ‘visible’ in historical documents. This is precisely where sociological methods such as those of social worlds/arenas theory have proved valuable for my study. Fieldwork in the clinics and other sites of negotiation of facts provided a rich source of data on collectivities of actions undertaken in the translation and negotiation of medico-scientific knowledge claims for public understanding. As a result, the genetic counselling clinic—an interface of medical and public understandings of the maternal body and reproduction—became a primary focus of my study.
34 According to O’Malley (1996: 196-197), neo-liberalism ‘implies that [individuals] should be prudent instead of relying on socialized securities.’ He defines this concept—‘prudentialism’—as ‘a technology of governance that removes the key conception of regulating individuals by collectivist risk management (eg, by social security in a welfare state), and throws back upon the individual the responsibility for managing risk.’ Chapter one: normalising bodies and technologies page 35
1.3 Methods of investigation
Like Casper (1998a: 21; 1998b) I have used multisite ethnography to collect data from a range of sources (historical, geographical, oral, textual, clinical, institutional, and scientific), with my analysis starting from the genetic counselling clinic and focussing on the health professional’s role. Most published research has been done on the women who use prenatal diagnosis services and I had originally intended also to focus on them, using both interviews and questionnaires with women attending the genetic counselling clinic. However, I was also interested in the (mainly) women who provided genetic counselling services. Unfortunately, investigating both groups of actors was logistically impossible because of limited resources (both in accessing suitable spaces for interviewing the clients of genetic counsellors and in my available time). I therefore decided to concentrate on the role of the health professionals in the construction of an ethics of reproductive choices. By focussing on the genetic counselling clinic, I aimed to maximise the opportunity to include the perspectives of the women and others significant in their decision-making about prenatal diagnosis who are offered these services.
Before beginning fieldwork I was required to submit copies of my research instruments for approval by my university’s ethics committee, and these are shown in Appendices 1 to 5. 36 After gaining approval, I then needed to submit further applications to two other ethics committees that governed the
35 As a reaction to linguistic theory, Foucault described his concept of discourse as an active productive process comprising practices that form objects, which he contrasted to linguistics’ reduction of language to signs (Foucault 1972: 49). Chapter one: normalising bodies and technologies page 36 two clinics in my study that were located in public hospitals. The doctor in the third privately funded clinic accepted my university’s ethics approval. My negotiations with the Institutional Ethics Committees (IECs) met with some difficulties because of their changing role in Australia at that time.
Historically, the major work for ethics committees had been to examine projects using quantitative empirical research methods, largely as medical science projects such as clinical trials for new drugs.37
Empirical data were collected over a period of about three years (from
September 1992 to September 1995) from observed genetic counselling clinics and interviews with a range of professionals in the prenatal diagnosis social world. As a participant, I also observed their many activities beyond the clinic. These included meetings of health professionals—the first was an annual meeting of the HGSA (Human Genetics Society of Australasia) and the last was a symposium on prenatal diagnosis. The medico-scientific literature was an additional rich data source for knowledge claims about relevant theory, technologies and techniques. Although some health professionals saw no reason for anonymity for themselves, I have not identified any of the clinics or actors studied.38 This complied with standard requirements of the IECs that authorised my research. However, in my later analyses I realised that it was impossible to ensure complete anonymity, as some sites and actors may be identifiable to those working in this arena. I
36 Appendices 1-5 contain copies of the letter sent to women who had made an appointment for genetic counselling inviting them to participate in this study, the consent forms and information sheet provided to all participants, and the interview schedule. 37 See Appendix 6 for a discussion about the changing role of IECs in Australia at, and since, that time. Chapter one: normalising bodies and technologies page 37 therefore would construct consent forms differently for future fieldwork. I would not, in future, include the statement (approved by all four ethics committees): ‘the results of the study will be published or disclosed to other people in a way that will not identify you’ (see Appendices 3 and 4). A possible alternative statement could be: ‘the results of the study will be published or disclosed to other people in a way that aims to not identify you.
There is still a risk that you may be identified.’
I observed, tape-recorded, transcribed and analysed fifty-one genetic counselling sessions in three different types of clinic in order to explore possible similarities and differences. Twenty-nine observed genetic counselling sessions were at a publicly funded clinic (GC7)39 in a large teaching hospital (H7), where prenatal diagnostic services were provided through the Medicare reimbursement (many women using that service were on a low income). Nine observed genetic counselling sessions were at a mixed public/private clinic (GC2) at a large specialised women’s hospital, where prenatal diagnostic services were provided to separately insured women but were mainly provided through the Medicare reimbursement. Women were referred from the separate public obstetrics clinic or from other hospitals within the catchment area for this specialist hospital. The rooms were also used for general obstetrics fee-paying patients, and their use for prenatal diagnosis genetic counselling was offered because of lack of space in the public clinic (the head of the private clinic had established publication and
38 My historical analysis drew on interviews with, and published literature by, some of the health profesionals whose identities I undertook to protect in the sociological data collection. I therefore have not identified them as participants in this study. Chapter one: normalising bodies and technologies page 38 other work-related links with one of the proceduralists).40 Thirteen observed genetic counselling sessions were at a private clinic (GC6) where all clients were charged. The first five sessions at this clinic were not tape-recorded, as they were conducted by a locum medical geneticist who agreed only to written notes being taken. These were therefore used as a preliminary guide for my future fieldwork, with only data from the following eight sessions used in my analysis. A detailed description of the organization of the three genetic counselling clinics is given here to provide preliminary contextual information on the professional division of labour, and of clinic similarities and differences, to aid understanding of discussion in later chapters. There were four major clinical genetics units unevenly distributed in the state where fieldwork was largely done for my study. Three were located in its capital city, and the fourth in a major city nearby. Two were included in my study, and neither was located in the hospitals where the observed genetic counselling clinics were held. Instead, these specialised clinics were treated as ‘satellite’ genetics clinics, in which genetics staff travelled to the hospital sites where the procedures were done. The privately funded genetic counselling clinic was different in that the medical geneticist was not attached to any of the four major clinical genetics units.
At the public clinic (GC7), three non-medically qualified professionals
39 The numbering of different field sites was historically sequential according to my encounters with them when carrying out research, and does not reflect a ranking of their relative importance in this analysis. 40 The head of the private clinic (and medical professor) was initially hostile towards me when he first saw me making notes in the waiting room. He informed me I should have asked him formally for access to his clinic before beginning my data collection (unfortunately, I had not been briefed adequately beforehand about the organization of GC2). I became a welcome researcher after I made, and kept, an appointment to inform the head of the clinic about my research, where he was able to give me his critical opinion of the triple screen and his research into an improved alternative. Chapter one: normalising bodies and technologies page 39 did genetic counselling: a social worker (S1, who attended only once, for a consultation with a couple to discuss prenatal testing for Huntington disease, and who came within her professional jurisdiction as she was employed specifically to counsel people affected by this genetic abnormality), an experienced genetic counsellor (G3, who did not attend often) and a genetic counsellor in training (G6), who was responsible for organising the clinic as well as providing genetic counselling to women of ‘advanced maternal age’.
Of the medically qualified professionals, three medical geneticists in training
(C29, C30, and C33) attended regularly. Two qualified medical geneticists attended. The more senior one (C8), who was in charge of the nearby medical genetics unit, attended only once. The medical geneticist responsible for the genetic counselling clinic (C10) attended all clinics. A doctor who carried out prenatal diagnosis procedures (C32) was observed in one genetic counselling session. All except C32 travelled to the clinic from the genetics clinic (GC4) of a nearby large teaching hospital for children (H4) where they were employed.
The mixed public/private clinic (GC2) was staffed by one genetic counsellor in training (G15) who was at an early stage of training, thus she only observed clinics and therefore I could not observe her doing genetic counselling herself. There were also two medical geneticists (C3 and C14, although C3 was not observed doing genetic counselling) and three medical geneticists in training (C13, C31 andC33, although one (C13) was not observed doing genetic counselling, and (C33) was observed also at GC7, as the training program involved rotation through different clinics). A doctor
(C6) who carried out prenatal diagnosis procedures also occasionally performed genetic counselling: she was interviewed but not observed doing Chapter one: normalising bodies and technologies page 40 genetic counselling.41 All the genetic counselling professionals at GC2
(except for C6) travelled there from the genetics clinic (GC3) of another nearby large teaching hospital for children (H6) where they were employed.
At the private clinic (GC6) the doctor (C5) was unusual in that he was both a certified medical geneticist and trained obstetrician and proceduralist.
He performed prenatal diagnosis procedures at both public and private hospitals, and provided genetic counselling in his private rooms prior to the procedure. Because he had medical training in both prenatal diagnosis procedures and in medical genetics, and was an active participant in the medical genetics arena, he was able to work at a greater distance from the medical genetics clinic and in both public and private sectors.42
For other fieldwork associated with the above three genetic counselling clinics, I attended pre- and post-clinical discussion meetings for the two hospital-based clinics: twelve pre-clinical and three cytogenetics discussion meetings for GC7; and five pre-clinical meetings for GC2 (I was unable to attend any associated with GC6, as I had not applied for clearance from the
IEC attached to any of the hospitals that he worked in).
Forty-two semi-structured interviews, each of about one hour in length, were conducted with a range of health professionals in the prenatal diagnosis social world. There were twenty-nine health professionals in total: ten medically qualified (geneticists and those in training for that profession, and
41 C6’s genetic counselling skills were accepted by her colleagues as she performed the role of the professional genetic counsellor in an educational video on prenatal diagnosis (NSW Health 1990b). 42 C5 was active in the major professional association within the medical genetics arena—the HGSA (Human Genetics Society of Australasia)—including being elected President, a member of an expert committee advising the State government, and in charge of a government-funded investigation of a new state-wide maternal serum screening program. Chapter one: normalising bodies and technologies page 41 a proceduralist); fourteen genetic counsellors (at various levels of training and including some who had later transferred to other roles, such as genetic education and administration); and six others, comprising a medically qualified cytogeneticist, a non-medically qualified hospital scientist, a genetics epidemiologist, genetics social worker, and a qualified teacher working in genetic education. The interview guide (see Appendix 5) aimed to gather information on professional training, work activities, views about genetic counselling and the technologies discussed, and any ethical issues thought important to genetic counselling. Three genetic counsellors and one proceduralist were available for in-depth interviews that helped me to more fully explore the questions in the interview guide.
In addition, I attended conferences, seminars and other meetings and events designed for educating some of the heterogeneous actors in the prenatal diagnosis social world and which many of the professional participants in my study attended (I tape-recorded and transcribed proceedings where possible). They events included: meetings for self- education of genetics, medical and other professionals (ie, the annual HGSA meeting, two symposia on prenatal diagnosis, two seminars on genetic counselling at H6 and H7, one seminar on the triple screen at the university attached to H7, and a small-scale journal club for medical, genetic counselling, laboratory and other staff at a medical genetics unit (GC4); education of general practitioners at a large-scale GP education day on medical genetics (held at H4); and education of members of the public in a display for ‘Genes Week’ in the foyer of a hospital (H6).
I also took notes of interviews with, and observations of, clerical and Chapter one: normalising bodies and technologies page 42 other workers who administered the genetic counselling clinics, and observed the layout and day-to-day functioning of the clinics. The clerical workers (in particular, the clerk in charge of the publicly funded clinic, GC7) were crucial to the success of my study, as they sent out my initial approach letters to women they booked into the clinic. I needed to approach women before their appointment in order to plan my activities successfully at each clinic (eg, to space observed genetic counselling sessions well apart, and thus allow for variations in length of time of different sessions, and to allow for sufficient time before a session to obtain consent from the clients to participate in my study). They also helped me to gain practical knowledge of the organization of the genetic counselling clinic (especially when the clerk in charge of one clinic (GC7) allowed me to work at the enquiry counter and answer telephone calls) and to hear some gossip about a controversy in the clinic (my informant refused, however, to give me consent to use it in any of my written analysis).
Fieldwork was guided by qualitative methods described in Guba &
Lincoln (1989), Minichiello, Aroni, et al. (1990), Silverman (1985; 1993), and
Wadsworth (1997).43 Because of the large amount of data I collected and my
43 My decision to use the social worlds/arenas theory of some symbolic interactionists was made after the fieldwork had begun. My PhD supervisor at that time was an historian of science and medicine, and her knowledge and skills in the sociology of scientific knowledge inspired me to use an empirical sociological method to complement a contemporary social history. I wanted to add my own interpretion of what I observed in the performance of discursive practices. Consequently, early in my postgraduate enrolment I attended (as an interested, unenrolled student) a postgraduate qualitative methods course run by a medical anthropologist in another department at my university. That course, and my geographic distance from social worlds/arenas theorists, led me to consider the eclectic methods of Silverman (eg, see (Silverman 1993)) and to question the positivist assumptions inherent in some formulations of grounded theory methods of symbolic interactionism (for example, see Strauss (1987; 1998)). As I pursued my fieldwork and analysis, I became increasingly influenced by what I saw as the many strengths of a pragmatist approach and the concepts developed in social worlds/arena theory. Chapter one: normalising bodies and technologies page 43 limited resources as the sole researcher, I did most of my analysis after data collection, rather than concurrently. After attending a training workshop, I analysed the data using QSR NUD•IST“ software (version 4.0, Qualitative
Solutions and Research Pty Ltd, La Trobe University, Victoria, Australia).
Simple quantitative analysis was also carried out (eg, see Tables 1 and 2,
Chapter 5). Genetic counselling sessions were the initial focus for analysis, and words, concepts and themes were coded and analysed for a preliminary sample of eleven genetic counselling sessions. Both the process and content of the genetic counselling sessions were analysed with respect to issues of
‘non-directiveness’. Other themes and concepts that were identified included those about technologies, bodies, risk, choice, professional expertise and normality. During fieldwork in the genetic counselling clinics (May 1993 to
February 1994) I began to consider Fujimura’s (1992) concept of standardised packages, which appeared to explain some of my data.
However, I also sought additional theoretical tools to describe the power relations ‘written into’ the maternal body. Foucault’s theories on biopower and government of the body proved to be relevant and useful. His historical methods of examining documents were applied to the documents generated in my fieldwork. They were also applied to the medico-scientific literature, which I analysed initially by NUD•IST. However, as the texts were already entered into a bibliographic database (ProCite“, version 5.0, ISI Research
Soft, Berkeley, California, USA) I simply searched for key words and author names on the database, and found it a more efficient tool (especially with the most recent version that is faster and has a greater storage capacity). Chapter one: normalising bodies and technologies page 44
1.4 Organization of this study
I describe socio-historical power relations through localised interactions in the genetic counselling clinic and broader relations beyond, which produce and operate knowledge claims, technologies and bodies with respect to prenatal diagnosis.44 I describe prenatal diagnosis as a package that contains theories about bodies—such as constructions of genetic and rational maternal bodies—and standardised methods—such as screening tools that produce and use risk estimates of chromosomal abnormality in the fetus, prenatal diagnosis procedures such as amniocentesis and CVS, and cytogenetic laboratory methods that produce a karyotype45 that defines genetic abnormality. Some of the components—such as genetic counselling and the karyotype—can act as boundary objects. The following four chapters rotate the standardised package through four sectors of social relations that govern the maternal body, in order to provide an analysis of an ethics of reproductive choices about prenatal diagnosis in the concluding chapter.
In Chapter two I describe how health professionals construct a trajectory for genetic counselling that materialises46 a genetically determined reproductive body, which is dangerous to the fetus by transgressing norms of an ideal type as it undergoes an ageing process. The process and content of a genetic counselling session funnel attention onto abnormalities of the
44 My choice to work on this study was the result of my previous work in medical genetics policy in New South Wales, when new genetic counsellor positions were funded throughout the state. My uncertainty about the effects of, and my role in, this change and my interests in feminist politics led me to explore social and ethical questions as an independent researcher. 45 See Chapter 2, sub-section 2.5.1, for a description of a karyotype. 46 I use the term ‘materialisation’ to follow Butler’s dynamic model of the construction of bodies and the active role of the body itself. For Butler, matter is defined 'not as a site or surface, but as a process of materialization that stabilizes over time to produce the effect of boundary, fixity, and surface we call matter' (Butler 1993: 9, 187). Chapter one: normalising bodies and technologies page 45 maternal body—of the fetus as a product of a genetics origins story about its mother’s reproductive organs. Medico-scientific knowledge and practice construct the younger maternal body as a norm and the ageing process as the pathological transgression that is harmful to the fetus. ‘Reassurance’ is offered through knowledge about the genetic body and a risk discourse for identifying these dangers to the individual woman and her fetus.
In chapter three I explore the multiple meanings of the term ‘eugenics.’ I describe the construction of (at least) three models of genetic counselling as ethically progressive alternatives to eugenic population control by medicine and government. Health professionals construct these models of genetic counselling as ways to delegate control to the parents, who must exercise reason as autonomous and active decision-makers. On the other hand, I describe how genetic counselling strengthens the government of the maternal body by mobilising medicine and science to act through a technology of the self—genetic counselling —a disciplinary technology of the self that individualises and normalises. The genetic counselling clinic uses the rituals of ‘examination’ and ‘confession’ conducted by a health professional, whose authority intervenes to judge the relevance of information provided. I describe how this technology of the self has been effected through the professionalisation of medical genetics and genetic counselling as a response of resistance to eugenic ‘monster’ stories. I include an in-depth description and analysis of the formation of the discipline of human genetics and a medical genetics arena in Australia, as well as the further segmentation of the workforce with the introduction of the Master’s level genetic counsellor.
Changes in the division of labour in genetic counselling, especially with Chapter one: normalising bodies and technologies page 46 widespread new screening technologies, have challenged its ability to act as a boundary object because of the greater plasticity required for the local needs of actors in a greater range of intersecting social worlds. Activities identified as genetic counselling undergo shifts in meaning and identity as they are performed by new health professionals entering the prenatal diagnosis social world. Such negotiations over genetic counselling’s meaning and practice threaten to reduce the sense of choice for pregnant women. For example, I describe in Chapter five how women who have a serum screening test have often received only a small amount of information before the test, with genetic counselling usually reserved for a later time, for those who get a ‘high risk’ result. Older women unable to use maternal age to access genetic counselling services and excluded because of a ‘low risk’ result after serum screening could also have less sense of choice.
In Chapter four I examine how a range of solutions for assembling individual women’s bodies with various components of the standardised package governs the problematisation of the maternal body as dangerous to the fetus. Genetic counselling offers solutions through knowledge claims about what is available, how well it works and how safe it is. These claims co- construct a diversity of normalised maternal bodies that a woman must consider in making ethical decisions about possible dangers to the fetus and her choices of technological solutions. Claims about how well technologies work construct those with high certainty as ‘diagnostic’ tests, compared with those with less certainty as ‘screening’ tests. Technological choices involve balancing such claims against those of safety, where tests of higher diagnostic efficacy have less safety. Furthermore, I describe the construction of choices Chapter one: normalising bodies and technologies page 47 between different tests of higher diagnostic efficacy, and how medico- scientific professionals alone make some of these choices.
In chapter five, I describe how the standardised package is a means of genetic surveillance and regulation for governing populations. Health professionals working in prenatal diagnosis and in the intersecting social world of medical genetics have long exerted professional resistance to
‘monster’ stories about their involvement in eugenics, by constructing their role as providers of facts to government and to individual decision-makers in the clinic. I include an in-depth description of the historical development of relations between medicine and government in the development of prenatal diagnosis services in Australia. I extend this further to analyse the strengthening of these relations with the invention of a new screening technology, which aims to reduce fetal harm and which has struggled to become part of the prenatal diagnosis standardised package.
In Chapter six I provide a summary and conclusions about the promises of ‘monsters’47 in an ethics of prenatal diagnosis and its normalisation of the maternal body. The notion of the ‘monstrous’ birth as an error of nature arose and coexisted with notions both of the prodigy and of the spectacle for sport in the 16th century. It then consolidated by the 18th century to normalise the ‘wonder’ of bodily anomaly as an irregularity of nature in moral, religious and scientific terms (Daston and Park 1998: 173-214, 365). My study describes how that notion continues to perform a role in contemporary
47 Haraway coined the phrase ‘promises of monsters’ in order to construct an alternative politics (or ‘hopeful moral tale’), describing contested knowledge claims about nature with the aim of dissolving binaries between the social and technical, and natural and technological (Haraway 1992). Chapter one: normalising bodies and technologies page 48 medical science of confirming the reality of its claims and the general subjection of nature and technology to knowable regular laws. The model of
‘non-directiveness’ ensured that genetic counselling became a firmly fixed element in the standardised package since amniocentesis first was introduced. The inclusion of abortion practices within the package was supported by its shared discourse with genetic counselling based on notions of liberal individualism and ‘informed reproductive choice.’ Genetic counselling and the other components of the prenatal diagnosis standardised package have naturalised the subject(s)—the ageing maternal body—as material objects of Nature that perform in a predictable way. Hence, they are governable through the construction, measurement and regulation of bodily and technological abnormalities by the individual, medicine and government.
Thus, I conclude by analysing how medicine, science and government form a complex ethics of reproductive choice. They identify an array of bodies that are to be governed—some are more strongly materialised than others—that include parts of bodies, and bodies as individuals and in groups.
They construct different (and potentially competing) moral reasons for governing oneself. They mobilise diverse technologies and techniques for governing oneself—not only screening and diagnostic tests, but also genetic and other counselling, and self help groups. Finally, I describe how they construct (again, potentially competing) aims for governing oneself. Such an analysis of the complexity of bodies, technologies, and social relations has the potential to act as a guide for new understandings of, and actions in, ethical decision-making about prenatal diagnosis.
* * * * * page 49
Chapter Two
Regulating Reproduction—Generating Abnormal Bodies
2.1 Introduction
If you think about any of us having a pregnancy, we all have some risk of having a child born with some problem like a hole in the heart, a cleft palate, or intellectual disability. And that doesn’t change for us, no matter how good or what age we are during our pregnancy. That’s about a three to four percent risk. And the only thing that starts to go up for us—as females as we get older—is the chance that we would have a child with a chromosome abnormality, such as Down syndrome. (A female medical geneticist providing genetic counselling to a 37-year old woman who is 12.5 weeks pregnant with her second child.)1
In this chapter I describe the role of the prenatal diagnosis standardised package in governing reproduction as one of constructing a genetically determined maternal body to be the core part of the self to be governed. I describe a means of doing this in the trajectory of genetic counselling, which I describe as a funnelling process that concentrates on the fetal body as the part of the self to be governed in an ethics of reproductive choice. The verb ‘to funnel’ can mean either to ‘concentrate’ or ‘focus’ (Delbridge et al. 1998). I use it to describe the genetic counselling trajectory as an active process of concentration, in that it is an activity that concentrates the attention of the participants on to a genetically determined and normalised body. The
1 C14; U28W-C14: 80. I have identified participants cited in this research project anonymously, by a system based on sequential numbers assigned to the women (W) and their partners (M) whose genetic counselling sessions I observed, and to the health workers observed or interviewed, where I identify their professional grouping by G (non-medically trained genetic counsellors) and C (medical geneticists). Line numbers identify the location of the quoted text from transcripts. For example, an excerpt from the 80th line of a transcript of the 28th genetic counselling session I observed between medical geneticist C14 and a female client is represented by U28W-C14: 80 (U28W signifies a Woman Using the 28th genetic counselling service that I observed). Similarly, G3i1: 5 would represent a quotation from the 5th line of a transcript of the first interview with the genetic counsellor G3. Some genetic counselling sessions were only transcribed in part, and these are shown by ‘/PT’ (eg, U10W-G6/PT). Chapter two: regulating reproduction page 50 funnelling action of genetic counselling in the clinic is co-constructed by interdependent socio-historical processes that are described in this study.
They comprise the medico-scientific discoveries that construct and normalise a genetically determined material body (discussed in detail in this chapter), professional practices that have concentrated expertise in the arena of medical genetics (discussed in more detail in Chapter 3), particular interactions between bodies and technologies (discussed in more detail in
Chapter 4), and the government of access to prenatal diagnosis (discussed further in Chapter 5).
The funnelling process begins with the health professional initiating discussion of the general dangers of fetal ‘abnormality’ (ie, problematising fetal anomaly). The authority of empirical medico-scientific data can then strengthen the materiality of fetal abnormality in a risk discourse that quantifies the likelihood of its occurrence. I then discuss how the trajectory of genetic counselling concentrates on the primary role of genetics in the formation of fetal abnormality. I describe this in terms of: the historical formation of professional and institutional elements; medico-scientific claims about chromosomal difference and the invention of prenatal diagnosis technologies and techniques for its identification; and the concept ‘genetic termination.’ The trajectory of genetic counselling continues with the health professional using empirically derived data and laboratory-generated representations of a genetic body to materialise the specific genetic dangers of chromosomal abnormalities in the fetus. Moreover, the health professional constructs these genetic dangers of chromosomal abnormality not in terms of hereditary origins but, rather, concentrates attention on their origins in the ageing maternal body, a body that is also the subject of ethical work in Chapter two: regulating reproduction page 51 making reproductive choices. The efficacy of this trajectory can be illustrated by a genetic counselling session I observed in this study, in which a 37-year old woman chose to have an amniocentesis test despite having expressed no fears about danger to her fetus—she stated that she was 'healthy,' her fetus was 'normal,' and an ultrasound had demonstrated that it was alive.2.
In the genetic counselling work that I observed, the materialisation of fetal abnormality was mediated sequentially by the following three core activities. Firstly, health professionals sought accounts of bodily abnormalities (such as mental retardation and ‘birth defects’) occurring through time, by collecting and interpreting a family history of the clients, including the woman’s previous reproductive history. Secondly, they provided knowledge claims about dangers to the health of the fetus as the primary focus of concern about the maternal body. Claims about general risks to the health of the fetus were used to contextualise a risk discourse about chromosomal abnormalities in the fetus and, in particular, Down syndrome caused by increasing maternal age. Lastly, if the woman indicated that she would have prenatal testing, they used a consent form to review the limits and dangers to the fetus from the maternal body and from any technological interventions.
The next section of this chapter examines the initial funnelling process that renders fetal abnormality visible whilst offering reassurance that most fears of it occurring will not be realised. Unlike perhaps most other obstetric services, genetic counselling openly discusses the risks of
2 U28W; U28W-C14: 158-176. The woman did not have a choice between CVS and amniocentesis, as the gestational age of her pregnancy was beyond the maximum safety limit claimed for CVS. Chapter two: regulating reproduction page 52 fetal abnormality in order to problematise chromosomal and other genetically determined abnormality.
2.2 Problematising fetal abnormality
But your risk is actually not very high. And so what you’re really having the amnio for is not to show you if the baby’s got Down syndrome. You’re really having it to show you that it doesn’t have Down syndrome. You’re really having it for reassurance. (A medical geneticist in training to a 37-year old woman and her partner in the mixed public/private clinic.) 3
In observed clinics, the trajectory of genetic counselling began by problematising fetal abnormality whilst also offering reassurance in scientific authority, technological solutions and an ethics of reproductive choice. An
Australian survey found that the most important factor for women in general prenatal care is to receive reassurance about the absence of fetal abnormality.
Most women reported satisfaction with the wide range of standard prenatal tests, including genetic prenatal testing, which are offered to provide this reassurance (Brown, Lumley, Small, and Astbury 1994: 34-36).4 In other words, pregnant women can problematise fetal abnormality but find hope through reassurance offered by technological choices that prenatal testing technologies can help them realise their aim of giving birth to a healthy baby.
The funnelling process began through a shared language about ‘health’ to signify bodily abnormalities that were sought within the family lineage. For example, questions were asked about previous generations, about the clients
3 U45W/M-C31: 505-513 4 Tests routinely offered included: simple checks of the baby’s heartbeat and length, and of the mother’s blood pressure, fluid retention, proteinuria and weight gain; more complex testing using ultrasound, electronic monitoring of fetal heartbeat, glucose tolerance testing and prenatal genetic testing. Chapter two: regulating reproduction page 53 and their siblings in the current generation, and about the next generation with respect to previous pregnancies of the clients and their siblings:
G3: What about your parents? Are they healthy? (Female genetic counsellor to a 40-year old woman in public clinic.)5
G6: And your partner’s health, as well, is he U29W: Yeah, he’s a healthy specimen … G6: And do you have brothers and sisters? U29W: Two brothers older than me. G6: And do they have children? U29W: Yes. My eldest brother’s got four boys. G6: And they’re all fine, are they? (U29W nods yes) … And your other brother? U29W: My second brother’s got two. One boy, one girl. They’re both healthy. (Female genetic counsellor in training and a 37-year old woman in public clinic.)6
Searching for fetal abnormality problematises anomaly and can increase existing parental fears. To counteract this, health professionals who practise genetic counselling interpret their work positively as a beneficent act of
‘reassurance,’ as shown in the example at the beginning of this section taken from an observed genetic counselling session. 7 In observed genetic counselling clinics, clients expressed fears about the dangers of fetal abnormality to various degrees. Some denied it explicitly. For example, one woman described her participation in the clinic in terms of rational choice as an autonomous decision-making individual: ‘I’m not anxious, I’d just like to
5 U19w-G3; G3: 152. 6 U29W-G6: 163-165, 197. 7 Similar examples can be found in the medical genetics literature (de Crespigny 1994: 9; Liu, Symonds, and Golbus 1987: ix; Migeon 1978: 115). It should be noted that, because of their prior knowledge of potential dangers to the fetus, the health professionals may hope to reassure themselves as well as their clients. Chapter two: regulating reproduction page 54 know the options’.8 Others actively contributed to making the dangers of fetal abnormalities more visible, and their ethical work was aimed more at having a normal ‘healthy’ baby. For example, in contrast to the woman in the previous example, another woman focussed more on the effects on the fetus of her past behaviours and bodily abnormalities. After the doctor had introduced all the usual knowledge claims about bodily abnormalities and technological solutions, the client raised a number of questions about the potential dangers to the fetus from what many might view as minor dangers
(a common vaginal infection, a ‘difficult vagina’ with a Pap smear, and over- the-counter medications—a cough syrup, a multivitamin supplement, and a small number of mild analgesics—she had taken during her pregnancy).9 She appeared to have a less developed sense of herself as an autonomous rational individual, when she said:
(…) You’re an expert. I don’t know. (…) [Laughs] I don’t know. I’m just thinking. [Laughs] (…) This is all a magical thing. And, er, um, oh dear. M-mm. Less miscarriage. (…) (A 39-year old woman to a female medical geneticist in training in the public clinic.)10
Down syndrome and mental retardation were specific abnormalities of the fetus that were often first raised for discussion by women aged 37 years or more (about 20 percent of them did so),11 most likely reflecting the diffusion of genetic knowledge into the community through professional ‘education,’ the media and word of mouth from others who had experienced prenatal
8 U8W; U8W-G6: 368. 9 U14W; U14W-C29: 973, 1000, 1042-1223 10 U14W-C29: 738, 952, 956 11 Some women had not initiated their visit to the prenatal genetics clinic. For example, one of the publicly funded maternity clinics in this study had a policy of automatically making an appointment for genetic counselling for women aged 37 years or more at the expected date of delivery, in addition to the antenatal clinic visits about which they would have initially inquired. Chapter two: regulating reproduction page 55 diagnosis services. Interestingly, however, another issue raised just as often was the effects of their own, their partner's and/or family's use of alcohol or other drugs. These concerns were about the effects of alcohol as both a danger from the external environment (ie, the danger of alcohol to fetal development after ingestion) and internal to the body (ie, the danger of alcoholism as a genetically-determined behaviour).
For one 35-year old woman, her previous child’s severe skeletal anomalies had already made visible the danger of a specific fetal abnormality.
She limited her problematisation of fetal anomaly to the specific manifestation in the child she had already borne, and the fear it might be genetically determined. She resisted the normalising discourse in genetic counselling about the dangers of maternal age and chromosomal abnormality in the fetus. Instead, she used an ethical aim of acting as an autonomous decision-making individual to identify that she was seeking to govern her future emotional well-being through prevention of a specific fetal abnormality:
I’m relatively fit ... I am more frightened of having another child like my son because I couldn’t take the pain. With my son I go through pain all the time ... I don’t have a fear of a chromosome abnormality. I don’t have it within me. I just don’t have that fear at all. ... as I said I don’t feel that I have a chromosome problem deep within me. ... I feel that I don’t have that many chances left of having a baby, you know. (Laughs) (36-year old woman who is 6 weeks pregnant with her second child during genetic counselling with a medical geneticist.)12
As a technique for governing ethical work, genetic counselling renders fetal abnormality visible through claims not only about risks to the fetus from dangers internal and external to the maternal body but also about dangers to
12 U17W; U17W-C32: 215-216, 494, 556, 560. Chapter two: regulating reproduction page 56 the body posed by the technological intervention itself. Of all the claims about risks to the fetus, technological interventions are the only ones over which the clients are offered a sense of choice. The fetal part of the self can be governed by an ethics that compares risks of naturalised fetal abnormality with the potential risks of fetal abnormality caused by technological intervention itself
(and the comparative risks of different technologies—see Chapter 4). For example, one 35-year old woman expressed this ethical work as follows:
I've got more of a fear of ... miscarrying a healthy baby with having a CVS (chorionic villus sampling—a prenatal diagnosis procedure) than I have of finding out that there's something wrong (with the baby). (A 37-year old woman who is 8.5 weeks pregnant with her first child during genetic counselling with a female medical geneticist)13
For the client, the genetic counselling process of making fetal abnormality visible was in tension with the aim of her ethics to choose a technological intervention that maximised fetal survival.
In summary, the funnelling process begins by problematising fetal anomaly. The role of health professionals in rendering fetal abnormality visible during genetic counselling may increase already existing fears that pregnant women may have about possible dangers to their fetus. To counter this, the health professional can provide pregnant women with reassurance that they can practise an effective ethics of reproductive choice by exercising choice about possible technological solutions. In observed genetic counselling clinics, both health professionals and clients worked to make fetal abnormality visible. However, health professionals most often initiated the work using a standard clinical interview that searches for health
13 U45W; U45W-C31: 614, 618, 624, 643. Chapter two: regulating reproduction page 57 abnormalities. The search for genetic relationships in time and space constructed the fetal body as continuous with the maternal and other bodies, but began a process of concentrating on the fetal body as an object in itself to be governed. Clients expressed a range of understandings about the type and extent of fetal abnormality that needed to be governed, and some resisted concentrating on the fetus by expressing concerns also about governing their emotional well-being.
2.3 Measuring risk of fetal abnormality
When monstrosity has become a biological concept, when monstrosities are divided into classes according to constant criteria, when we presume to imagine that we can provoke them experimentally, then the monster is naturalized. The irregular submits to the rule, the prodigy to the predictable. Canguilhem 1965 cited in (Huet 1993: 102).
In this section I describe how the trajectory of genetic counselling naturalises fetal abnormality using a risk discourse based on population studies to quantify and normalise fetal abnormality. This part of the trajectory acts according to Canguilhem’s description (shown above) of the normalisation and naturalisation of biological phenomena. In genetic counselling, after health professionals have made fetal abnormality visible as a medico- scientific problem, they can then classify and quantify abnormality. The health professional deliberately uses a risk discourse about fetal abnormality in order to provide a constant reference point for comparing specific chromosomal and other genetic risks to the fetus (Harper 1988: 11). By naturalising a measurable and predictable 'background' risk of general fetal abnormality as a standard, the health professional can use a normalising risk discourse to govern an ethics of reproductive choice by concentrating on the Chapter two: regulating reproduction page 58 dangers of chromosomal abnormality that can be measured, judged and disciplined.
Providing risks about general fetal abnormality in genetic counselling has been advocated since prenatal diagnostic services were first introduced with amniocentesis in the early 1970s. Commonly used estimates derived from empirical population studies at that time14 have remained relatively stable in claims made since then. Estimates made over this time include the following rather daunting claims about risks of fetal abnormality: about 40 percent of pregnancies are abnormal, with many ending in an unrecognised abortion; 15 percent of pregnancies end in a recognised spontaneous abortion, about 3 percent of pregnancies produce a baby with a serious congenital malformation or developmental abnormality, and the incidence of chromosomal abnormalities at birth is about 0.5 percent (Gardner and
Sutherland 1989: 24; Hassold and Jacobs 1984: 48; Jacobs 1979: 71-72;
Lancaster, Hurst, Day, Huang, and Shafir 1997; Lubs 1971: 67-75; Roberts
1970:260; Young 1992b: 173). Similar knowledge claims were provided in the
14 Estimates were drawn from a wide range of international studies on congenital abnormalities, including a study on birth abnormalities in Japanese babies and the effects of radioactivity following the US bombing of Japan (Townes 1970: 42). In her historical study of the scientific studies of radiation effects of the bombing of Hiroshima and Nagasaki in 1945 conducted for the Atomic Bomb Casualty Commission, Lindee (1994: 169-241) has described how uncertainties affected this key scientific study. Uncertainties in measuring genetic abnormalities in human populations led to redefinition of mutation only in terms of change judged as socially undesirable (eg, spontaneous abortion, reduced fertility and ‘minor’ malformations were excluded because they were judged not to be harmful to the gene pool, unlike poor performance at school which was included as a measure of harm to intelligence). Uncertainties in measuring radiation dosages and in controlling confounding variables led to a restricted data base that excluded, for example, women over 35 years of age. Finally, uncertainties in the public and institutional interpretations of the research affected decisions about what data were included and the way they were reported. Chapter two: regulating reproduction page 59 observed genetic counselling clinics in this study.15
The bodies of the newborn have been most accessible to surveillance and, hence, there has been greater certainty in estimates of abnormality after birth than for the fetus before birth. However the more recent developments of new reproductive technologies, such as IVF, have made the fetal body more accessible (Court-Brown and Smith 1969: 74; Royal College of
Physicians of London 1989: 2; Sergovich, Valentine, Chen, Kinch, and Smout
1969: 851-855; Walzer, Breau, and Gerald 1969: 438-448). A range of other technologies in the medical genetics arena (eg, birth defects registers and the prenatal diagnosis standardised package itself, in which medicine and government use data provided by the laboratories that analyse samples after prenatal diagnosis and abortions) has intensified surveillance and centralised control, although their use has been inconsistent at the local level.16
Fetal death (such as in miscarriage) can be considered an extreme
example of fetal abnormality. Knowledge claims about the incidence of fetal
death during pregnancy have been revised upwards since the inception of
genetic counselling for prenatal diagnosis over thirty years ago. More recent
biochemical studies have extended the medical gaze to earlier stages of
pregnancy and therefore raised estimates to about 40 percent of all
pregnancies, compared with earlier estimates of between 12 and 20 percent
of recognised pregnancies (Kalousek, Pantzar, Tsai, and Paradice 1993;
15 Interestingly, one nurse counsellor, who had not been trained as a genetic counsellor and yet provided genetic counselling about prenatal diagnosis, rejected the necessity of providing medical facts about fetal abnormalities. The counselling model she favoured, instead, prioritised the emotional state of the couple receiving genetic counselling. (G4; G4i3: 470, 475, 481, 579) See Chapter 5 for further discussion. 16 For example, by the early 1990s in Australia, birth defects registers had been established in individual states, and one state (South Australia) had legislated to require notification of terminations. In contrast, no program of surveillance had been instituted at that time in the UK (Lancaster et al. 1997: 6 & 30 & 107; Royal College of Physicians of London 1989: 39). Chapter two: regulating reproduction page 60
Warburton and Fraser 1964; Wilcox, Weinberg, and O'Connor 1988). An
example from fieldwork in this study is in the statement made by a non-
medically trained genetic counsellor during an interview, in which she
described prenatal diagnosis done at ten weeks as a ‘very vulnerable time of
pregnancy … Because, I mean, anyone will tell you that one in three
pregnancies will miscarry anyway.’ 17 Fetal death as a direct result of using
prenatal diagnosis technologies is discussed further in Chapter Four.
In summary, this section has described how genetic counselling naturalises a general risk of fetal abnormality for the client.18 A risk discourse serves to naturalise the subject(s)—the maternal body, including the fetus as a separate but also continuous part of the body to be governed by the self—as material objects of Nature that perform in a predictable way. In the funnelling process the health professional can then explain fetal abnormality in terms of an origins story in a genetic maternal body.
2.4 Claiming a primary role for genetics in fetal abnormality
2.4.1 Professional and institutional elements
(M)edical genetics is the science of pathologic variation ... Teratology is, thus, an aspect of medical genetics (McKusick 1983: 1).19
In this sub-section I describe how the funnelling process materialises a genetic body as a norm. The construction of a primary role for genetics in
17 G6; U8W-G6: 488. 18 Similarly, Timmermans and Leiter (2000) have described how the standardized drug distribution system for thalidomide has normalised the risk of birth defects. 19 McKusick’s claim echoes earlier claims, such as by Epstein (1979), and one made much earlier by himself about a primary role for genetics in the biological sciences: “Genetics has done for biology what the atomic theory did for physics and chemistry. In fact, through genetics, all natural science is becoming linked” (McKusick 1961: 146). Chapter two: regulating reproduction page 61 governing fetal abnormality derives from an historical shift in disciplinary authority from anatomy and embryology in the 19th century to genetics in the
20th century. Contemporary professional claims over teratology (such as the one shown above, made by a leading clinical geneticist in the US) illustrate
Foucault’s historical description of a shift in modern medicine’s government of the body away from health and normality towards pathology and abnormality. Nineteenth century medicine did this by turning to anatomy to render the interior of the body visible (Foucault 1973: 196). Likewise, twentieth century clinical genetics has turned to teratology— defined as ‘the science or study of monstrosities or abnormal formations in animals or plants’ (Delbridge et al. 1998). A genetic reading of developmental abnormalities in such claims opens to the medical gaze the interior of a genetic body and relates macroscopic pathological abnormalities to microscopic (and smaller) genetic determinants. Clinical genetics’ claim of authority over teratology thus is an example of Gieryn’s (Gieryn 1995:429-
432) strategy of professional expansion for building and maintaining its authority and power.
In an edition published just before this research study began, a widely used genetic counselling text, published in the UK and used by health professionals in this study, repeated the claim shown above. Harper (1988), a popular text amongst the health professionals in this study, echoed the claim at the beginning of this sub-section when he added a new chapter on the genetic basis of dysmorphology—the study of abnormal human development, and thus a teratology with respect to time that includes the study of fetal abnormalities and ‘birth defects.’ He described how dysmorphology, like molecular genetics, was ‘the most rapidly growing area of medical genetics’ Chapter two: regulating reproduction page 62
(Harper 1988: 73).20. Harper has also made claims about the value of the medical genetics arena to dysmorphology. He has justified this in terms of the large populations covered by individual medical genetics services21 and because of ‘the genetic approach,’ for which he claimed clinical genetics had special methods of diagnosis, record keeping, and information exchange
(Harper 1988: 73-74). In particular, surveillance technologies (such as the clinical examination, long-term family records, birth defects registers, and photographic, laboratory, autopsy and other careful documentation of abnormality) provide a concept of normal for governing large populations of bodies. This concept can then be used to limit professional authority over human reproduction within the boundaries of a medical genetics arena.
Linking the discipline of dysmorphology with these technologies of medical genetics strengthens the role of genetic counselling in materialising and normalising a genetic body, where genetics becomes a primary determinant of fetal and other human abnormality.
Institutional elements have also governed claims about a primary role for genetics in fetal abnormality, and a role for medical genetics expertise in offering reassurance about avoiding these dangers. An historically important example in the construction of a primary role for genetics in fetal abnormality is the March of Dimes Birth Defects Foundation.22 Located in the US, its influence has spread internationally through the growth of medical genetics.
Set up in 1938 as the National Foundation for Infantile Paralysis, it was
20 One of the medical geneticists in my study described himself as a medical geneticist and dysmorphologist. Like many of his Australian colleagues, he had trained and worked overseas for a period of time where this aspect of disciplinary power had shaped the formation of his professional identity (C8; C8i1: 27-28). 21 A medical genetics unit may be responsible for more than 1 million people. 22 The Foundation benefited from Presidential political power, in that it was established by President Roosevelt, a survivor of polio. The well-known comedian Eddie Cantor invented its name (March of Dimes 2001). Chapter two: regulating reproduction page 63 successful in raising millions of dollars for medical research into polio in children, leading to the development of the Salk and Sabin vaccines for its prevention. In 1958, after abbreviating its name to ‘The National
Foundation’, it turned its focus to ‘congenital defects’ (Bergsma 1968: 3),23 funding both research and more than 100 ‘birth defect’ centres that offered genetic counselling (Ludmerer 1972: 190). In the same year, medical genetics as a discipline had become institutionalised in a small number of universities
(Ludmerer 1972:190), various divisions of the National Institutes of Health in the US began to fund medical genetics research (Porter 1977: 29), and the first international conference on human genetics had been recently held
(Littlefield and de Grouchy 1978: 14). In 1959 the Foundation (together with the Jackson Laboratory and Johns Hopkins University) supported medical genetics training by funding the new and prestigious Bar Harbor courses in genetics (March of Dimes 1998b). It financially supported the first three international conferences on birth abnormalities (held in 1960, 1963 and
1969) that, leading clinical geneticists have claimed, were crucial to the development of prenatal diagnosis for chromosomal abnormality (Motulsky and Lenz 1974: 5). In 1965 the Foundation began to publish a long-running series of articles on medical genetics and other research in birth abnormalities (Paul 1982). In 1971 it convened the International Conference on Chromosomes that led to a standardised description of chromosomes (the
'Paris nomenclature') and in 1973 the first International Workshop on
Human Gene Mapping. The Foundation’s broader focus on abnormalities of child health strengthened in 1979 when it changed its name again to the
23 A congenital defect is a bodily abnormality that exists at or from birth. Chapter two: regulating reproduction page 64
March of Dimes Birth Defects Foundation (March of Dimes 1998b). Almost sixty years after its inception, the Foundation's budget was considerable.
Research grants totalled $22.8 million, and an additional $1.2 million was allocated to local organizations, for community programs aimed at increasing access to prenatal and other health services (March of Dimes 1998a). Thus the discipline of genetics was able to increase its professional authority within reproductive medicine and science using an institution that had an already established success record in raising considerable funds from the US public.
Further institutional elements are discussed in Chapter 3, which describes the organization and growth of medical genetics and its professional division of labour that has constructed nondirective genetic counselling and its client as a decision-making individual.
2.4.2 Chromosomal difference
International studies by those working in the medical genetics arena have problematised chromosomes as the structural vehicles for the genetic essence of the body and as major determinants of fetal abnormality (Harper 1988:
48; Hassold and Jacobs 1984: 48; Kaback and Leisti 1975: 53-54; Lancaster et al. 1997; Lubs 1971; Nora and Fraser 1974: 24; Young 1992a: 173).24 For example, studies have estimated that chromosomal abnormalities in the fetus occur in 40 percent of spontaneous abortions25 (Kaback and Leisti 1975: 53) and in 80 percent of all babies with congenital malformations (Young 1992a).
24 Lippman has coined the term 'geneticization' to describe reductionist origins stories that prioritise genetic, over other, differences (Lippman 1991; 1993; 1994). I follow Novas and Rose (2000: 489) who do not accept her interpretation of geneticization as negative and over-simplified, creating passive objectified victims. Rather, they interpret events in terms of the creation of active subjects taking responsibility for their health, which would include their reproductive choices about prenatal diagnosis. 25 The earliest work that linked spontaneous abortion with chromosomal abnormalities was published in the early 1960s (Carr 1963; 1965). Chapter two: regulating reproduction page 65
Similar risk estimates were provided in the genetic counselling clinics observed in this study.
The following excerpt from an observed genetic counselling clinic is an example of how chromosomal difference is given a primary role in fetal abnormality:
And sometimes a pregnancy occurs and it doesn’t continue. And that’s not such an uncommon event. … But a certain number of pregnancies just miscarry ... And if we could have studied the chromosomes in that case we usually find that they are chromosomally abnormal conceptions. And that wasn’t known in mother’s day, or grandmother’s day. Everybody strove to try and prevent miscarriage. But miscarriages are a rather normal event in the sense that it’s Nature’s way often ... they’re just sad events. (Male medical geneticist providing genetic counselling to a 42 year old woman who is 8 weeks pregnant with her first child.)26
The genetic counselling session portrays genetics knowledge as an expression of progressive Western scientific medicine. It naturalises miscarriage as a necessary process for terminating the development of an abnormal (non- viable) fetus, and genetics as the most common cause. It depicts medical genetics as progressive in that it offers a better understanding of that naturalised process, and prenatal diagnosis technologies are implied to be progressive tools that can help nature to do its job. It constructs a maternal body determined by its genetic essence, and chromosomal abnormality as a common error, or accident of nature, beyond the individual’s control. This is in contrast to constructions of health problems by other medical disciplines as an aberration of an essentially normal body with the hope of a cure from the cooperation of the patient as a responsible individual (Canguilhem 1978:
173-174). Such claims about chromosome difference thus use cytogenetics
26 U33W-C8: 133-135 Chapter two: regulating reproduction page 66 science to naturalise and normalise a genetic fetal body and strengthen the disciplinary power of medical genetics. Furthermore, whilst claiming that the incidence of fetal abnormalities is constant in nature (as described in the previous section), health professionals working in medical genetics have relativised this by claiming an increasing importance for their genetic origins—and thus of medical genetics as a theoretical discipline and set of practices—as medicine progressively eliminates other health problems.27
Sex chromosome differences are the most common chromosomal difference detected by prenatal diagnosis—occurring about twice as often as
Down syndrome. 28 Techniques for detecting and differentiating sex chromosomes have been closely associated with the development of prenatal diagnosis, and justified by the aim of detecting sex-linked genetic disease with abortion of affected male fetuses. Towards the end of 1955, within a period of just over one month, four different research groups first reported using fetal sex determination with amniocentesis for detecting genetic difference (Fuchs and Riis 1956; Makowski, Prem, and Kaiser 1956; Serr,
Sachs, and Danon 1955; Shettles 1956). Their similar interests had been stimulated by the invention earlier in the 1950s of laboratory techniques for
27 (For example see Carter 1967: 231; Galjaard 1980; Hook 1983; Jacobs and Hassold 1987; Milunsky 1992a: 174-175; Modell and Modell 1992: 1 & 325; MRC Working Party on Amniocentesis 1978: 5 & 22; Muench 1988: 1; NSWGSAC 1993: 1; Roberts 1970: 156-157). As a result, some have argued that it is important to have prenatal diagnosis services in Third World nations because of the higher absolute numbers there of babies born with genetic disorders (they comprise at least 80 percent of the world population). On the other hand, it has been claimed this should be a low priority compared with other health services that reduce infectious diseases and malnutrition. Others have pointed out that genetic counselling and prenatal diagnosis services in non-Western nations are used largely for sex determination and abortion of a female fetus for privileged minority classes. Moreover, prenatal diagnosis is packaged differently—the concept of nondirective genetic counselling is not widely used, risks and benefits are not discussed, and the medical profession is subject to less regulation than in industrialised nations (Borgaonkar 1994; Jeffery, Jeffery, and Lyon 1984; Kishwar 1985; Penchaszadeh 1993; Wertz and Fletcher 1992). 28 For women aged more than 35 years who have an amniocentesis, sex chromosome abnormalities are said to comprise one quarter of all chromosomal abnormalities detected (Linden, Bender, and Robinson 1996: 468). Chapter two: regulating reproduction page 67 detecting sex differences in various tissues (Riis and Fuchs 1960: 180). Some were cautious about future possibilities for amniocentesis, already anticipating ethical controversies, as shown in one of the researcher’s comments below:
Although transabdominal puncture of the uterus has been carried out often for therapeutic and experimental reasons without accidents, mere curiosity does not justify the procedure, and its practical value is probably limited in the human. If the results are confirmed in animals, however, it might become of great significance in veterinary practice (Fuchs and Riis 1956)
However, amniocentesis quickly became an ideal tool for the ‘prevention of hereditary diseases’ that were sex-linked, such as hemophilia and muscular dystrophy (Edwards 1956; Fuchs, Freiesleben, Knudsen, and Riis 1956; Riis and Fuchs 1960: 180; Sachs, Danon, Feldman, and Serr 1956).
The use of prenatal diagnosis for fetal sex determination and selective abortion of a female fetus has been a highly controversial expression of its early role in materialising and normalising genetic bodies. Even before the
West had adopted amniocentesis, CVS had been performed in China in the late 1950s ‘to help women who desire family planning.’ (Tietung Hospital
1975: 126). However, the authors reported that nearly two-thirds (29 of 46 detected) of the female fetuses were aborted, compared with only 1 of 53 male fetuses detected (Tietung Hospital: 124), and the procedure was later discontinued (Pergament and Fine 1993: 145). In the West, international surveys found there was a significant change over a fifteen year period since the introduction of prenatal diagnosis— those who would accept prenatal diagnosis for sex selection increased from 1 percent acceptance in 1972 to 62 percent in 1985 (Wertz & Fletcher 1990 cited in Paul 1992: 676). For the specific scenario of a couple with four healthy daughters who ask for prenatal Chapter two: regulating reproduction page 68 diagnosis to select for a son, there was a modest but widespread increase in support of prenatal diagnosis between the 1985 survey and another done in
1994 (Wertz and Fletcher 1998: 262).29 In some nations, a majority of those who do genetic counselling would not prevent prenatal testing to detect and abort a female fetus, either directly or by referral, justifying their position in terms of client autonomy (Wertz and Fletcher 1993b). Even in the US, a centre of second wave feminism that challenged ‘sex discrimination’, 62 percent of medical geneticists and 85 percent of non-medically qualified, and mainly female, genetic counsellors valued autonomy over discriminatory sex selection.30 The health professionals in this study followed the US example in prioritising an ethical aim of client autonomy. Although they stated that it was common practice to provide information on the sex of the fetus, many used indirect ways to discourage women from gaining that information.31
More directly, however, they used a risk discourse that placed the more commonly occurring sex chromosome abnormalities—Turner's syndrome
(XO) and Klinefelter's syndrome (XXY)—well below a number of autosomal32 abnormalities—such as Down syndrome— in a prognostic hierarchy of
29 Those willing to allow prenatal diagnosis increased from 25 percent in 1985 to 29 percent in 1994, and those who would refer the client to someone else increased from 17 percent to 20 percent. Thus the total who would allow or refer was 42 percent in 1985, increasing to 49 percent in 1994 (Wertz and Fletcher 1998: 262). 30 The researchers’ data was based on answers to a question about a hypothetical clinical case concerning ‘a couple with four healthy daughters (who) desire a son' and intend to abort a female fetus. The survey intentionally did not collect data on aborting a male fetus, as countries which practice sex selection traditionally favour sons, although this scenario was included in a later larger survey of 37 nations (compared with 17 in the earlier one). The US researchers who did the survey concluded that information on fetal sex should not be provided in genetic counselling (Wertz and Fletcher 1992; 1993a; 1993b; 1993d) 31 For example, when women were informed of the general status of chromosomal normality of the fetus, they were asked to ring back two weeks later when fetal sex would be available in a written laboratory report. Alternatively, they were given the information only if they initiated an inquiry about fetal sex, or if they said they wanted to know after being asked. 32 An autosome is any chromosome in the human body other than the X or Y sex chromosome. Chapter two: regulating reproduction page 69 potential disability, and hence implying a lesser need for abortion33. In addition, only a small number of pregnant women explicitly stated during genetic counselling that they wanted to know the sex of the fetus.34 Some studies have shown that a woman’s decision to abort a fetus diagnosed with a sex chromosome abnormality is affected by who performs genetic counselling
(higher rates of abortion occurred with an obstetrician, rather than a geneticist), the length of time and content of discussion about the prognosis for people born with sex chromosome abnormalities (lower rates of abortion after women have been given more information based on populations studies that show most develop within a ‘normal range’), and the type of prenatal test
(higher rates of abortion occurred in the first semester after CVS than the second trimester after amniocentesis) (Linden, Bender and Robinson 1996:
469, 473; Verp, Bombard, Leigh and Elias: 613). Thus, despite the health professional’s and client’s professed desire to not discriminate on the basis of sex chromosome difference, such fetuses are being aborted. The widespread doctrine of liberal individualism supports the construction of genetic counselling’s clients as autonomous individuals/families. The model of
33 For example, health professionals observed doing genetic counselling stated that sex chromosome abnormalities were usually associated with short stature and/or infertility and were ' not serious' (G6; U10W-G6/PT: 101), or were 'not, in general, associated with the severe physical problems and mental retardation problems that the other chromosome conditions are' (C10; U47W-C10: 239), or 'they have less severe problems in that they often blend in with the normal population. Their IQ tends to be distributed over the learning disability curve' (C31; U46W-C31/PT: 210). This and the example in the previous footnote show how an in-depth smaller scale qualitative study such as this project can describe the contradictions and complexities of beliefs and actions with respect to a highly controversial subject, compared with the different type of information obtained from large-scale surveys such as by Wertz & Fletcher (1993d). 34 For example, six women out of the total of 51 genetic counselling sessions that I observed initiated inquiries about fetal sex detection: one stated that she was 'of two minds' as 'I really don't want to know but if someone else knew ... I'd be so anxious to have that information.' (U7W-G6: 808, 834); and two said they 'wanted' the baby irrespective of its chromosomal sex (one woman, who had two daughters, was from a cultural group that has strong traditions in valuing male more than female children) (U14W-C29: 1235; U23W/M- C29/PT: 335). Chapter two: regulating reproduction page 70 nondirective genetic counselling constructs the health professional’s role as a provider of neutral facts and technologies for the autonomous individual to make rational reproductive choices. Those facts and technologies in the prenatal diagnosis standardised package materialise a genetically determined body that is strongly made ‘real’ in terms of chromosomal difference. Whilst the health professionals practise an ethics that aims to selectively problematise only some bodies with chromosomal differences, such as with
Down syndrome (see Section 2.5), a competing rationality may guide the client’s ethics. Societal values and practices that use the male body as the norm also govern their decision about abortion. Thus anomaly becomes abnormality. By constructing the client as an autonomous individual, health professionals distance themselves from taking ethical responsibility for such
‘irrational’ decisions the client may make.
2.4.3 Genetic termination
That’s what a lot of these women who are undergoing these terminations are really dreading—looking at their babies—because they’re frightened that they’re going to see monsters.35
An additional discursive tool in rendering a primary role for genetics in fetal abnormality has been the development of the concept of 'genetic termination'
(abortion after a genetic anomaly is detected in the fetus).36 Grouped within a class of abortions for ‘medical’ reasons, it has been distinguished from abortions for 'social reasons,' and legitimated by science and medicine’s monopology over knowledge claims made in the clinic and laboratory about genetic abnormality of an otherwise ‘wanted baby.’ The result is a
35 G3i4: 307. 36 International research in the late 1980s estimated that about 1 percent of abortions were done after prenatal diagnosis (Wertz and Fletcher 1993a). Chapter two: regulating reproduction page 71 strengthening of a boundary between two types of maternal body: one that is genetically determined and naturalised as an object of scientific medicine’s claims, and that is set apart from another socially determined maternal body.
In the past, there has been widespread consensus in the medical arena that women do not experience a major problem with the emotional effects of abortion as the birth of that baby is ‘not wanted’ (Dagg 1991; Osofsky,
Osofsky, Rajan, and Fox 1971; Perry, Vekemans, and Lippman 1984;
Romans-Clarkson 1989) For example, a committee of the medical profession in the US concluded:
(T)he incidence of severe negative reactions is low and the predominant feelings following abortion are of relief and happiness. Sadness, regret, anxiety, and guilt are generally mild when they occur (AMA Council on Scientific Affairs 1992: 32-36).
However, medicine has made an exception of women who have a genetic termination of a ‘wanted baby’ after prenatal diagnosis, as evidenced in an early report on ‘emotional trauma’ associated with abortion after amniocentesis (Blumberg, Golbus, and Hanson 1975: 799).
By constructing genetic termination as a solution for genetic fetal abnormality, health professionals also have problematised it as a subsequent cause of emotional abnormalities for the maternal body, for which support groups are a solution. Many of the non-medically trained health professionals, introduced into the medical genetics arena with the contemporary ‘team-based’ approach of clinical genetics,37 have begun to play a significant role in constructing and problematising genetic termination and in offering solutions (Black 1993; Blumenthal et al. 1990; Donnai 1992;
37 A medical genetics team would comprise both doctors and non-medically qualified genetic counsellors, social workers, nurse counsellors, psychologists and educators as well as medical and non-medical laboratory-based workers (see Chapter 3). Chapter two: regulating reproduction page 72
Donnai, Charles, and Harris 1981; Green 1992; Magyari, Wedehase, Ifft, and
Callanan 1987; NHMRC 1996: 27; NSW Genetic Education Program 1992;
Stace 1990; Thomson 1993; White-Van Mourik, Connor, and Ferguson-Smith
1992a and b). Medical genetics thus has extended in time and space the parts of the self to be governed, to include the emotions—the ‘ soul’ (Rose
1990)—beyond the pregnancy. For example, genetic counsellors in the US have devised a protocol that shows considerable concern about caring for parental emotions, with the result of greater professional intervention. The protocol recommended continuing professional contact after ‘genetic termination,’ with at least two telephone consultations and one face-to-face meeting in the clinic with ‘the genetics team.’ An abnormal genetic body was strongly materialised through ‘factual information’ about ‘the final autopsy report, chromosome analysis, and other test results’ as well as discussions of
‘the diagnosis, etiology, and recurrence risk.’ Guided by an apparent boundary between the material and emotional maternal body, the procedure in the clinic was divided into factual and emotional work. Emotional work involved discussing ‘parental adjustment,’ in which the couple were encouraged to talk about their grief and other feelings and future reproductive plans. The couple was ‘discouraged’ from ‘making hasty and/or permanent decisions’ and ‘gentle probing’ was used to refer those whose
‘grief reaction seems prolonged or particularly difficult’ to ‘Mental Health
(counselling) Services (Magyari et al. 1987: 79). Although not stated, the boundary may well have served a disciplinary division of labour between
(male and, increasingly, female) medical geneticists dealing with the ‘facts’ and non-medically trained (mainly female) genetic counsellors to deal with emotional work. Such a ‘team’ approach was used in genetics clinics in this Chapter two: regulating reproduction page 73 study (see also Chapter 5). Moreover, the division of labour also constructs a role for health professionals outside the genetics team, such as longer-term emotional work by psychologists or other health professionals within or even outside the medical arena. Another example is research by a social worker in the US who examined ‘psychosocial issues’ reported by women participating in a major US study on the safety and efficacy of CVS (Rhoads et al. 1989).
She was able to cite sixteen medical texts to support the claim that women can experience ‘grief and depressive reactions’ to a range of pregnancy losses, in contrast to the widespread consensus in medicine (described earlier) that this was not a significant problem (Black 1993: 166).
Other emotional work by genetic counsellors includes attempts after a pregnancy is aborted to normalise the fetus that had previously been defined as genetically abnormal. In order to 'make the loss a reality' (Magyari et al.
1987: 47 & 82), they use objects and rituals to construct the genetically abnormal fetus as a visibly normal, naturalised object that can be subjected to loving feelings by the parents, in turn constructed as responsible and rational in grieving for the loss of their ideal healthy child38.
Similarly, in the UK a widely respected genetic counsellor has concluded that:
Within the context of continuing medical care, professionals have a responsibility to learn about this new kind of grief and to recognize (keeping the couples’ reticence in mind) the signs that may signal a need for professional mental health intervention. Grief cannot be
38 For example, before I interviewed one genetic counsellor, she led me to a 'Viewing Room' annexed to the hospital chapel, where she transferred an aborted, misshapen fetus dressed in baby clothes to a beautifully decorated layette ready for the father to view.38 It should be noted that the normalised display of the fetal body, facilitated by clothing and other devices, was in tension with otherwise visible abnormalities of form and with knowledge claims about internally determined genetic abnormality that had previously circulated in the genetic counselling clinic. Chapter two: regulating reproduction page 74
prevented but may be shortened if couples are given the tools, in the form of skilled preparatory counseling, to come to terms with it (White-Van Mourik et al. 1992a: 73).
Again, an ethics of professional care is clearly being enunciated, together with the necessity for professional expertise and the construction of a normalised psychosocial maternal body.
The concept of genetic termination has served to justify a continuing role for genetic counselling, in helping not only individuals in the clinic but also specialised groups beyond (Black 1993: 164-166; Blumenthal et al. 1990:
158; Landenburger and Delp 1987: 85; Magyari et al. 1987). In Australia, some professional participants in my study were involved in establishing a support group for genetic termination. The idea of such support groups had been imported from overseas39. Unlike those in many other medical disciplines, clinical geneticists have a well-established practice of working with their patients as groups—their work activities include an ‘education’ role liaising with ‘genetic support groups’ that are organised around individual genetic diseases or syndromes.40 Non-medically trained genetic counsellors have played an important role in facilitating liaison with such groups (for example see Weiss & Davidson 2000). In the US in the early 1980s, these links began to strengthen at a national level when symposia were held, with the support of both private and government funds,41 that brought together
39 They referred me to previous work done in England and Wales—with the formation of SATFA (Support After Termination for Abnormality)—and in Scotland—where a genetic counsellor had helped establish and support its 'sister' organization 'CARE' (the Scottish Association for Care and Support after Diagnosis of Fetal Abnormality) (SATFA News, undated newsletter; CARE, undated leaflet). 40 An example relevant to this study is Down syndrome support groups (usually made up of families of people with Down syndrome, in contrast with many others that comprise both those who have been diagnosed with a genetic disease or syndrome as well as their carers). 41 Support came from both the March of Dimes Birth Defects Foundation and the Department of Health and Human Services Division of Maternal and Child Health. Chapter two: regulating reproduction page 75 representatives of such groups and genetic counsellors and other health professionals (Weiss, Karkalitz, Bishop, and Paul 1986; Weiss 1989: 40-41). A model for collaborative medical genetics services has been described in the literature that recommends coordinated activities between genetics specialists, other health professionals and genetic support groups at the clinical and broader national organisational levels (Black and Weiss 1989). A similar path has been followed in Australia where, for example, employees of the NSW Genetic Education Program have worked hard to strengthen links with genetics support groups.42 That support has included helping groups to organise nationally by, for example, publishing updated directories of groups,43 thereby also providing a useful professional resource in genetic counselling for referring clients to a particular group.
The practice of working specifically with support groups for genetic termination also could have been shaped by practices external to medical genetics. In the 1980s parental emotions came to be problematised in new ways with respect to a broad range of reproductive events that fall outside the anticipated norm of the birth of a healthy child (eg, miscarriage, abortion, stillbirth, cot death, infertility and the birth of a child with disability). Both professionals (in and outside the medical arena) and non-professional individuals (for example in self-help groups), and the media have contributed to the construction of this new problem (for example see Fonda and
42 Health professionals comprise 50 percent of the membership of the national umbrella group for genetic support groups in Australia—AGSA (Association of Genetic Support Australasia)—and their influence has been integral to the group gaining funds from the government—the NSW Health Department (Petrie 1999: 91). 43 The first state-wide directory published in 1992 was followed the following year by a more comprehensive directory for Australia and New Zealand. The latter publication also created a greater presence for professional expertise, by including contact details for medical genetics services at the front and, towards the back, ‘genetic fact sheets’ (containing medico- scientific knowledge claims given in genetic counselling) as well as other ‘educational’ information (Black and Weiss 1989; NSW Genetic Education Program 1993). Chapter two: regulating reproduction page 76
Mulhauser 1988; Leroy 1988; Oakley, McPherson, and Roberts 1984).
Examples in Australia at the time this study was done include a private therapist who had held workshops and published a popular book about 'the problem of maternal grief which incorporates miscarriage, termination, stillbirth, neonatal death, cot death, the birth of a handicapped child and infertility' (Nicol 1989). Hospital-based health professionals such as social workers had also begun to organise ‘support groups’ for miscarriage and stillbirth (NSW Genetic Education Program 1992: 40).
In this study I identified an example of partial resistance by non- professionals in medical genetics’ government of a person’s emotions (and, thus, sense of self). A genetic counsellor reported difficulties in maintaining attendance at a genetic termination self-help group. She stated that women and their partners initially were emotionally ‘needy’ and used the group to process their ‘raw feelings.’ She constructed the group positively in terms of it being an opportunity for parents to learn to manage their feelings, such as sadness. However, she also expressed dissatisfaction in peoples’ inability to then support the group in return: as members became ‘more distant from their feelings’ they would leave the group in order to focus on having another child. She contrasted this with other groups such as SANDS (Stillbirth and
Neonatal Death Society) where members stay and become peer support workers for other newcomers. Resistance was partial in that individuals may allow their emotions to be governed in the short term but resist governing others in the longer term.
The difference in behaviour between members of the two types of groups could be explained by differences in the members’ notion of the self.
People who attend a genetic termination support group are governed by an Chapter two: regulating reproduction page 77 ethics of reproductive choice that offers conflicting ways of relating to the self as a caring parent: caring for the health of a future child is in tension with a decision to prevent the birth of a particular abnormal fetus. In contrast, members of other support groups (concerning stillbirth and neonatal death, for example) would more likely understand that their child’s death was beyond their control. It was not possible in this study to investigate the partial resistance to genetic termination groups further. Possibly individuals resisted the technique of public confession44 in such a group situation. Any authority figures present who might be able to console and forgive them, may not have been able to overcome critical judgements by their peers as well as by themselves of their ethical choices. In contrast, the technique of genetic counselling is an individualised encounter that constructs clients as rational decision-making individuals who also have a responsibility to care for their own well-being, where the health professional can ‘exonerate, redeem, purify and unburden’ them by using a model of non-directive genetic counselling with an absence of overt judgement (Foucault 1984a: 61-62).
In this section I have described how claims about a primary role for genetics in fetal abnormality govern an ethics of reproductive choice. Firstly,
44 Foucault described confession as a technology of the self that: is a ritual of discourse in which the speaking subject is also the subject of the statement; it is also a ritual that unfolds within a power relationship, for one does not confess without the presence (or virtual presence) of a partner who is not simply the interlocutor but the authority who requires the confession, prescribes and appreciates it, and intervenes in order to judge, punish, forgive, console, and reconcile; a ritual in which the truth is corroborated by the obstacles and resistances it has had to surmount in order to be formulated; and finally, a ritual in which the expression alone, independently of its external consequences, produces intrinsic modifications in the person who articulates it: it exonerates, redeems, and purifies him (sic) it unburdens him of his wrongs, liberates him, and promises him salvation. ... By virtue of the power structure immanent in it, the confessional discourse cannot come from above, ... through the sovereign will of a master, but rather from below, as an obligatory act of speech which, under some imperious compulsion, breaks the bonds of discretion or forgetfulness (Foucault 1984a: 61-62). Chapter two: regulating reproduction page 78 health professionals working in the medical genetics arena, with institutional support from government and non-government institutions, have exerted authority over fetal abnormality through methods that include extensive techniques of surveillance and genetic counselling as a technology of the self.
Secondly, medico-scientific knowledge claims about chromosomal difference materialise a genetic body—produce a genetic body as a concrete entity—in genetic counselling through stories about the genetic origins of disease, genetic abnormality in the fetus, and the primary role of chromosomal abnormality in deviations from the expected norm of a healthy child. Thirdly, the concept of genetic termination has strengthened the materialisation of a genetic body, as well as problematising the emotional state of the maternal body. The concept of genetic termination has also promised to expand the role of health professionals in governing the self, and I have produced evidence of people’s resistance to some solutions offered by health professionals. Thus, I have described how the funnelling process concentrates further on genetic abnormality in the fetal body as the part of the self to be governed. In addition, however, I have described how the concept of genetic termination introduces the emotional state of the maternal body as another part of the self to be governed. Chapter two: regulating reproduction page 79
2.5 Materialising and problematising Down syndrome
(P)renatal testing implicitly assumes some norm of ability. Not only has testing clearly shaped attitudes toward Down syndrome, making it a privileged reason for abortion, but it gives social endorsement—if not active encouragement—to the abortion of a fetus on the basis of its potential ability (Lippman 1994: 23).
2.5.1 Diagnostic tools and the certainty of the karyotype
The previous sections have described how the trajectory of genetic counselling governs an ethical goal of producing a genetically healthy baby, and this section describes how the trajectory channels constructions of genetic fetal abnormality towards claims about chromosomal abnormalities and, in particular, Down syndrome.. Lippman, a feminist epidemiologist, has expressed concerns (shown above) held by both health professionals and others about how that ethical goal assumes a ‘norm of ability’ and problematises people with Down syndrome. This section describes the historical shift in regulating populations of people with Down syndrome from institutions that housed and studied them to individuals and families in clinics who make reproductive choices about giving birth to them. It describes the funnelling trajectory of genetic counselling that constructs the fetus with Down syndrome (the most commonly detected autosomal abnormality) as a major part of the self to be governed by an ethics of reproductive choice. Down syndrome is the contemporary medical term for a group of abnormalities of bodily and intellectual ability that are claimed to be genetically determined, and with effects that can vary from mild to fatal. It has been of interest to Western medicine for centuries, was first detected by prenatal diagnosis in 1968, and has been claimed to be the causative factor in about 25 percent of school age children with moderate and severe mental Chapter two: regulating reproduction page 80 disability (Ferguson-Smith 1983: 355; Valenti, Schutta, and Kehaty 1969).
Genetic counselling uses the diagnostic tool of the karyotype most effectively to construct Down syndrome as a major part of the maternal body requiring ethical work, and this is described below.
The definition of the role of genetic counselling used by health professionals in this study (see Chapter 1, Section 1.1) has the aim of
‘synthesizing factual information.’ The ‘synthesis’ of claims about Down syndrome as the part of the self to be governed in an ethics of reproductive choice begins with medicine’s use of the diagnostic tool of the karyotype. This is an artefact produced in a laboratory, using any of a range of standardised cytogenetic techniques to visualise chromosomal material in biological samples—usually in the form of photographs in which the chromosomes have been rearranged into a hierarchical order based on chromosomal size and sex determinants.45 Figure 3 shows a karyotype used in the genetic counselling clinics observed in this study. The visual power of a karyotype also can be mobilised outside the clinic, such as in the advertisement for corporate sponsorship of medical research in Australia shown in Figure 4, which articulates heroic medicine as scientific progress towards the normalising goal of a healthy genetic body. In the clinic, the karyotype is a powerful diagnostic tool for visualising chromosomal difference and materialising
Down syndrome as a genetically determined abnormality of the body. It is the product of a standardised technique that helps to stabilise the standardised package of prenatal diagnosis.
45 The term 'chromosome' (from the Greek ‘coloured body’) was first used in 1888 (Waldeyer (1888) cited in Nora and Fraser 1974: 7). Chapter two: regulating reproduction page 81
Figure 3: Karyotype (Barlow & O’Reilly 1991: 14) page 82
Figure 4: Advertisement for corporate sponsorship of an Australian medical research organisation that interprets a karyotype in terms of an iconic image of Australian culture—the lifesaver (Who Weekly, 23 August 1999, Milson’s Point NSW: Time Inc). Chapter two: regulating reproduction page 83
The main chromosomal abnormality attributed to people diagnosed with Down syndrome is trisomy 21—where the cells of the affected individual contain three copies of chromosome number 21.46 Trisomy 21 is claimed to occur in about 95 percent of people with Down syndrome. In addition, however, the karyotype of another 4 percent of people with Down syndrome show structural rearrangements, in which part of chromosome 21 has become attached to another chromosome (translocation) to form three copies of some of the genetic material in chromosome 21. Those working in medical genetics have estimated that about half of these have been inherited through a parent, and half have occurred for the first time in that individual. The karyotypes of the remaining 1 percent of individuals with Down syndrome show a mixture of cells in which only some have abnormalities of chromosome 21 (mosaicism) (Gelehrter and Collins 1990: 174).
Down syndrome can also be diagnosed clinically, but with less certainty.
Commonly identified clinical abnormalities are based on physiological and intellectual differences, such as anomalies in external appearance and in the structure of the heart and other internal organs, and delayed development of physical and intellectual abilities. The contemporary medical gaze has identified similar external bodily differences in artworks dating back to at least the 17th century (Ruhräh 1935: 431 & 438). The first known medical illustration was published in 1876 (Fraser and Mitchell 1876) ten years after publication of Langdon Down’s discovery and description of the abnormality
46 Standardisation of the chromosomal numbering system was established at an international conference in 1960. Chromosomes 21 and 22 were grouped together as the two smallest in size and, despite uncertainties in differentiating which was smaller, consensus was reached to rank chromosome 21 as larger than chromosome 22. When new staining techniques invented in the 1970s challenged the earlier claims, experts at another international conference agreed to maintain the existing nomenclature (Smith and Berg 1976: 169-174). Chapter two: regulating reproduction page 84 that is now known by his name (Down 1866 cited in Smith & Berg 1976:1, see also Volpe 1986). At that time and for the next hundred years, however,
Down’s racialised theory materialised it as 'Mongolism,' linking the intellectual disabilities and physical appearance to an Asian race that was understood to be less developed than Western man in an evolutionary hierarchy based on contemporary Darwinian theory (Smith and Berg 1976:
3).47 However, earlier non-racialised medical descriptions had materialised the differences in the presence of scaly skin, glandular (eg, thyroid) swelling, and a tendency to consumption (possibly due to their confinement in large institutions).48 It was not until the late 19th century and early 20th century that Western medicine differentiated between treatable ‘cretinism’ (the cause identified as thyroid deficiency due to a glandular abnormality) and the
'Mongolian type of cretinism’ for which no treatment was known
(Shuttleworth 1909: 661). Down's nomenclature persisted until the mid-20th century, when medical science reinterpreted the bodily differences in terms of a chromosomal abnormality (trisomy 21) and turned to a non-racialised nomenclature (Down syndrome). The part of the genetic maternal body to be governed had been re-defined in terms of a difference in the genetic essence of the body made visible in the karyotype.
It has been proposed that children with Down syndrome and other developmental abnormalities became visible to medical authorities with the
47 From about the 1930s, efforts began to be made to replace the term ‘mongolism’ with ‘Down syndrome’, when Down’s racial theory of a reversion to a 'lower' racial form had become discredited. 48 These were, respectively, 'furfuraceous cretins' (based on skin abnormalities described by Séguin in 1846 and 1866) and 'strumous cretins' (described in case books at Earlswood shortly before Down worked there as Medical Superintendent from 1858 to 1868 (Smith and Berg 1976: 1). In the early 20th century, Earlswood had the highest proportion of inmates with Down syndrome compared with other similar institutions in Europe and the US (Shuttleworth 1909: 665). Chapter two: regulating reproduction page 85 introduction of compulsory schooling in the 19th century (Gibson 1978: 3).
The institutionalisation of people who deviated from a notional norm thus provided new technologies for medicine to govern the body (Foucault 1973:
199; Foucault 1984: 156). Down’s medical work with institutionalised people in the UK was part of this movement. The role of the medical profession in governing the institutionalised body extended beyond Europe into the US with the publication in 1866 of a history of the 'schooling for idiots' movement, in which the author promoted a role for the medical superintendent in research and treatment of the people held in those institutions (Seguin 1971). From clinical work in such institutions, medicine later used the science of genetics to materialise bodies with Down syndrome as a deviation from a chromosomally determined norm for a genetic body.
The definitive role for the karyotype in materialising a genetic body with
Down syndrome has co-produced the disciplinary power of cytogenetics49 that is today shared with other laboratory diagnostic disciplines of molecular genetics and biochemistry (as well as the clinical discipline of ultrasound) in the prenatal diagnosis package (ACMG 1993; Ellwood 1995; Patterson and
Epstein 1990; Wald and Cuckle 1987).
The development of a standardised laboratory method of karyotyping for prenatal diagnosis relied firstly on an idea born in the 1940s that the fetus was an independent body subject to the discipline of obstetrics (Armstrong
1994).50 More directly, it relied on the simultaneous reports in 1955 of fetal sex determination methods, described previously in Section 2.3 (Fuchs and
49 Medical geneticists welcomed cytogenetics as a more powerful tool than statistics in genetic counselling (Fuhrmann and Vogel 1976: 61). 50 Casper (1998a) describes the further construction of the fetus as patient since the discipline of obstetrics invented fetal surgery at Columbia University in the US in 1964. Chapter two: regulating reproduction page 86
Riis 1956; Makowski et al. 1956; Serr et al. 1955; Shettles 1956). It further relied on clinical research published soon after that reported a successful amniocentesis technique51 by abdominal puncture in the first trimester, therefore enabling safer abortion earlier in pregnancy (Fuchs 1966). This was also the time for closure of the controversy about the normal number of human chromosomes, using a new method for visualising chromosomes
(Ford and Hamerton 1956; Tjio and Levan 1956: 1).52 On hearing a conference report about the new method for visualising chromosomes, Dr
Jérome Lejeune returned to his workplace in a French hospital to negotiate with colleagues in the disciplines of bacteriology and pathology for access to tools, techniques and skilled workers, and with parents of children with
Down syndrome to access biopsy tissues taken from those children (Hsu
1979: 40). In 1959, he and his co-workers published their landmark paper that reinterpreted Down syndrome as being determined by a chromosomal deviation from the norm (Lejeune, Gautier, and Turpin 1959). 53 Their discovery identified chromosomal abnormality as the cause of medically defined disease for the first time, and strengthened the intersection of the social worlds of medicine and human genetics science by creating medical
51 Amniocentesis had been practised in Western medicine for over one hundred years (eg, to treat excess accumulation of amniotic fluid and to manage Rh factor incompatibility) (Jacobson and Barter 1967: 796; Verp and Gerbie 1981: 1007). 52 Tjio & Levan were plant cytologists who used a new hypotonic solution method made popular amongst scientists in the early 1950s to examine cells from the fetal body. They were hesitant at first to challenge the established dogma that human somatic cells contained 48 chromosomes, instead of 46 as they had found (Hsu 1979: 2). 53 Although a chromosomal abnormality in Down syndrome had been suggested earlier in the 1930s, Lejeune has been depicted as pitching an heroic struggle against uninterested doctors and scientists to convince them and, indeed, himself about his results (Hsu 1979: 40). Ironically, in 1970 the medical scientist who had been made famous for materialising the genetic body with Down syndrome expressed discomfort that his discovery had become a ‘eugenic’ tool for abortion (Lejeune 1970). At a conference soon after, he described his active public role in a TV debate on amniocentesis in France, after which he received a letter from a girl with Down syndrome who had praised his anti-abortion stance by saying ‘I like you because you love the Mongol’ (Hilton, Callahan, Harris, Condliffe, and Berkley 1973: 213). Chapter two: regulating reproduction page 87 cytogenetics as a new field of medicine (Hsu 1979: 38). The standardised package of prenatal diagnosis finally was constructed with the successful development in 1966 of a standardised laboratory method that enabled culturing and karyotyping of fetal tissue after amniocentesis (Steele and Breg
1966). Laboratory methods for producing a karyotype were standardised in the 1970s, and revised after CVS was introduced in the 1980s (Hsu 1979;
1992; and Hsu and Benn 1981). However, my observations of some cytogenetics clinical meetings challenged the certainties promised by standardised methods incorporated into the prenatal diagnosis package. At the local level, experts regularly negotiated uncertainties in meaning of karyotypes produced in the daily work practices of the hospital laboratory.54
Singleton (1998) has described ‘instabilities’ in the laboratory work for cervical screening programs, which actors from different social worlds recognise but nevertheless negotiate meanings that will stabilise the public meaning of the program. Thus, for Singleton, the instabilities are not uncertainties because they do not threaten the practice of the program overall
(Singleton 1998: 100). Similarly, experts in science and medicine recognise amongst themselves the heterogeneous identities of a particular fetus, and negotiate a stable identity for a public meaning of the karyotype and, thus, stability of the prenatal diagnosis standardised package itself.
As described in Chapter 1, there are different meanings of bodies with
Down syndrome within and outside the arena of medical genetics. This
54 Much of their work involved tacit knowledge that could only be learned at the bench. For example, at one cytogenetics meeting, a laboratory technician was visiting from overseas to learn their techniques. At each of three meetings I attended, there were uncertainties in identifying chromosomal abnormalities. Negotiations involved examining karyotype images, and the laboratory workers exchanging their interpretations and past experiences with each other and with geneticists and genetic counsellors (GC4/7Diary4/5/94, 6/4/94, 13/4/94). Chapter two: regulating reproduction page 88 subsection has described how medicine uses the karyotype as the standard diagnostic tool for defining and measuring a genetic body in terms of the presence or absence of Down syndrome. It contributes to a role for the standardised package of prenatal diagnosis of adapting a diagnosis to local meanings and yet still produces and maintains a genetic body. Medicine has less certainty in its ability to make a diagnosis and prognosis by other means, such as from clinical observations. For example, the epicanthal fold and eyes slanting downwards towards the outer edge, a protruding tongue, small ears, short fingers, an incurving fifth finger, a simian crease in the palm, and
‘floppiness’ at birth can all be found in ‘normal’ children (Hecht 1987: 26).
The diagnostic uncertainties associated with other indirect tests of chromosomal abnormality, such as ultrasound and biochemistry, are described in Chapters 4 and 5.
2.5.2 Prognostic uncertainties
Medicine can provide quite gloomy prognoses for constructing a body with
Down syndrome as the part of the self to be governed in an ethics of reproductive choice. The following quite widely accepted description is given in a respected UK medical genetics textbook:
Mental retardation is the most serious complication. The IQ is usually less than 50, and if not mosaicism should be suspected. Congenital heart malformations, especially endocardial cushion defects, are present in 40%, and duodenal atresia may occur. … When serious cardiac malformations are present, death during infancy is common, but otherwise life expectancy is little reduced. Trisomy 21 accounts for about one-quarter of all moderate and severe mental handicap in children of school age. Most will walk and develop simple language. Puberty is often delayed and incomplete with adult heights about 150 cm. Presenile dementia commonly supervenes after 40 years of age (Connor and Ferguson- Smith 1991: 134). Chapter two: regulating reproduction page 89
At the other end of the prognostic spectrum can be found more positive
interpretations by mothers of children with Down syndrome (Cooley,
Graham, Moeschler, and Graham 1990: 1114). They also can be found
elsewhere,55 although not commonly in medical genetics texts. An example is
shown in the following description by an Australian developmental
paediatrician in his guide for parents of children with Down syndrome. The
prognosis here constructs a more complex, and possibly more hopeful,
maternal body. It locates it within a future social body whose members have
different complementary abilities:
There have been enormous changes for people with Down syndrome over the past two decades. Children with the syndrome now usually live at home and enjoy the love and stimulation they receive from their families. They benefit from early teaching and special help through the school years. Included in everyday activities, they are socially more competent, and their needs for recreation and friendship are increasingly being catered for. With improved health care, they are living healthier lives. For adults, vocational training and employment prospects are increasing, as are opportunities for supervised living in the community. There has also been an expansion in community support services providing help to parents. There is no doubt that parents can now look forward to a brighter future for their child than ever before (Selikowitz 1992: vi).
Within the genetic counselling clinic, I observed most prognoses (if they were given) followed the former, rather than latter, example.56 Although it is standard practice for health professionals to not voice their opinions when giving genetic counselling, their professional performances within medical genetics discourse immerse them deeply in social relations that problematise
55 For example, health professionals’ claims about the severity of intellectual disability caused by Down syndrome changed significantly. Up to the early 20th century they were claimed to be profoundly retarded, but by the mid-1970s these claims had significantly changed to estimate up to 50 percent of older children and adults with Down syndrome had only mild intellectual disability, with some even coming within a normal range (Borthwick 1994: 110-111). 56 See Clarke (1991c) in the discussion on disability activist critiques later in this section. Chapter two: regulating reproduction page 90 people with Down syndrome. For example, a US study found that almost half the female genetic counsellors who participated in it would abort their own fetus if it were diagnosed with Down syndrome, compared with only 29 percent of nurses and 9 percent of women who were mothers of children with
Down syndrome (Cooley et al. 1990: 1114). A doctor in this study acknowledged this when she told me others like her 'know all the horror stories ... and so you tend to get a skewed perspective.' She confessed to having prenatal testing for her first pregnancy at thirty-two, an age well below the state-determined minimum of 37 years).57
A genetic counsellor stated in an interview that a medical geneticist with whom she worked provided an extremely negative prognosis for people with
Down syndrome.58 When I observed him in a genetic counselling session, he gave considerable attention to the range of difficulties that could be experienced in raising a child with Down syndrome—for example, their lifetime dependency, problems with mortality and morbidity, as well as lack of institutional care and pressure on families living with a person with Down syndrome. A medical geneticist in the UK justified the practice in terms of governing an autonomous decision-making individual. He stated that genetic counselling 'has to present an accurate picture, even if depressing and disturbing, if the parents are to make a reasoned decision about future children ... (and) is therefore often seen as the "harbinger of woe"' (Emery
1984: 6). However, I argue that ‘accuracy’ constructs problems in prognosis as technical and denies interpretive elements.
57 C30; C30i1: 955-960; 1079-1084. 58 G3; G3i1: 163-166. Chapter two: regulating reproduction page 91
The genetic counsellor in this study, whilst deferring to the medical geneticist’s greater prognostic expertise in the interview, appeared to resolve her different construction of people with Down syndrome by a resistance strategy of avoidance in the clinic. I observed that she omitted to discuss the effects of Down syndrome, except to compare them favourably with the more severe effects of other chromosomal trisomies (she also admitted in an interview to using this strategy for counselling about sex chromosomal abnormalities that she considered were 'minor disorders').59 I observed this strategy of avoidance being used repeatedly by many others—both medically and non-medically trained—when they did genetic counselling about Down syndrome.
Health professionals also practised a strategy of avoidance by not exploring the clients’ prognostic understandings of Down syndrome. In an interview, a genetic counsellor stated that 'most people who come (to the clinic) know what Down syndrome is, or they have a perception of what it is, and they base their decision on whether to have testing on what they understand Down syndrome to be'.60 In my observations of twenty-four genetic counselling sessions given solely for 'advanced maternal age’, (ie, women aged 37 years or more, whom medicine constructed as being at high risk of having a child with Down syndrome) only one-third of women were even asked about what they knew of Down syndrome and then this question was never explored further. Of these eight women, most expressed some
59 G3; G3i4: 263-283. 60 G3; G3i2: 171-172. Chapter two: regulating reproduction page 92 sense of a lack of knowledge about Down syndrome.61 Of the women aged less than 37 years (a total of sixteen), four attended the clinic solely because of anxiety about possible chromosomal abnormalities such as Down syndrome, and yet only one of these was specifically (and briefly) asked about her knowledge of Down syndrome.
A genetic education text produced in Australia at the time fieldwork for this study was done also practised an avoidance strategy. This two-page information sheet gave prominence to scientific descriptions of people with
Down syndrome in terms of chromosomal abnormality and estimates of maternal age-related risk. Prognosis was restricted to three sentences that began by asserting the lack of a ‘cure,’ followed by positive statements about the child developing skills similar to other children, but at a delayed rate, and the possibility of further skills developing (Barlow and O’Reilly 1993: 149-
150).
One possible reason for health professionals avoiding discussion of the meanings of bodies with Down syndrome in genetic counselling before prenatal diagnosis is that they defer it to a later time. They prioritise other information considered more important within the time constraints of the initial genetic counselling session, compared with later genetic counselling for those few people who have the abnormality detected after testing.62
61 Three women also voiced their concerns about whether or not they were 'selfish' in being unable to cope with caring for a child with Down syndrome. In other words, the fetal body with Down syndrome was accepted as the part of the maternal body to be governed, but the clients were expressing ethical struggles over conflicting ways of relating to the self, in which their preferred reason for governing themselves was to care for their own well-being as a responsible individual, rather than to care for their child’s health as a responsible mother. 62 Others have argued that the best time to receive such information is before (as well as during and after) any genetic counselling, through a greater societal awareness and acceptance of disability, both in popular culture and in the training of health professionals (Parens and Asch 1999: S20). Genetics health professionals, in turn, could strengthen such changes in popular culture through their genetic education activities. Chapter two: regulating reproduction page 93
Another is that they believe clients are less willing to imagine their child with a genetic abnormality until after a medical diagnosis (Parens and Asch 1999:
S19).63 A third possible factor is that the dominant model of non-directive genetic counselling leads them to practise a non-judgemental acceptance of clients’ understandings of bodies with Down syndrome and thus to not explore those meanings further.
Popular meanings of Down syndrome have also been limited by the long history of institutionalisation of people with Down syndrome (which has removed them from public gaze) by their low survival rates beyond infancy
(although this is currently changing)64 and, more recently, to their abortion after prenatal diagnosis. This unfamiliarity on the prospective parents' part, coupled with health professionals’ strategy of avoidance in exploring meanings of a body with Down syndrome, would serve to reinforce the diagnostic and prognostic knowledge claims made in the clinic.
2.5.3 Resisting medico-scientific constructions of Down syndrome
Health professionals who do genetic counselling have shown they are willing to negotiate with actors from other social worlds over the meanings of Down syndrome. Three such social groups, who have the potential for resisting
63 In the clinics in this study, in-depth knowledge claims about specific genetic abnormalities were provided after testing had diagnosed them, but these genetic counselling sessions were not observed. The ethical subject for genetic counselling in that case would no longer be a genetic maternal body with the potential for abnormality, but one with a materialised abnormality whose way of relating to the self also could change. For example, the woman might change the way she relates to herself from being an obedient member of her religious organization that forbids abortion, to being a dissenter because her interpretation of the mothering role of avoiding harm to her children included avoiding giving birth to a child with particular chromosomal abnormalities. Moreover, the ethical work in such later genetic counselling would differ in that medico-scientific expertise in abortion techniques was being offered as a means of governing the body, rather than the prenatal testing techniques offered in the previous genetic counselling session. 64 Prognosis regarding life span has changed remarkably—in 1932, for example, Penrose reported a mean survival age of nine years, compared with reports in the early 1970s of 30 and 35 years of age—and this has been attributed to improved medical care and living conditions.(Smith and Berg 1976: 239-241). Chapter two: regulating reproduction page 94 dominant medico-scientific knowledge claims, are disability rights activists, genetic support groups (for Down syndrome, these comprise mainly parents and other support people)65, and feminists.
Disability rights activists have resisted by arguing for their own ethical aim of changing society and its existing discriminatory social attitudes. They argue that a discriminatory social and structural environment disables people who have needs outside the norm (Kaplan 1993: 68; Newell 1999). This argument accepts the materialisation of a genetic body but problematises the normalisation discourse external to the body with Down syndrome. It relies on a way of relating to the self that prioritises an individual’s duty to care for the common good. An example is the challenge to the non-directive model of genetic counselling by Saxton, a feminist disability rights activist with disabilities caused by spina bifida. She has advocated an opposite method that would confront the pregnant woman about her own and society's prejudices against people with disabilities (Saxton 1987: 223).
In the US, disability rights activists, bioethicists and medical genetics health professionals engaged recently in a two-year project to explore ways of regulating genetic testing that could respond to claims by disability rights activists that it is discriminatory. The group constructed a different genetic body as the part of the self to be governed by an ethics of reproductive choice.
Stating that the prenatal diagnosis standardised package provided
65 It should be noted that the term ‘genetic support group’ is one that some groups may not use to identify themselves. For example, a directory of genetic support groups in Australia included cancer support groups, for which only a few forms eg, (breast cancer, cancer of the colon and rectum, melanoma and eye cancer) had been identified as having a genetic component (Barlow and O’Reilly 1993: 15). The directory could therefore act as a tool for expansion of professional boundaries by medical genetics with actors in other intersecting social worlds. Chapter two: regulating reproduction page 95
‘misinformation’ about ‘what life with disability is like for children with disabilities and their families’ (Parens and Asch 1999: S7), they concluded:
if prospective parents comprehend what is possible given a disability, if they carefully ask themselves hard questions about what they want and will appreciate in a future child, then they and any future children they raise have a better chance for fulfilment and for mutual, rewarding family life. And if genetics professionals learn more about what raising disabled children can mean, rethink their approach to parents, and help those parents better imagine what a child’s disability might mean for their family, then some progress will be made in honoring the disability rights movement’s central message that our society must be able to value people and lives of many different sorts.’ (Parens and Asch 1999: S21)
Saxton also has challenged the assumption that the part of the self to be governed is an abnormal fetal body, in contrast to a universalised normal body of its mother. The result of this assumption is an ‘image of a child with
Down syndrome (that) elicits an even more intense assumption of eternal parental burden.’ Saxton’s own views were that she would not abort a fetus diagnosed with any disabling genetic abnormality for the reason that, as a feminist, she would not abort a fetus ‘diagnosed’ as female. From a realist perspective, she has criticised some medical practices as bad science, which leads to health professionals having ‘a distorted picture of disability’ (Saxton
1984: 310; 1987: 221-223). Finger, a feminist and survivor of polio, has described how other feminists, like many women, have a deeply entrenched fear of having a disabled child. To counteract this, she challenged the professional authority of genetic counselling by advocating that any woman whose fetus is diagnosed with Down syndrome should enrich her understandings of it beyond medical constructions by talking to disabled Chapter two: regulating reproduction page 96 people and their parents (Finger 1984: 288 & 289). 66 As described above, however, this has become an accepted practice after diagnosis of Down syndrome in the fetus by many health professionals who do genetic counselling, although they are still able to exert their disciplinary power through making referrals to individuals and groups that support particular medico-scientific constructions of Down syndrome.
In Australia, a recent symposium on genetic technoscience and social change included a disability activist and medical ethicist who used arguments similar to those already described for disability activists, based on the social construction of health and disability (Newell 1999). Some of the health professionals in this study expressed an interest in the views of a clinical geneticist in the UK (Clarke 1991c) that they found controversial. Published at the time that fieldwork was being carried out, his views were a response to criticisms from disability activists. Clarke exhorted his colleagues to change their work practices, in order to reassess their understandings of fetal abnormality (ie, to produce different prognostic constructions of the body to be governed by an ethics of reproductive choice). For example, his suggestion that they should include the long-term care of people with genetic abnormalities, such as Down syndrome, within their work practices is supported by the example given earlier of a more optimistic prognosis of
Down syndrome given by a pediatrician who works with them and their families. He also urged health professionals to reject the traditional medically defined ethical aim of the achievement of a healthy body in terms of a child
66 Disability activists can hold different views on abortion. Finger has been a feminist activist for reproductive rights and thus strongly supported abortion as a woman’s right (Finger 1984: 281). On the other hand, a male Australian activist has used the anti-feminist notion of fetal ‘personhood’ in his anti-abortion position (Newell 1994: 94). Chapter two: regulating reproduction page 97 without a particular genetic abnormality. He equated this with the long-held and ‘eugenic’ aim of ‘prevention’ (ie, abortion) of any genetically abnormal fetus. In its place, he recommended the alternative aim of ‘offering reproductive choices’ (Clarke 1991c).
For genetic support groups, resistance to medical constructions of bodies with Down syndrome has been less apparent. O’Reilly (1995) has identified the subjectivity of knowledge claims as a problem for both medical experts and genetic support groups.67 She constructed health professionals as experts who sometimes practised bad medicine by giving ‘incorrect facts’, such as an 'unrealistically pessimistic' prognosis for a child with Down syndrome. She also criticised genetic support groups in not being able to give
‘unbiased information’, such as to those considering aborting a fetus diagnosed with a genetic abnormality, because of their advocacy role on behalf of those with a genetic abnormality (O’Reilly 1995: 241). Her language supported a standard medical model that constructs medicine as a science able to provide objective ‘facts’, compared with subjective ‘information’ produced by genetic support groups. At the same time, however, she challenged the medical profession’s monopoly over legitimate knowledge and the boundaries that exclude the expertise of others’ subjective knowledges.
Thus she argued for a more inclusive process in the ethical work of materialising the genetic maternal body to be governed. In contrast, she maintained protected professional expertise in governing the ethical aims of reproductive choice: the health professional—not the genetic support
67 The author was a professional working in genetics education but also an active member of a genetic support group (after giving birth to two children with a terminal genetic abnormality) and had worked diligently in helping to establish and support a national association. Chapter two: regulating reproduction page 98 group—could best help the individual to either practise rational autonomy or produce a baby with a healthy (normal) body. Similarly, recent research in the US on the concerns of consumers of medical genetics services68 found that their highest priority was ‘respect for persons’ (this would include valuing the expertise of consumers, as above), followed by ‘accuracy of information’ ‘avoiding facile judgements of prognosis’ (6th in priority) and
‘team approach is best, with the consumer as an equal member of the team’
(10th in priority) (Wertz and Gregg 2000: 3). Such examples show how members of genetic support groups and individual consumers of medical genetics services practise an ethics that is willing to challenge part of the role of medicine in the government of a genetic body. However, their politics appears more conservative than disability activists, and their challenges are largely restricted to prognostic claims governing the parts of the maternal body to be governed. They have been less active in challenging medicine’s general monopoly over legitimate knowledge. Even their participation in a
‘team approach’ is limited to a division of labour and other knowledge building and health-related activities that occur largely within spaces controlled by medicine.
Feminist resistances to normalisation discourses about a genetic maternal body have been highly visible. Chapter 1 described examples of feminist concerns about prenatal diagnosis, in which an early primary feminist criticism was of its use for sex selection as a discriminatory act
68 Members of support groups were excluded—only ‘rank-and-file’ consumers’ were sought—because the researchers believed that members of such groups would be overly influenced by the critical opinions of genetic discrimination and disabilities rights activists (Wertz and Gregg 2000: 1). They therefore missed an opportunity to describe the diversity of consumer concerns, including those that most strongly challenge professional power in the government of the body. Chapter two: regulating reproduction page 99 against women. These concerns have been shared by others in the intersecting sub-worlds of prenatal diagnosis, who have rejected an ethics based on the aim of having a baby with a particular sexed body. An early feminist challenge to medical constructions of people with Down syndrome came from Finger, who asked:
Are women who are told they are carrying a Down Syndrome fetus told that, due to deinstitutionalization and better education methods, some people with Down Syndrome now go to school in regular classrooms, live in their own apartments and hold jobs? Are they told that 95 percent of Down Syndrome people have moderate to mild retardation? (Finger 1984: 288)
Ironically, she has been criticised for being not ‘realistic’ because she treated disabilities ‘as if they are all the same’ (Wertz and Fletcher 1993a: 175). At that time, her views were not widely held amongst feminists. For example, in the same collection of feminist critiques of new reproductive technologies other feminists stated that ‘obviously’ chromosomal abnormalities such as
Down syndrome ‘are important indications’ for abortion (Holland and
McKenna 1984). Rothman (1984) soon provided a richer feminist understanding of the range of women’s constructions of bodies with Down syndrome in their ethics of reproductive choice. For example, she described how ‘Valerie’ had no doubts that an adult with Down syndrome was
‘grotesque’ and that ‘a rational society would use this technological advance
(amniocentesis) to prevent retardation’. In contrast, she described how
‘Anna’ had significant doubts about the ethics of amniocentesis at the time of genetic counselling, asking ‘what’s so terrible?’ about people with Down syndrome and stating that their abortion had ‘a moral stink to it that sickens me.’ Nevertheless Anna later had an abortion after Down syndrome was identified (Rothman 1984: 57-58 & 60-62). Rothman concluded that the lives Chapter two: regulating reproduction page 100 of children, women and the disabled are devalued in societies where these new technologies are offered and that, because a child's needs are assumed to require the mother to relinquish her own needs, society uses these technologies to ask moral questions of the woman about 'what kind of child they choose to mother'. For Rothman, therefore, an ethics of reproductive choice should be based on a way of relating to the self in which the mothering role gives equal value to the well-being of both the woman and her child.
Rapp (1984a; 1984b) has publicly described her own ethics of reproductive choice that she constructed with her partner in deciding to abort a fetus diagnosed with Down syndrome. She has further explored the contradictions and complexities in her professional research on cultural differences in meanings of bodies with Down syndrome. Her following description elaborates a personal ethics based on a way of relating to the self in which she and her partner maintained their role as political activists for social change:
For us, the diagnosis of Down syndrome was reason to choose abortion ... the realities of raising a child who could never grow to independence would call forth more than we could muster, unless one or both of us gave up our work, our political commitments, our social existence beyond the household. And despite a shared commitment to coparenting, we both understood that in this society, that one was likely to be the mother ... I knew that in such a situation, I would transform myself to become the kind of 24- hour-a-day advocate such a child would require ... But other stark realities confronted us: to keep a Down syndrome child alive through potentially lethal health problems is an act of love with weighty consequences. As we ourselves age, to whom would we leave the person XYLO would become? ... we couldn’t choose to raise a child who would become a ward of the state. The health care, schools, various therapies that Down syndrome children require are inadequately available, and horrendously expensive in America; no single family should have to shoulder all the burdens that a decent health and social policy may someday extend to physically and mentally disabled people. In the meantime, while Chapter two: regulating reproduction page 101
struggling for such a society, we did not choose to bring a child into this world who could never grow up to care for himself (Rapp 1984b: 98).
Wertz and Fletcher’s extensive surveys of actors in the arena of medical genetics69 have included significant attention to various feminist concerns about genetic counselling and prenatal diagnosis (Fletcher 1980; Wertz 1992,
1993a, 1993b; Wertz and Fletcher 1988a, 1989a, 1989b, 1992, 1993a,
1993b,1993c, 1993d, 1993e, 1998). Publication of many of their ideas in medical genetics texts and journals shows their wide acceptance amongst the professionals that they studied. 70 Conceding to ‘some feminist objections’, they nevertheless have shared dominant medical constructions of the genetic maternal body. For example, they have used Down syndrome as an example of ‘severe’ mental retardation that is equal in severity to the effects of trisomies in chromosomes 18 and 13 (both of the latter prevent life beyond infancy). All three abnormalities were understood to be satisfactory explanations for the high rate of abortion of fetuses diagnosed with them: studies have found 100 percent of women in Switzerland had aborted after diagnosis, and 94 percent in the US overall (Wertz and Fletcher 1993a: 180-
181).
In this section I have described how the funnelling process materialises and problematises Down syndrome as an abnormality of a genetic maternal body. This abnormality is one of a class of chromosomal abnormalities can be
69 For example, see Section 2.4 and the sub-section of chromosomal difference. 70 Wertz and Fletcher have reported their findings widely to those in the medical genetics arena individually, jointly, and with others, in journals such as American Journal of Human Genetics (Wertz and Fletcher 1988a), American Journal of Medical Genetics (Wertz, Sorenson, and Heeren 1984; Wertz and Fletcher 1988b), Clinical Genetics (Wertz and Fletcher 1993d), Prenatal Diagnosis (Wertz and Fletcher 1989a), and Clinical Obstetrics and Gynecology (Wertz 1993a; Wertz and Fletcher 1993b), and in books by authors in the UK (Fletcher and Wertz 1992), and the US (Fletcher 1979a, 1979b; Fletcher and Wertz 1992b). Chapter two: regulating reproduction page 102 identified, described and thus controlled by prenatal diagnosis technoscience as a tool of ethical reproductive choice. I have described Western medicine’s role in governing such bodies since the institutionalisation of people with
Down syndrome in early 19th century Europe. Technoscientific developments in the mid-20th century created conditions for a shift in the government of people with Down syndrome, from populations located in institutions under medical supervision (ie, populations concentrated in space) to individual parents making reproductive choices in medical clinics (ie, reproductive populations through time). I have described and contrasted diagnostic and prognostic tools in terms of certainties about knowledge claims. The certainty of the karyotype contributes to a stronger materialisation of a genetic fetal body as the part of the maternal body to be governed, despite the uncertainties I describe in claims about the future development of the fetus after birth. I have also given examples of resistances (by those who do genetic counselling and others, and within and outside the social world of prenatal diagnosis) to dominant medico-scientific constructions of bodies with Down syndrome. These social relations construct conflicting fetal bodies to be governed, ethical aims for the future parents other than genetic termination, and moral obligations of a parent to care for the child in tension with that of the citizen’s duty to care for the common good. The next section describes the negotiation of an origins story that locates the cause of the fetal abnormality in the mother’s body, thereby strengthening the materialisation and normalisation of a genetic maternal body. Chapter two: regulating reproduction page 103
2.6 Claiming maternal origins of chromosomal abnormality
Client: The reason why I’m here is because I’ll be thirty-seven on the birth. Genetic counsellor: Right. Sure. And that’s something that you’re concerned about? Client: Well, I don’t know whether I should be or not. (37-year old woman who is 9 weeks’ pregnant with her first child receiving genetic counselling from a non-medically trained genetic counsellor.)71
The above quote from an observed genetic counselling clinic offers an example of how a woman's aim to have a healthy baby can be governed by the authority of medicine in the funnelling process that materialises a genetic body. This section describes how medicine offers genetic counselling as a technology of the self for women to translate expert constructions of a normalised genetic body into an ethics of reproductive choice. 72
In observed genetic counselling clinics for women aged 37 years or more, about 20 percent of the clients raised their concerns about babies with
Down syndrome and other developmental disabilities before the health professional was able to initiate discussion. This most likely reflected the diffusion of medico-scientific knowledge claims about these dangers by professional education campaigns, the media and word-of-mouth from others who had considered, or experienced, prenatal diagnosis services (see
71 U8W-G6: 35-39. 72 See the quote in Section 2.1 (p.9) for an example of a woman who resisted this particular claim about the ageing maternal body (U17W; U17W-C32: 215-216, 494, 556, 560). Chapter two: regulating reproduction page 104
Section 2.1.3).73 Maternal age has been continuously put forward as a medico-scientific explanation for Down syndrome74 since at least the mid-
19th century, although Down speculated that parental TB was the cause.75
Maternal age continued to be suggested in the early 20th century
(Shuttleworth 1909), but it was in 1933 that the medical world was ready to establish this as fact. In that year Jenkins (1933) in the US, published a review of international research. Applying simple population statistics methods, he argued that the distribution curve for babies diagnosed with
Down syndrome from birth was skewed towards older maternal ages. In the same year in the UK, Penrose (1933) reported on his own research in a large institution for people with intellectual and other disorders.76 Similarly he found maternal, not paternal, age was an aetiological factor in Down
73 Another issue of equal major concern to the clients was the effects of alcohol or other drugs on the fetus. One medical geneticist also consistently raised this issue during genetic counselling, in order to allay what she considered were often excessive fears about the effects of alcohol on the fetus. However, women also expressed concerns about the inheritance of the behaviour of drinking alcohol excessively from other family members, and concerns about their own drinking on the fetus may also have contained unexpressed fears about their own lack of control over alcohol and the risk of passing this behaviour on to their child. Health professionals doing genetic counselling generally paid attention only to parental drinking, questioning their daily intake and then offering most of them reassurance that this risk of fetal harm was negligible. Their medical authority on risk assessment of such other concerns served to continue to funnel attention on to the ageing maternal body as the part of the self requiring ethical work. 74 A long-standing popular theory that became incorporated into medicine in 16th and 17th century Europe (and one which still recurs today in 'folk myth') has located the cause of fetal abnormality in the maternal imagination. According to Huet (Huet 1993: 3-6 /d) the belief in the primary role of the maternal imagination was challenged by 19th century medicine using a new science of monsters. Teratology now located the primary role in the scientist—as father who speaks for Nature. This was a transformation that replaced art, external resemblances and disorder with scientific explanations of internal bodily functions at a cellular level governed by natural laws (and, it could be argued, to later include the materialisation of a genetic reproductive body). Similarly, Romantic artists in the 19th century re-claimed the imagination, investing it in the father with greater power for creating art in his own image (eg Mary Shelley's Frankenstein). See also Braidotti (1996). 75 TB was a life-threatening problem for institutionalised people with Down syndrome. Forty years after Down's published work, it was noted that at Earlswood—the institution where Down had been Medical Superintendent—nearly all inmates with Down syndrome died of TB before the age of 20 years (Thiede, Creasman, and Metcalfe 1966: 665). 76 Penrose reportedly gained pleasure working with people with Down syndrome—especially children—because of what he described as ‘their secret source of joy’ (Kevles 1985: 161). Chapter two: regulating reproduction page 105 syndrome (Penrose 1933: 219). However, it is Penrose's (rather than
Jenkins’) work that has become firmly fixed in the historical imagination of those working in medical genetics and prenatal diagnosis, as Penrose later carved a prestigious career in the new arena of medical genetics.77 At the time this study was carried out, there was international agreement amongst scientific and medical professionals that increased maternal age is the major cause of increased chromosome abnormalities in the fetus (Ferguson-Smith
1983: 355). However, there has been much less consensus on how the maternal age effect originates. Most theories have sought a cause in the natural ageing process of the body. Although environmental factors are still sometimes raised, they tend to be forgotten in most texts (which mention only maternal age). This pattern also was observed in the genetic counselling sessions in this study.
The health professionals whom I observed in my study articulated
Penrose’s work and more recent empirically derived larger-scale population studies through a risk discourse about the ageing maternal body (see Figure
77 The historic roots in Penrose’s work can be traced back to 19th century Darwinism. The institution in which Penrose did his pioneering research on the maternal effects of Down syndrome had been previously owned by Charles Darwin’s son, Sir Horace Darwin, and was administered by the Darwin Trust to foster research into 'mental defect, disease, or disorder'. In 1930, funds were established from the Trust, the institution that employed him and the British Medical Research Council for a medical investigator to investigate and classify 'mental defect' by studying the institution’s population and Penrose began his career in genetics in that position (at the age of 32 (Kevles 1985: 148-163; Ludmerer 1972: 160). He invested considerable energy in searching for what he believed were complex genetic and environmental factors causing Down syndrome, in a long and distinguished career in human genetics. After WWII he succeeded R A Fisher as Head of the Galton Laboratory (later the Department of Medical Genetics) in London and held the position of Galton Professor for the next 20 years, where he set about trying to undo the eugenic links of that institution and position (Smith and Berg 1976: 70, 150, 162, 343). It has been pointed out that Penrose used mathematical models and research by German eugenicists (Weindling 1993: 645). Penrose, himself, stated his belief in the ‘progress of discovery in human genetics’ which could positively contribute to eugenic ‘control (of) man’s hereditary constitution’. He ascribed to the view that eugenics science could be freed of social contaminants and that a major barrier to achieving this goal was the ‘misuse of such knowledge on a large scale by unscrupulous politicians' (Penrose 1960: 127 & 645). Chapter two: regulating reproduction page 106
5) (Barlow and O'Reilly 1991: 15).78. In the early days of amniocentesis, graphical representations of these risks grouped data on maternal age by five- year age intervals to show a sharp increase in risk at about 35 years (see
Figure 6) (Collman and Stoller 1962).79 The graphs were used to justify setting a minimum maternal age limit of 35 years for access to prenatal diagnosis services (Kupperman, Nease, and Washington 1999: 160”).80
However, larger population studies done after the introduction of amniocentesis were used to declare the 35-year maternal age discontinuity an artefact by in the late 1970s. By graphing annual, rather than quinquennial, increments of maternal age, a smooth and rapidly increasing curve from a maternal age of about 30 years was substituted (see Figure 7). The new risk discourse thus provided opportunities for increased government of larger populations of maternal bodies, through those who argued for increased access to prenatal testing by younger women (Hook and Chambers 1977;
Hook and Cross 1982a; Hook and Lindsjo 1978). This is discussed further in
Chapter 5.
It was also in the late 1970s that a major challenge arose to the hegemony of the maternal origins theory when a number of research groups claimed a significant paternal origin for the extra chromosome 21 in as many as one-third of fetuses with Down syndrome. The controversy began after
Danish researchers used new cytogenetic staining techniques that visualised
78 Note that the risks given are for a ‘live-born baby,’ and that these are lower than for chromosomal abnormalities detected at amniocentesis because of the risk of miscarriage during pregnancy. Others who provide genetic counselling have used higher risk estimates (eg, in the early 1980s a risk for Down syndrome of 1:256 at amniocentesis for a woman aged 35 years was used by a UK centre, compared with the figure of 1:384 for a live-born baby that would have been given in genetic counselling observed in this study) (Ferguson-Smith 1983: 356). 79 These were probably based on graphical representation of similar risks published much earlier, such as in Jenkins (1933). 80 See also Chapter 5, Section 5.2.2. Chapter two: regulating reproduction page 107
Figure 5: Table used in observed genetic counselling clinics to represent claims about the ageing maternal body becoming increasingly dangerous with respect to chromosomal abnormality in the fetus (Barlow & O’Reilly 1991: 15). Chapter two: regulating reproduction page 108
Figure 6: Example of early representation of the risk of a person having Down syndrome according to the mother’s age in 5-year age groups (data collected in Victoria, Australia from 1942 to 1957). Note the significant increase in risk shown for maternal ages from 35 to 39 years (Collman & Stoller 1962: 825) Chapter two: regulating reproduction page 109
Figure 7: Example of revised representation of the risk of a person having Down syndrome according to the mother’s age in 1- year age increments. Note the risk appears to significantly increase soon after 30 years (Hook & Lindsjö 1978: 21) Chapter two: regulating reproduction page 110 paternal origins for up to one-quarter of chromosomes in a small sample of people with Down syndrome and claimed to have demonstrated paternal age effects, especially for ages of 55 years and more (Hansson and Mikkelsen
1978; Stene, Fischer, Stene, Mikkelsen, and Petersen 1977). They provided statistical analyses of populations in Denmark to further claim a significant role for a paternal origin in up to one-third of all people with Down syndrome
(Stene and Stene 1977; Stene et al. 1977). They succeeded in enrolling
American, German and Japanese researchers to investigate their claims further (Erickson 1978; Matsunaga, Tonomura, Oishi, and Kikuchi 1978;
Stene, Stene, Stengel-Rutkowski, and Murken 1981). However, the
American—an epidemiologist working in the powerful Center for Disease
Control of the US Department of Health—shortly afterwards cast doubt on their claims. Using US data and a statistical method that examined the data for single years of maternal age, he argued that the Danish result was a statistical artefact caused by grouping maternal age data by 5-yearly intervals. He resolved ambiguities in his own data81 by concluding that ‘the possibility of a paternal-age effect remains open, but the available data suggest that, if it exists, it is quite small’ (Erickson 1979: 489).
Closure of the controversy was effected by larger-scale studies in the US and Europe. The leading actor in the struggle to retain the maternal origins story for Down syndrome was Ernest Hook, a medically trained epidemiologist in the New York State Department of Health. With professional links to academic medicine, his earlier research on statistical
81 One set of his data showed there were 3 babies born with Down syndrome to women aged 34 years or less when the father was aged 50 years or more, when the statistically expected rate was less than 1. On the other hand, women aged 35 years or more when the father was aged 50 years or more gave birth to 4 babies with Down syndrome, compared with an expected rate of 5.5. Chapter two: regulating reproduction page 111 estimates of maternal age effects had established his expertise in this area and fuelled his interest in the ‘questions’ raised about paternal age effects
(Hook and Lindsjo 1978: 26). He turned to New York and Canadian data to repeat his earlier criticisms of using 5-yearly intervals that produced statistical ‘artefacts’ (Hook and Cross 1982a: 138-139; Lamson, Cross, Hook, and Regal 1980; Lamson and Hook 1981). Following the Danish researchers’ publication of further claims about significant paternal age effects from studies on fetal samples taken at amniocentesis, Hook asserted that there was
‘no evidence for a paternal age effect.’ Any weak paternal age effect in some data could be due to chance (Hook and Cross 1982b: 167) or to a statistical bias in the way that all data relies on age estimates that are not exact (Hook and Cross 1983), and did not support the attention given to the original claims (Hook 1985: 126). When Stene and his colleagues continued to publish their controversial claims (Stene, Stene, and Stengel-Rutkowski S 1987; Stene and Stene 1989) Hook and his colleagues brought the controversy to a closure by describing how the Danish claims were ‘erroneous on factual, statistical, and logical grounds’ (Hook, Cross, and Regal 1990: 387). The authority of
Hook’s claims was supported by European research, led in the early 1980s by
Ferguson-Smith, a clinical geneticist who headed a major university medical genetics unit (at the University of Glasgow) and who was editor of Prenatal
Diagnosis, a new but influential journal (Ferguson-Smith 1983: 357-358;
Ferguson-Smith and Yates 1984).
In consultations observed in this study there was no mention of
paternal age effects (this included its absence from the information booklet)
(Barlow and O'Reilly 1991), nor was it considered important in interviews,
thus confirming closure of the controversy. It had been initiated by new Chapter two: regulating reproduction page 112
techniques for visualisation of chromosomes but debate had centred on
knowledge claims about statistical method. Actors worked effectively across a
range of intersecting social worlds in the arena of medical genetics (clinical
genetics, cytogenetics, and public health) to retain the dominant model of
‘advanced maternal age’ as the major determinant of chromosomal
abnormality.
Medical science has continued to search for origins stories to explain the maternal age effect. From Down's evolutionary model (influenced by
Darwinian theory) of a reversion to an earlier racial type, up to the present they have included: evolutionary regression to the orang-utan; age of the maternal grandmother; a faulty gene in the egg cell; fetal glandular abnormalities; reproductive exhaustion (with the last-born of large families); reproductive atrophy (due to a long gap between births), maternal emotional stress; contraceptives and spermicides; curettage; faulty implantation; degeneration of the ovum; small amniotic sac; uterine selection; parental tuberculosis, syphilis, hepatitis and other infections; maternal glandular deficiency or overactivity; parental autoimmune processes; maternal cigarette smoking; parental ingestion of caffeine; parental alcoholism; familial epilepsy; irradiation; and unknown seasonal factors in the environment (Jongbloet and Vrieze 1985; Juberg 1983; Merton 1968;
Milstein-Moscati and Becak 1981; Smith and Berg 1976; Videbech and
Nielsen 1984; Vogel 1983; Warkany 1975).
An influential theory has been the 'production line model' (Henderson and Edwards 1968), based on a metaphor of industrial society (Martin 1987: Chapter two: regulating reproduction page 113
27-53). The researchers who first proposed the theory82 depicted a woman's fertility cycle as a production line of eggs that begins in the ovary before her birth. They proposed that, for the woman later destined to give birth to a child with Down syndrome, an abnormality had occurred in her ovaries during her own fetal development in her mother’s womb. This abnormality depended on the relative position of her eggs on a production line, when a biological control mechanism induced a particular developmental change in chromosomal performance (reduced chiasmata83 formation during meiotic recombination of chromosomal material). They proposed that control of chromosomal performance was less successful for those cells positioned later in the production line. In the process of ovulation, this class of abnormal cells was more likely to be mobilised during a woman's later adult life.
Other competing models have sought causes in later stages of the mother’s life when the egg cell is mobilised during the monthly fertility cycle
(for example, damage by external environmental agents, ‘wear and tear’ over decades, abnormalities in circulating hormones, or a reduced number of
'quality' follicles). Some research has also proposed a possible contribution by a much earlier abnormality, in the grandmother's egg cell before her fetus
(the mother of the affected fetus) was even fertilised (Eichenlaub-Ritter 1996:
222-228). At a recent workshop in the US, which aimed to negotiate consensus on possible risk factors in the environment that could be linked to the maternal age effect, it was concluded that 'the mechanisms for the maternal age effect remained unknown’ (Wyrobek, Aardema, Eichenlaub-
82 One of the authors—R G Edwards—later became famous for developing IVF technologies (Edwards R G and Steptoe 1975). 83 Chiasmata (singular chiasma; from the Greek letter chi—C) are the points where the arms of chromosomes cross over and, thus, can exchange genetic material (Delbridge et al. 1998). Chapter two: regulating reproduction page 114
Ritter, Ferguson, and Marchetti 1996: 255)' and no model explained all existing experimental data (Warburton and Kinney 1996: 244). Participants identified at least ten different possible mechanisms for producing known trisomies (only four of which were associated with advanced maternal age)
(Jacobs and Hassold 1995: 123-125). However, they agreed that maternal age was the 'only well documented risk factor' in human trisomies (Nicolaidis and
Petersen 1998: 313).
My observations of clinical discourse confirmed that genetic counselling relied on a production line metaphor (ie, a metaphor of the body based on industrial production), rather than the specific ‘production line model’ described by Henderson & Edwards in 1968.84 That metaphor was used to describe the cause as one of 'wear and tear'—ie, product degeneration—during the years before mobilisation in the fertility cycle, rather than one of abnormal quality control. For example:
All of your eggs you make before you're born. You're not making any in your lifetime. And as you're getting older, so are your eggs. ... whereas for (your partner)'s sperm it's different. Because every three months he's making new sperm.85
The eggs that we use to make babies were made when we were in our mummy's tummy. So, the eggs that you're using to make this baby were made about forty-two years ago. That's when they started to divide and they've been, sort of, hanging around in suspended animation. ... the eggs that have been hanging around for a while probably don't get as good at division as they should have if they were doing it twenty years ago. ... And even though you don't feel it, your egg cells have been around long enough to make mistakes.86
84 A proceduralist whom I interviewed supported this model, stating that 'it's the fact that Nature's quality control gets worse, rather than you actually produce more abnormal eggs' (C6; C6i1: 808). 85 C5; U43/W/M-C5/PT: 113, 118. 86 C33; U38W-C33/PT: 56-68, 266. Chapter two: regulating reproduction page 115
This 'wear and tear' model depicts woman’s egg cells as passively degenerating throughout her reproductive lifetime, creating an image of unused old stock mouldering at the back of shop shelves beyond their 'use by' date because of the time that had elapsed since their origins in the production line. In contrast, as shown above, this passive process of decay can be compared with depictions of the production of a man’s sperm cells as a continuous and healthy active process.87
An alternative theory constructed by the feminist Abby Lippman and her colleagues in the early 1980s also used a production line metaphor, but claimed a more active role for the woman's body. Their 'relaxed selection' theory proposed that a quality control mechanism enabled a woman's body to abort an abnormal fertilised egg, and that ageing interfered with this function
(Aymé and Lippman-Hand 1982). However, the theory has fallen into disfavour. Research using new molecular genetic techniques has identified differences in the maternal age effect for maternally-, compared with paternally-, derived Down syndrome in the child (Hassold et al. 1996: 174).88
This contradicted the prediction from relaxed selection theory that the ageing process would act on any abnormal fertilised egg, irrespective of its chromosomal origins. One medical geneticist I interviewed rejected the model on the grounds that it could not explain why women (especially young
87 Nonetheless, research has been done on genetic and, specifically, chromosomal abnormalities in sperm. Recent examples include qualified acceptance of some evidence for deleterious lifestyle effects of smoking and consuming alcohol and other drugs (Fraga et al. 1991; Little and Vainio 1994; Potts, Newbury, Smith, Notarianni, and Jefferies 1999). 88 However, the molecular genetic evidence also strengthened the possibility of effects other than maternal age. Chapter two: regulating reproduction page 116 women) can give birth to 'normal' babies after they have had a baby with
Down syndrome.89
In this section, I have described how health professionals doing genetic counselling use a funnelling process that materialises a genetic maternal body that needs to be governed. Claims about the origins of chromosomal abnormalities (such as Down syndrome) concentrate attention on the fetus as the part of the body to be governed. The focus on a maternal origin for bodies with Down syndrome has continued despite competing evidence against a unitary theory. Negotiated claims about the risk of ‘advanced maternal age’ have naturalised the effects of a woman’s ageing as an intensifying process of breakdown of the genetic body. A dominant metaphor constructs the maternal body mechanistically in terms of an industrial production process open to a technological solution. Thus, the naturalisation of fetal abnormality and the construction of the maternal body as a site of production construct tensions in ways of relating to the self. Possible moral obligations for the woman to participate in making reproductive choices thus can include a role for her as an ethical manager of a faulty production process in her body.
2.7 Chapter summary: Governing abnormal bodies through reproductive time and space
In this chapter I have described how the standardised package of prenatal diagnosis is a tool for governing the reproduction of abnormal bodies. Genetic counselling, as a component of the package, constructs reproduction with respect to a normalised genetic body. Health professionals
89 C33; C33i1: 543. Chapter two: regulating reproduction page 117 draw on heterogeneous sources in science and medicine (such as cytogenetics and other genetic sciences, clinical genetics and epidemiology) to construct a funnelling process in genetic counselling that concentrates attention on a chromosomally abnormal fetus as the part of the maternal body to be governed. The problematisation of chromosomal anomaly in the clinic is effective in that the majority of women who then use prenatal diagnosis abort a fetus diagnosed with Down syndrome.90 Whilst abortion for this reason has not been problematised, sex selection practices have, as many have raised concerns about the ethics of this practice. Thus, an individual woman’s choice to abort a fetus with a chromosomal anomaly can confront the tensions between societal and medical judgements about abnormality and dangers to health.
Medicine’s problematisation of people with Down syndrome and other intellectual anomalies was established in the early 19th century, in its institutional regulation of people with intellectual and other disabilities.
Medico-scientific discoveries in the mid-20th century contributed to a standardised package of prenatal diagnosis that changed the way people with
Down syndrome were governed in time and space—not through large institutionalised populations but as individuals before birth, through their parents’ individual reproductive choices facilitated in the medical clinic. The karyotype has been an effective standardised technology for problematising the body with Down syndrome because of the high certainty of its ability to identify the chromosomally abnormal fetus as the part of the self to be governed. In contrast, clinical constructions have been more negotiable,
90 My study does not claim that genetic counselling is the sole determinant of women’s later decisions to have prenatal diagnosis nor to have an abortion. However, I do provide an understanding of how genetic counselling can play a part in such decisions. Chapter two: regulating reproduction page 118 although made more certain when they have become elements within the standard prenatal diagnosis package.
Claims about the maternal origins of chromosomal abnormalities in the fetus further identify the fetus as the part of a genetic body to be governed. A production line metaphor naturalises the ageing process as one of degeneration of its constituent machinery with time. It constructs an ethics of reproductive choice in terms of governing the part of the self that forms a fetal product with the aim of maximising its quality. Prenatal diagnosis is a tool for doing the ethical work of acting as a responsible manager with a duty of care to maintain a healthy production process.
The focus on governing chromosomal abnormality in the fetus is in tension with the identification of a woman’s emotions as another part of the maternal body to be governed. When the concept of genetic termination was added to the standardised package of genetic prenatal diagnosis, it strengthened the role of genetic counselling in governing subjectivity. The role of counselling, rather than medico-scientific genetics, in genetic counselling was favoured. Health professionals have seen an expanding role for genetic counselling in a grieving process following abortion of a fetus with abnormalities, thus strengthening its role through time as a technology of the self for governing parental emotions. However, professionals have not been as successful in promoting other technologies of the self, such as self-help groups, as remedies for the problematised grieving process.
The model of moral obligation used by health professionals who do genetic counselling is an individualised one of parental care for the health of the child and family. The funnelling effect that problematises chromosomal anomaly in the fetus as the part of the self to be governed constructs the birth Chapter two: regulating reproduction page 119 of a healthy child as the primary aim of an ethics of reproductive choice. The health of the family is contingent on governing the fetal body. However, this can be extended to governing the family members’ emotional state, whether grieving soon after the loss of an aborted fetus or adjusting over the long term to living with a new family member with disabilities. For the woman concerned, an added ethical burden is the construction of a mother’s moral obligation to care for the health of her children and family before her own needs. This model of moral obligation is in tension with others based on the ethical aim of changing social relations to end discrimination. Although they may accept medico-scientific constructions of a genetic body, they expand the possible solutions beyond the elimination of the abnormal body. Other possible ways of forming an ethics of reproductive choice include governing the self in self-education about different meanings of Down syndrome and in changing others’ knowledge and practices with the aim of fighting discriminatory social relations.
* * * * * page 120
Chapter Three
Disciplining Reproductive Choice—Genetic Counselling as a Technology of the Self
3.1. Introduction
In the previous chapter I described genetic counselling about prenatal diagnosis in terms of the regulation of reproducing populations. Health professionals use a risk discourse in genetic counselling to construct a funnelling process that problematises chromosomal abnormalities in the fetus and their origins in the woman’s body. It materialises a multiplicity of genetic bodies: the fetus as an object separate from the woman and able to be acted upon; the fetus as part of, and subject to, a maternal body; and the fetus as participant in the genetic constitution of past and future generations.
In this chapter I describe how genetic counselling is a technology that produces greater complexity in the self to be governed. Multiple models of genetic counselling act as norms for genetic counselling practices, constructing new objects of risk discourse—besides a genetic maternal body—and new norms for them. For example, a psychosocial model problematises the emotions and constructs a rational maternal body that uses reason to govern the self and emotions. I describe how genetic counselling acts as a boundary object (Star and Griesemer 1989: 393), which is both a concrete practice and an abstract model that can be flexibly interpreted by health professionals and their clients.
I begin with a preliminary discussion of the discursive role of eugenics in the ethical formation and continuing practices of professionals in the arena of medical genetics. This is followed by a socio-historical account of the invention of ‘non-directive’ genetic counselling as a strategy of professional Chapter three: disciplining reproductive choice page 121 resistance to eugenic ‘monster’ stories about human genetics. I describe other coexisting models to show how genetic counselling is flexibly interpreted heterogeneously. I then describe the disciplining of genetic counselling work from the early formation of human genetics as a discipline, through the formation of the medical genetics arena, to its organization within the prenatal diagnosis package. I conclude by summarising how professional practices and theories construct genetic counselling as a technology of the self for governing an ethics of reproductive decision-making. It offers professionals who do genetic counselling a way to protect their scientific authority, by placing a boundary between themselves and coercive politics. It offers their clients a way to act willingly upon themselves. It thus can enable both professional and client to gain a sense of autonomy and ethical decision- making.
3.2. Eugenics and professional ethics
Galton coined the term ‘eugenics’ (from a Greek root word meaning ‘good in birth’ or ‘noble in heredity’) in 1883, and defined it as ‘the science of improving the (human) stock’ (F Galton cited in Hubbard 1984a: 7). As a science, eugenics appeared to be more exact and reliable than traditional methods for controlling reproduction and health (such as ‘improving’ a family line through marriage). This new science applied an Enlightenment notion of progress to the improvement of the human race, emerging in the late 19th and early 20th century as a set of ‘classifying practices’ that problematised certain populations (Garton 2000:16). When Nazism challenged progressivist rhetoric about eugenics’ benefit to humankind, medicine and science responded with what Kevles (1985: 164-192) has called Chapter three: disciplining reproductive choice page 122 a ‘reform eugenics’ that distanced itself from ‘mainline’ eugenics and enrolled science more strongly into modified eugenic goals. Such a strategy used expulsion of deviants to support professional authority and the truth of knowledge claims.1 In its place rose a new science: human genetics. Those working in this new discipline strengthened its claims to legitimacy by expanding their professional boundaries, and Kevles (1985: 212) has described how these went beyond genetics and mathematical statistics to include other sciences (such as biology, biochemistry, demography, physiology and psychology) and medicine. Individuals working in human genetics set to work to eliminate their eugenic identity, although still espousing eugenic goals. For example, Penrose2 was strongly critical of much of eugenics. He supported its ‘principles’ as being scientifically sound, but open to political abuse (Penrose 1960: 127). He became a respected medical geneticist who played a significant role in strengthening the science of human genetics and its expression in the new discipline of medical genetics. Two of his post-World War II discursive strategies when he later worked at the
1 Contemporary historical research on eugenics includes Kevles’ (1985) exhaustive comparative analysis of the US and UK context, Paul’s (1995) more recent overview, Weindling (1989) on eugenics in Germany, and the comparative work for a number of countries by Adams (1990). Such studies have described the complex networks of power relations that supported and later undermined eugenics movements in the nineteenth to twentieth century. Medical and scientific professionals publicly supported or rejected eugenics, whilst others remained non-committal. The 1980s was a period of renewed interest in eugenics amongst historians of science, attested to by Adams’ (1990) edited cross-cultural collection. A conference held in 1983 to mark the Darwin centennial was followed by similar discussions at two international conferences in 1985 and 1988. In Australia, a small amount of sociohistorical research has been published on eugenics, including Cawte (1986), Garton (1994), Watts (1994) and Wyndham (1996). A recent conference brought together a diversity of scholars to re-examine the history and sociology of eugenics in Australia (Crotty, Germov, and Rodwell 2000). 2 The previous chapter described Penrose’s medical and genetic research in intellectual disability that linked ‘advanced maternal age’ with Down syndrome. Chapter three: disciplining reproductive choice page 123
Galton Laboratory in London was to changed the title of its journal in 1954,3 and to change the name of his professorial chair in 1961, replacing the term
‘eugenics’ with ‘human genetics’ in both cases (Kevles 1985: 252).4 Another discursive strategy against eugenics was the invention of genetic counselling by Reed in the late 1940s, and this is discussed in more detail later (see
Section 3.3).
Those working within human genetics have used the strategy of expulsion to support their professional authority by distancing themselves from those identified as practising eugenics. Paul (1992) has analysed how a fear of eugenics has been an acceptable anxiety about human genetics in the post-World War II period—for both those who approve and disapprove of it—without clarity of what is meant by it. One response to uncertainties over its multiple meanings has been to censor the term ‘eugenics’ altogether, and examples can be found of professions and governments taking such action.5
When it has been used, fears have been mobilised by defining eugenics in
3 The Annals of Eugenics journal’s initial ‘mainline eugenics’ aim, when it was set up in 1926 by Pearson at the Galton laboratory in London, had been to support a ‘scientific study of racial problems.’ In 1930 Fisher altered the journal’s aim to a ‘reform eugenicist’ one of ‘the genetic study of human populations.’ It took Penrose eight years to successfully expunge the term ‘eugenics’ itself (Kevles 1985: 252; Ludmerer 1972: 137). 4 By this time, Penrose had gained significant status as a leader in human and medical genetics. For example, in 1960 he received a prestigious award in medical research shared jointly with James Neel—best known for his genetic research with survivors of the US bombing of Japan in the World War II (Kevles 1985: 210-211, 231, 252; Lindee 1994). 5 The Chinese government deleted the term entirely from its new Law on Maternal and Infant Health Care passed in 1985 (Bobrow 1995), although critics still applied that label. The legislation made compulsory medical testing before marriage, enforced childlessness for abnormalities that medicine and the government considered serious, and prenatal testing and abortion of an abnormal fetus. Ironically, participants at an international genetics conference, which was eventually held in China in 1998 after much controversy in their community (many did not approve of China’s new law), used a similar censorship strategy. They concluded that the term was ‘no longer suitable for use in the scientific literature’ (‘Ethics and Eugenics’ 1998) (see also Chapter five). Western governments have similarly used a censorship strategy. Paul gives by example the Commission of the European Communities’ decision to delete the term from a text about human genome research because of its multiple meanings (Paul 1992: 666). Chapter three: disciplining reproductive choice page 124 terms of the following three binaries—coercive/voluntary, intentions/effects, and social/ individual (Paul 1992: 668).
In contrast to criticisms of eugenics as coercive, Paul has described how early eugenicists promoted voluntary programs, such as educating people to use birth control. She pointed out that the assumptions which construct a boundary between the binary of coercive and voluntary action are based on different definitions of coercion that rely also on the intentions/effects binary. Classical 19th century liberalism and conservatism interpret coercion in terms of (consciously intended) political and legal barriers to action, whilst other liberals and socialists interpret coercion in terms of (unintended effects of) economic and social barriers (Paul 1992: 668-671). I would add that the social/individual binary is also implicated. Criticising eugenics in terms of
‘coercive’ government relies on a construction of freedom as a ‘voluntary’ choice directed by an individual; this constructs choices as being able to be independent of society. Paul (1992: 671-679) also has described how the intentions/effects and social/individual binaries are found together.
Programs with social aims (such as reducing economic or health costs to societies or reproducing populations) can be criticised as eugenic, in order to exclude those with similar effects because they favour the individual, rather than social, good. Paul (1992: 679-683) has concluded that the dominance of individualism in Western democracies, which prioritises personal autonomy over social benefits, avoids conflicts over how to determine benefits by leaving it to ‘the market’ to resolve.
Paul has discussed examples relevant to this project. She pointed out that some definitions of eugenics could easily be applied to the entire medical genetics arena (Paul 1992: 667). Different meanings of coercion can be Chapter three: disciplining reproductive choice page 125 mobilised in ethical debates about prenatal testing, to construct a lack of voluntary choices available to women. Genetic counselling can be judged eugenic for its aim of improving the health of a population, using a binary value system that depends on maximising individual autonomy.6 On the other hand, for those who do genetic counselling, a professional commitment to a non-directive model that relies solely on an autonomous decision- making individual uses a binary that excludes the complexities of social relations (Paul 1992: 671-672). I would add that a psychosocial model of genetic counselling constructs a more complex ethics, but may still prioritise the individual over the social.
Contemporary medical genetics has used a classical liberal notion of coercion (as formal legal rules) to criticise China’s 1995 reproductive law as eugenic.7 On the other hand, Hubbard (1984b) made an early criticism of prenatal diagnosis as the ‘new eugenics,’ using a different notion of coercion in terms of social control of women.8 Hubbard claimed that health professionals practise coercion when they use language that constructs a conflict between the rights of the fetus and the pregnant woman, and then prioritise those of the fetus. 9 She constructed women as individual decision- makers using intent, but prioritised social changes that would provide more
6 Indeed, according to Paul (1992: 672), Kevles’ provocative identification of contemporary medical genetics as the ‘new eugenics’ constructed it as ethical when it prioritises the individual over the social. 7 See footnote 2. Wertz and Fletcher (1993a) and, more recently, Wertz (1999) have used such liberal notions of coercive eugenics to conclude that prenatal diagnosis is not eugenic. 8 Hubbard has argued as both a feminist, and a biologist taking an ethical professional position. 9 A feminist disability activist echoed Hubbard’s critique a decade later, in a submission she wrote, in consultation with a disability rights group, to the Canadian Royal Commission on New Reproductive Technologies in 1992. That submission defined eugenics in terms of ‘thinking’ that aimed to produce ‘perfect babies’ and recommended that such eugenic components of written policies should be ‘identified’ and ‘removed’ (Goundry 1993: 155). Chapter three: disciplining reproductive choice page 126
resources for women to have wider choices (Hubbard 1984b: 28-29).10 Bordo
(1993: 191, 197) has used a feminist interpretation of Foucauldian theory to criticise the coercive/voluntary binary that Hubbard and others have used, in that it constructs a static dichotomy between those who wield power and those who are victim to it. In this project I have similar aims to describe a system of dynamic power relations. Individuals—such as the health professional and the client—can be positioned differently, and notions of the self are not necessarily coerced but produced, through genetic counselling as a technology of the self as well as other techniques, knowledge claims and activities that constitute the standardised package of prenatal diagnosis.
Paul’s critique is useful for my interpretation of Foucauldian biopower and governmentality in an ethics of reproductive choice. Thus, in Chapters two to five I dismantle an individual/social binary by examining the four-fold regulation and discipline of the individual and populations that are articulated through an ethics of reproductive choice.
Medical genetics has long used multiple genetic bodies that challenge the society/individual binary by constructing the client of genetic counselling as both an individual and family.11 The psychosocial model of genetic counselling, in particular, problematises individual rationality and, thus, challenges the dominance of the genetic body as the part of the self to be governed ethically. However, its reliance on individual choice requires the
10 This dilemma for feminist critiques has since been described by Fox-Genovese (cited in Paul 1992: 678). 11 For example, an early definition of the aim of genetic counselling was to be ‘devoted to the welfare of the individual or family seeking advice’ (emphasis added) (WHO 1969: 6). That practice has continued. Later, the first journal dedicated to genetic counselling described clients in terms of ‘the individual or family who has a concern about a genetic risk’ (emphasis added) (Eunpu 1992: 1). Chapter three: disciplining reproductive choice page 127 binary that excludes social effects of personal reproductive choices. The cultural origins of individualistic models of genetic counselling in Western liberal democracies articulate a core value system of individualism, which it invented as an ‘art of government’ (Rose 1996: 2). As a result, freedom has been redefined in terms of an aim of autonomous decision-making individual who is ‘obliged to be free’ by exercising choices (Rose 1996: 99-100).12
Genetic counselling thus provides opportunities to do ethical work on the self that is hard to resist, both for the health professional and the client. Some groups that human genetics describes in terms of genetic bodies and racial difference, and whom eugenic programs have harshly treated, nevertheless have enthusiastically supported some genetic counselling and prenatal diagnosis programs. For example, many Ashkenazi Jewish people from
Eastern Europe have enthusiastically supported screening programs to detect
Tay-Sachs disease.13 One possible reason for their support is that the health professionals mobilised both the social and individual body through genetic education and genetic counselling as techniques for governing an ethics of the self. Genetic education targeted a usually close knit, well-educated and economically independent community (Hubbard and Wald 1993: 33), and offered them individual genetic counselling for making reproductive choices.
12 Liberal individualism’s role in weakening barriers to using prenatal diagnosis for sex selection has already been described in Chapter two (Section 2.4.2). 13 Indeed, Israeli researchers have made significant contributions through the scientific research field of ‘Jewish medical genetics’ (Cohen 1993: 846). The first Tay-Sachs screening program in the US in the early 1970s was successful because of support by religious leaders and the Jewish public (such as volunteer groups of ‘housewives’) as well as doctors and the media (Kaback and Zeiger 1973). Similarly, the success of thalassemia screening programs in Cyprus depended upon the Greek Orthodox archbishop’s requirement in 1984 that any couple wanting to marry in church should have genetic counselling and a test for thalassemia. Since most marriages in Cyprus occurred in a church, access to genetic counselling and screening was virtually made mandatory, overcoming the previous failure to impose a legal requirement for premarital genetic counselling and testing (Modell 1990: 183). Chapter three: disciplining reproductive choice page 128
It would be relatively easy for both health professional and the targeted population to problematise a genetically abnormal body, because medical claims about Tay Sachs could complement individual knowledge of its relatively severe effects amongst those in the community—life is usually limited to only the first few years of life and there is no known cure. As a result of community acceptance, medicine can feel ethically justified in identifying a racialised genetic body to be governed by reproductive choice. I observed this in clinics in this project where the health professionals did not hesitate to ask questions in genetic counselling about a client’s Jewish identity, even when they may have already identified a chromosomal body to be governed because of ‘advanced maternal age’. On the other hand, sickle cell screening programs in the US foundered in the climate of Black rights activism of the 1970s and claims that the National Sickle Cell Anemia Control
Act was a form of eugenic population control (Hubbard and Wald 1993: 314;
Kevles 1985: 278).
At the time of fieldwork for this project, health professionals in the medical genetics arena were continuing to express anxieties about eugenics.
In an interview, a medical geneticist in this study contrasted a model of non- directive genetic counselling used in Australia—‘it’s the general feeling of that’s what ought to happen in genetic counselling’—with European practices of genetic counselling. Describing a German medical geneticist with a reputation for giving advice to people on whether or not to abort a pregnancy,14 he constructed Australian aims as progressive and attainable, in contrast to past notorious eugenic practices in Germany. In another
14 C1i1: 220, 226. Chapter three: disciplining reproductive choice page 129 interview, a proceduralist similarly used Germany’s history of Nazi eugenics to claim a continuity in contemporary German practices of prenatal diagnosis and to contrast them with Australian practices:
(In Germany) it’s almost compulsory to have prenatal diagnosis ... everyone has to carry ID papers, and pregnant women have to carry an antenatal card. You get in a lot of trouble if you’re caught without them. (Interview with a female proceduralist) 15
Thus, she used a liberal notion of coercion to portray Australian controls of access to genetic prenatal diagnosis as benign (voluntary) in contrast to
Germany (coercive)—the historical referent nation for eugenic monster stories.16 In the US at that time medical geneticists warned their colleagues they should practise a professional ethics in which they ‘reflect with great concern on the history of eugenics, so that we do not repeat the pattern’
(Garver and Garver 1991: 1109). Describing their concerns in terms of undesirable regulation by government,17 they used the coercive/voluntary and intentions/effects binaries in a notion of intentional coercion by government, ignoring unintended effects that could mirror the aims of public policy
(Garver and Garver 1991). Their construction of eugenics as coercive
15 C6; GC2/3Diary30/11/93: 10. 16 In the Australian clinics where I carried out research for this project, women were not required by law to carry identification papers and an antenatal card. Nevertheless, most women carried some form of identification with them. Those who attended publicly funded clinics were expected to provide a Medicare card (under the threat of having to pay for the service otherwise—a significant punishment for those on a low income), and were issued with an antenatal card to be used for subsequent visits to the clinic. Booking clerks policed these requirements, and most women complied. Occasionally when a woman was unable to produce these documents during genetic counselling, the health professional did not treat this as a problem. 17 They described three concerns about government’s political misuse of science: past eugenic mistakes of attempts to controls gene frequencies in populations; denial of access to health care services for babies born with abnormalities and for the elderly, due to a resurgence in views that there were ‘lives not worth living’; and audits of medical genetics’ practices that tied its funding to health outcomes, thus requiring an increase in terminations or decrease in birth of babies with a genetic abnormality (Garver and Garver 1991: 1109- 1116). Chapter three: disciplining reproductive choice page 130 intentions of government can be seen as a strategy for protecting the health professional and individualised doctor-patient relationship from political contamination.
One critical response in a later edition of the journal took issue with their ‘revisionist history’ that had redefined some early human genetics as eugenic pseudoscience (Marks 1993b: 651).18 Such a strategy of historical expulsion also can be a way to exclude deviants, in order to maintain an appearance of homogeneity in current belief and practice and, thus, professional authority. Weindling—a respected historian of German eugenics— was another critic (Weindling 1993). He disagreed with the claim that the discipline of human genetics had arisen from an historical rupture with eugenics. Instead, he argued that eugenics was an heterogeneous movement, that eugenics and medical genetics had a long and integrated history, and that there was a continuing potential for eugenic abuses. He used a novel interpretation of the intentions/effects binary to confront the discipline with contradictions between liberalism’s intention to protect the rights of individuals (ie, their clients) and the unintended effects of their own professional interests, in which ‘as funding, research strategies, and clinical procedures become more elaborate, the dangers of abuse also increase’
(Weindling 1993: 643, 649). A more recent example of continuing professional anxiety in a rhetorics of eugenics is found in the following professional statement on prenatal diagnosis. The ASHG (American Society of Human Genetics) continues to use a definition of eugenics that relies on a classical liberal notion of coercion over reproductive choice: Chapter three: disciplining reproductive choice page 131
The American Society of Human Genetics views prenatal screening and diagnostic programs, including those undertaken with the knowledge that an individual who chooses to be tested may seek selective termination of pregnancy, as acceptable so long as individuals are not coerced (ASHG 1998).
Thus eugenics has acted as a ‘monster’ story, for both supporters and detractors of genetic counselling and prenatal diagnosis, to warn about the ethical dangers.19 They do so without consensus on its meaning, mobilising three major binaries used in eugenics’ multiple meanings. For health professionals in the medical genetics arena, eugenic ‘monster’ stories have been embedded in a complex ethics that guides their knowledge and practices, and protects their professional authority. Their ethical strategies have constructed multiple maternal bodies (eg: chromosomal or racialised genetic bodies; the individualised fetus and its mother; social bodies linked by heredity and/or as governed populations), multiple ways of relating to the self (eg: a citizen acting voluntarily within the law; a socially responsible citizen acting to change unjust laws) and multiple aims for governing the self
(eg: behaving as an autonomous individual, or obtaining a healthy population or child).
3.3. Heterogeneous definitions of genetic counselling
The term ‘genetic counseling’ occurred to me as an appropriate description of the process which I thought of as a kind of genetic social work without eugenic connotations (Reed 1974: 335).
18 The author claimed a privileged outsider position in being able to resist eugenic ‘ideology’, as were the social scientists and humanists who criticised eugenics before the mid- 1920s (Marks 1993b: 652). 19 Eugenics is a ‘monster’ story here in that it isa functional fable about good triumphing over evil. Chapter three: disciplining reproductive choice page 132
In the late 1940s in the US Sheldon Reed invented the term ‘genetic counselling’ when he began to work in human genetics. This was soon after the Second World War, when condemnation was widespread of Nazi extermination programs and of eugenics that had been their justifying rationale (Ludmerer 1972: 167; Reed 1980: 3). Trained in mouse and
Drosophila genetics, Reed moved into human genetics in 1947 when he took up a university position that had been established for eugenics twenty years earlier.20 Repeated requests from pediatricians for help with his genetics knowledge brought him into the intersecting social worlds of science and medicine. His adaptation to these new social relations can be seen in Reed’s discursive rupture with the eugenics movement of the past. His new term
‘genetic counselling’ could be a tool for protecting professionals working in medicine and the science of human genetics by distancing them from politics.
For Reed, genetic counselling did not challenge medicine’s monopoly in the clinic. He drew on medicine’s individualised model of doctor-patient relationships (using a individual/social binary) and social work’s model of caring within medicine for the family, to construct genetic counselling as:
a type of social work entirely for the benefit of the whole family without direct concern for its effect upon the state or politics ... Most genetic counseling will not be done as a function of the state, but by the family physician (Reed 1974: 335-336).
20 The Dight Institute, where Reed worked, was funded through an endowment made by an eccentric doctor and eugenicist (Charles F Dight) who wanted it to be used for: consultation and advice on heredity and eugenics and for rating of people, first, as to the efficiency of their bodily structure; second, as to their mentality; third, as to their fitness to marry and reproduce (Dight cited in Reed 1974: 334). Dight had been a doctor working for a small insurance company, who amassed savings through astute investments, tax avoidance and an eccentrically frugal lifestyle. He lived in a house on stilts that he had built in a tree—reportedly due to his fear of grass fires—with a spiral iron staircase for entry, and proverbs—such as ‘Truth Shall Triumph, Justice Shall be Law’—written over the doorways (Reed 1980: 2). Later, the Dight Institute inherited the records of the Eugenics Record Office that closed in 1939 (Dice 1952: 9). According to Harper (1999: 4) the most common reason for referral to the Dight Institute was to advise on the inheritance of skin colour and whether a child for adoption would ‘pass for white.’ Chapter three: disciplining reproductive choice page 133
Soon after, genetic counselling was linked to the concept of a ‘non-directive’ method, borrowed from Carl Rogers’ model of psychotherapy (Wolff and
Jung 1995), as additional professional protection against eugenic ‘monster’ stories arising from accusations that it was a eugenic practice. Rogers soon modified his theories to favour a ‘client-centred’ model, later distancing himself from a non-directive therapeutic model:
I have never known who coined the word ‘non-directive.’ If I did, I apologize for it, but at any rate that certainly was descriptive of a certain early phase. Later the emphasis was on the client’s perceptions, and therefore client-centered (Frick 1971: 103).21
However, a non-directive model has continued to be popular within the medical genetics arena.
In early uses of the term ‘genetic counselling’, the term ‘non-directive’ often was not used explicitly with it. However, a non-directive model appeared to be a strong guiding principle. Professionals constructed (non- directive) genetic counselling as the provision of objective scientific facts only. Its invention provided a new technology of the self that co-constructed a new moral obligation for governing the self. Novas and Rose (2000: 493) have described this moral obligation in terms of an ideal for the client to act as a ‘responsible genetic subject’ who manages individual genetic risk. For example, a medical geneticist and contemporary of Reed’s warned his colleagues that they should never advise:
a couple whether or not they should have a child. All the geneticist can do is to advise what the chances are that a child of given parents may exhibit a particular hereditary trait (Dice 1952: 5).
21 According to Frick (1971: 103), by 1951 Rogers had become committed to his client- centred model, with the publication of his Client-Centered Therapy (Rogers 1951). At the time that fieldwork was done for this project, Rogers’ ‘client-centred’ model was used at an inter-disciplinary workshop on prenatal diagnosis to argue for maximising individual choice in contrast to the pursuit of ‘eugenic’ goals (NIH 1993: 7). Chapter three: disciplining reproductive choice page 134
Another example is the following definition of genetic counselling established at a WHO (World Health Organization) conference in 1968:
Genetic counselling, like any other medical service, should be devoted to the welfare of the individual or family seeking advice ... Counsellors should be as neutral as possible when stating the risk estimate ... (The individual) should be provided with the basic facts, without any attempt to relieve him (sic) of the responsibility for making his own decision (WHO 1969: 13). 22:
Despite its omission of the term ‘non-directive,’ Elias and Simpson (1993: 6) have identified it as an early expression of professional endorsement of a non-directive genetic counselling model.
A second ‘guidance,’ model for genetic counselling emerged in the 1950s
(Novas and Rose 2000: 493-494).23 It allowed the health professional to do more than simply provide information. The professional could also intercede in the short term, in order to manage the client’s emotional responses to risk information, with the aim of helping clients to govern themselves in the long- term.24 Thus, the guidance model more explicitly identified individual rationality as an additional part of the self to be governed, compared with the non-directive model that assumed rationality and identified the abnormal fetal body as the primary part of the maternal body to be governed.
22 The WHO has more recently stated that genetic counselling ‘should be as non- directive as possible’ (WHO 1998). 23 Examples include a US conference held in 1969 that used a guidance model to discuss prenatal diagnosis genetic counselling (Abramson 1970) and, in particular, the contribution by a leading Canadian medical geneticist at that time who was a strong advocate of that model (Fraser 1970). He described genetic counselling in terms of monitoring the client’s emotional response to risk estimates, helping to relieve negative reactions by reassuring them with ‘realistic’ interpretations of risk, with the option of exploring their feelings towards an abnormal child if planning to have children in the future (Fraser 1970: 10). A later example is Pauker and Pauker (1979) 24 An example is Fraser (1977: 580) who stated an aim for genetic counselling was to teach the client how to act as a responsible genetic subject: he stated how the health professional should ‘show them how decisions are made and how pros and cons are weighed’ (Fraser 1977: 580). Chapter three: disciplining reproductive choice page 135
Both the guidance and non-directive models coexisted into the era of prenatal diagnosis in the 1970s,25 when tensions between various models led tovigorous debate that continued to problematise non-directiveness.26 It was at this time that a third model emerged in the US—the psychosocial model of genetic counselling. An initial factor in its invention was the entry of the new
Masters level genetic counsellor professional from the late 1960s (see Section
3.2.3), the psychosocial model maintained a role for genetics science (the estimation of risk) but a larger role for the psychological sciences
(communication processes) in new counselling goals of managing the client’s cognitive and emotional responses with the broader social context (Kenen
1984: 543-546; Reilly 1979: 292).27 This is shown below in its professionally endorsed definition established in the mid-1970s:
Genetic counselling is a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. This process involves
25 My position is different from that of Novas & Rose (2000), who imply that the non- directive model was replaced by the guidance model. Rather, I argue that all three models continued to co-exist. 26 For example, a report on a US workshop about genetic counselling held in 1972 included non-directiveness as one of a number of ‘problems’ that had been discussed (Fraser 1974: 650). These tensions were captured in a leading US medical geneticist’s explicit rejection of eugenic practices but his difficulty in mobilising a non-directive method as a solution: Genetic counselors put the interests of the patient and his (sic) family before those of society and the state. The genetic counselor pursues medical and not eugenic objectives … Untoward effects on society may be pointed out but most counselors do not attempt to give advice based on considerations of the gene pool. So long as genetic counseling is not widely available, occasional dysgenic decisions by couples will have little effect on the gene pool. Genetic counselors hope that most reproductive decisions will be rational and will lead to reduction of genetic disease by reproductive restraint ... Genetic counseling traditionally has been non-directive ... Reproductive decisions are left to the family on the assumption that such decisions are a private matter between husband and wife. Most counselors are neutral, a few are more directive ... Depending on assessment of a family’s emotional status and intelligence, a neutral description of the risks without recommendations often is the best course. In many counseling problems, a more directive viewpoint is quite appropriate. In the absence of controlled studies on these matters no firm conclusions can be made (Motulsky 1974: 318). 27 Again, I argue that the new model did not replace the previous model(s) but coexisted and interacted with them. In particular, a non-directive model maintained an important role in constructing genetic knowledge as objective and uncontaminated by politics. Chapter three: disciplining reproductive choice page 136
an attempt by one or more appropriately trained persons to help the individual or family to (1) comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; (3) understand the alternatives for dealing with the risk of recurrence; (4) choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, and to act in accordance with that decision; and (5) to make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder (ASHG Ad Hoc Committee on Genetic Counselling 1975: 240). 28
It thus produced a stronger construction of the moral obligation for the client to act as a genetically responsible, autonomous and enterprising decision- making individual, and broadened the site for governing the maternal body beyond the fetal body itself to also include parental rationality. Other possible factors include the improved access to abortion with the 1973 Roe vs Wade amendment and subsequent controversies and political repercussions from the reactions by conservatives and powerful religious groups in combat with government, medicine, feminists and others. Another possible factor is the challenges to the biomedical model of medicine and its perceived abuse of power occurring at that time, and articulated in the widely received alternative biopsychosocial model (Engel 1977).
In the 1980s and 1990s, two international surveys of professionals doing genetic counselling reported differences in attitudes to non- directiveness according to gender, religious practice, and political view
28 Fraser was a member of the committee that formulated the statement (ASHG Ad Hoc Committee on Genetic Counselling 1975: 240). Chapter three: disciplining reproductive choice page 137
(Wertz and Fletcher 1988a; 1998).29 Gender was the most pronounced, where women were more than twice as likely to prefer non-directiveness.30 Political liberals and those who did not observe religious practices also favoured a non-directive method of genetic counselling (Wertz and Fletcher 1988a: 596-
599). For example, in the 1994 survey, genetic counsellors with a Master’s level of education gave much higher support for using prenatal diagnosis for sex selection (75 percent) than did health professionals educated to PhD level
(53 percent) and those with an MD (40 percent) (Wertz and Fletcher 1998:
263). Women have formed an overwhelming majority of Master’s level genetic counsellors, and comprise about 35 percent of those at the PhD level of education (ie, MD and/or PhD) (Wertz 1993b: 81).31 Most respondents used client autonomy as their rationale for supporting sex selection, which they prioritised over their own views that largely opposed it. According to
Wertz and Fletcher (1998: 270), they were able to prioritise client autonomy because those in many Western nations do not perceive sex selection as a
29 Sorenson, in the US, was a pioneer in surveying and researching ethical questions in genetic counselling (Sorenson and Culbert 1977 & 1979). In the early 1980s, Dorothy Wertz joined him at Boston University (see for example Sorenson and Wertz 1986; Wertz and Sorenson 1986; Wertz, Sorenson, and Heeren 1984). Fletcher had also been researching ethical questions in medical genetics, including genetic counselling and prenatal diagnosis Fletcher, Berg, and Tranøy 1985: 515-517). In the mid-1980s he joined them at the University of Virginia (Fletcher, Wertz, Sorenson, and Berg 1987: 657, 670). Since then, Wertz and Fletcher have formed a long-term and productive collaboration in ethical and sociological research on genetic counselling and prenatal diagnosis (Wertz and Fletcher 1988a; 1998b; 1989a; 1989b; 1992; 1993a; 1993b; 1993c; 1993d; 1993e; 1998). 30 They noted that an earlier smaller study in the US had found no gender differences (Zare et al 1984 cited in Wertz and Fletcher 1988a: 596). 31 According to another survey in the US in 1992, more Master’s level genetic counsellors (73 percent) than doctoral-level geneticists (64 percent) would disclose information about a fetus with the XY genotype (testicular feminisation syndrome) to a woman patient. The genetic counsellors’ reason for disclosing was that they had the skills to do so with sensitivity and care for the client, and it should be noted that 94 percent of the respondents were women (Pencarinha, Bell, Edwards, and Best 1992). Chapter three: disciplining reproductive choice page 138
social problem (Wertz and Fletcher 1998: 270).32 Wertz and Fletcher concluded by exhorting professionals giving genetic counselling to limit their use of then non-directive model for such special cases. They argued that health professionals in the medical genetics arena should use their regulatory power more strongly in genetic counselling, without looking to the law for justification (Wertz and Fletcher 1998: 260, 271-272). Thus they echoed
Paul’s critique of the binaries inherent in eugenic arguments that have supported a non-directive model of genetic counselling prioritising the autonomous individual over social effects (see Section 3.2). They called for a more flexible and complex model that risked being seen as ‘paternalistic’ but which could be more inclusive of both the individual and the social.
At the time that this study was done in the early 1990s, the psychosocial model was commonly used in American texts (for example see Gelehrter and
Collins 1990: 262; Fine 1993: 104), although still retaining a non-directive
‘goal’ (Fine 1993: 107).33 In the UK both non-directive (Harper 1988: 3) 34 and psychosocial (White-Von Mourik, Connor, and Ferguson-Smith 1992a &
1992b; Emery 1984: 2-3) models were popular. 35 In Australia, the arrival of the new genetic counsellor professional brought with it the following definition of their role that used both non-directive and psychosocial models:
32 However, Wertz and Fletcher also reported that 62 percent of US respondents in their 1994 survey reported they had received requests for sex selection by prenatal diagnosis. Only Egypt (100 percent), China (79 percent), India (70 percent), Hungary and Australia (67 percent) reported a higher rate, in contrast to Canada (46 percent), the UK (32 percent), and none in Thailand, Argentina and Colombia (Wertz and Fletcher 1998: 258). 33 At about that time, Burke and Kolker (1994: 51) were arguing against a non-directive model—as being ‘amoral’—and for ‘permissible directiveness’ in genetic counselling. 34 Harper (1988: 3) has defined genetic counselling as ‘the process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing and transmitting it and of the ways in which this may be prevented or ameliorated.’ In a more recent edition (Harper 1999: 3) he excluded the advisory role in favour of ‘an educational process.’ 35 White-Von Mourik is a genetic counsellor who gave a seminar on the psychosocial model during a visit to Australia in December 1992. Chapter three: disciplining reproductive choice page 139
To synthesize factual information and to develop the ability to communicate it clearly, non-directively, and without personal bias to people from greatly differing education, socio-economic, racial and ethnic backgrounds (HGSA 1991a: 5).
For a richer understanding of the following description and analysis, I have provided examples from my fieldwork in the footnotes. In the observed clinics, all health professionals appeared to be guided by a non-directive model—they consistently tried to ensure the client acted as a genetically responsible rational individual, sometimes going to great lengths to do so. 36
Many in this project stated that non-directiveness was more of a model than a practice.37 Some genetic counsellors accused clinical geneticists and obstetricians of being directive, and some doctors claimed there were generational differences in that older doctors were more directive.38 For the clients, their (often nervous) laughter and, sometimes repeated, attempts to
36 Health professionals appeared to abandon a non-directive aim when discussing technologies they perceived to be not as dangerous to the fetus. Many said they ‘recommended’ or ‘advised’ such actions. For example, one doctor said she would: definitely recommend that you have an eighteen-week ultrasound to look for structural abnormalities in the baby. Ultrasound won’t find all the structural abnormalities but you’ll find a good proportion of them. And ultrasound has no known risk to the fetus so we recommend that everybody has an eighteen-week ultrasound (U17W-C32: 311-313). 36 Doctors also gave ‘direction’ for actions most like routine medical work, such as advising treatment. For example, one ‘recommended’ the client take folate before future pregnancies to prevent neural tube abnormalities, and that for this pregnancy she ‘should’ already be consulting health professionals for general prenatal care (U20W/M-C30: 442-450). 37 ‘We should all try and be non-directive but we never can perfectly because no matter what we do our own personal prejudices are there’ (C33i1: 653); ‘My approach is to try and be non-directive and I’ve found that in most instances it’s possible to do that. … I’m fortunate in a way because I tend to deal with people who are better educated, more informed because they read more widely and discuss things with their doctors (C5i1: 321-322); ‘I would like to consider myself to be non-directive in that I don’t make any assumptions about what I think this person should do …Now, if being selective is being directive, then I was being directive in that situation. But I never, ever answer questions that people ask me about decisions. I never say what I think’ (G3i3: 612-616); ‘I’ve never deliberately imposed my views on someone—my personal biases—although I think sometimes we unwittingly do so’ (G15i1: 380-386). 38 One genetic counsellor contrasted obstetricians’ directiveness with medical geneticists who were ‘fairly non-directive because they’re trained in counselling’ (G1i1: 816). Another stated that there were ‘few’ doctors who were able to approach the level of non-directiveness she aimed for (G25i1: 373). One doctor stated that those with earlier training (‘us oldies’) could be more directive than younger colleagues (C3i1: 8). Chapter three: disciplining reproductive choice page 140 get advice from the health professional appeared to express tensions about the construction of themselves as autonomous decision-makers. Clients who stated that someone else had recommended a particular test were asked to make their own decision,39 as were those who asked the health professional for advice.40 Other clients sought direction when they asked about decisions made by other clients.41 Some women explicitly deferred to professional authority, stating they did not want the responsibility of making decisions.42
A psychosocial model also appeared to guide genetic counselling, when clients were often asked to describe their feelings about information given to
39 When a 37-year old woman 9 weeks pregnant stated early in genetic counselling that her referring doctor had recommended a CVS because it was ‘less invasive’ and ‘done at an earlier time than amnio’ the genetic counsellor asked her ‘what do you think about it?’ (U18W/M-G3: 40-42). When a 39-year old woman recounted her experiences with a previous pregnancy when the obstetrician offered to do an amniocentesis whilst doing a routine ultrasound, the doctor giving her genetic counselling for her current pregnancy replied: the process is a little bit different here. OK? Because we would want to, before the actual procedure is done, give you the opportunity of just being aware of the genetic risk situation and your options in a little more detail (U43W/M-C5/PT 48-57). 40 When a 42-year old woman stated that her partner wanted her to have a test and asked what the genetic counsellor would recommend, the reply was ‘I recommend that you think about it because it is a hard decision … All we can do is give you all the information we have’ (U37W-G6/PT: 256-258). 41 A 36-year old woman who asked ‘what are most people doing?’ was told ‘whatever they think … thinking about it, talking about it, and then making a decision’ (U39W/M-C33; C33: 619-626). 42 One 43-year old woman described her previous pregnancy: ‘I didn’t want to know any questions. I just went along, saw the obstetrician and did what I was told. I didn’t want to know anything.’ Nevertheless, she was told early in the genetic counselling session that ‘we’re here to explain the options, not tell you what to do.’ When she later asked the doctor what she would ‘advise,’ the doctor repeated her former non-directive aim when she said: ‘I don’t advise on tests … ’ The client continued to press for the doctor’s opinion even after announcing her decision, and then succeeded in getting the doctor’s approval but only for making the decision. Both acknowledged with laughter how the client had been unsuccessful in getting ‘a commitment’ from the doctor (U38W-C33/PT: 125, 216-218, 295, 497-512). When another woman said ‘I would like to be advised of what I should have, rather than me, sort of, electing it’, the doctor resisted by replying ‘We do leave the decision to you’ (U47W- C10: 204-212). Immediately after her genetic counselling session, the woman explained: ‘I’m frightened of having the test, frightened that it will hurt and this and that, um, I still think it’s a good thing and I, um, I don’t know that I’d elect to have it. But if it’s advised that I have it I certainly won’t be, um, you know, er, sort of, blocking it.’ Chapter three: disciplining reproductive choice page 141
them.43 Feelings believed to be harmful to their wellbeing were to be governed by rationality in terms of reasoned choices. In accordance with the psychosocial model, health professionals frequently expressed an aim of reducing anxiety in the client by offering them reassurance.44 Nevertheless, I observed a very anxious 36-year old woman who had sought a second genetic counselling session (this time with a genetic counsellor) after her dissatisfaction with the first one when, according to her, the doctor (C5) had given her told her to ‘make your mind up.’ She had been unable to do so, expressing her distress at being unable to make a choice, in the face of many others family members and doctors advising her to have a test and a friend having a child with Down syndrome after refusing to be tested.45
The health professional’s struggles to manage conflicts between and within the non-directive and psychosocial models were strongly evident in one genetic counselling clinic, where the doctor exerted considerable pressure on the client to act as a genetically responsible rational individual.
Soon after the client had stated she did not yet have a ‘preference’ for a test,
43 A medical geneticist in training told a 40-year old woman in the mixed public/private clinic: ‘And I’d like to get some idea of what you understand about the tests and how you’re feeling about them. And then we’ll talk about what the options are. OK?’ (U46W-C31). ‘So [laughs] what are your feelings today? Do you feel up to making a decision? Or do you want to have a bit more time to talk about it? (U48W/M-G6). When a 40-year old woman had difficulties responding to a question asking her to express her ‘concerns’ about her risk of a fetus with Down syndrome, the genetic counsellor laughingly acknowledged that the client’s ‘problem’ of voicing her feelings may have been compounded by the demands she had to meet in caring for her five children. (U19W-G3: 345-354). 44 ‘Yes, the odds are still well in your favour that it’s going to be a reassuring test for you and it’ll be a normal result. But, yes, you have to think about the other side. … So, in fact, your eighteen week ultrasound, if anything, would be more reassurance for you there.’ (Medical geneticist in training to a 40-year old woman in the mixed public/private clinic.) (U27W-C14/PT: C14: 172, 252) One other option, apart from having an amnio, is to have no test. You might decide that you’ve been especially reassured today and choose to do nothing. So that would be another option. (Medical geneticist to 34-year old woman and 52-year old man in the private clinic.) (U32W/M-C5/PT: 120). 45 U11W/M-G3/PT: 25, 107, 109. Chapter three: disciplining reproductive choice page 142 the doctor sought to interpret her decision and to instruct her on how to make a rational decision:
It sounds like to me that you’d like to have the CVS if you could. Is that right? … How do you feel about the miscarriage risk? I mean, that’s the main difference between the tests, apart from, um, like, with CVS it’s an earlier test obviously, so that’s nice. … And then the other slight problem with the CVS is the risk of the distal, limb defects that I mentioned.46
When the woman finally signalled her intention to have an amniocentesis by saying ‘I think I’m going to go with the amniocentesis’, the doctor responded:
‘it’s not a matter of what you’re willing to have. It’s a matter of what you want to have.’ Shortly afterwards, when the woman said: ‘I think I’m quite happy to have the later test’, she responded: ‘It’s important that it’s not what you’re quite happy to have. It’s important that it’s what you want to have.’47
In an interview, one health professional used all three models to describe her practice of genetic counselling. A medical geneticist in training described how she used a non-directive model (‘provision of accurate information’), a guidance model (‘understanding that if they’re totally disturbed and totally distressed that they’re not going to hear everything you say’) and a psychosocial model (I do listen and ask … ‘How does that seem to you?’ ‘Does that change what you’re thinking?’).48 On the other hand, the
46 U26W-C29: 704-712. 47 U26W-C29: 719-725, 776-778. 48 The following is her full description of genetic counselling: Provision of accurate information. Understanding where people are at and understanding that if they’re totally disturbed and totally distressed that they’re not going to hear everything you say. Knowing that there are words that you say to people where they stop listening—mental retardation, for example. And that no matter what you say afterwards they probably won’t hear it. Giving information. And I tend to give more information rather than sit there and listen to people’s feelings. … I suppose I do listen and ask what people are, you know, I’ll say ‘How does that seem to you?’ or ‘Does that change what you’re thinking?’ or ‘What are you thinking now?’ sort of questions. It’s not that I stand there and give them a lecture. Because often there’s not enough time anyway to spend. And they’ve come to hear what you have to say (C33i1: 465-484). Chapter three: disciplining reproductive choice page 143 medical geneticist who was also a proceduralist in private practice favoured a psychosocial model when he described his enjoyment and pride in providing enough time for counselling so that the client could be adequately informed, something he thought was ‘not done well’ by many proceduralists.49 Genetic counsellors more clearly favoured a psychosocial model of genetic counselling, but often also used it with a non-directive model.50 Those on the borders of the genetic counselling social world similarly mixed both the non- directive and psychosocial models.51 In the next section, I describe how the heterogeneous models of genetic counselling have been produced and located in the formation of professional disciplines and practices.
49 C5i1: 108-110. 50 Only one specifically stated that her work involved ‘psychosocial issues’ (G19i1: 82) and another (G3) said she very much liked the psychosocial aspects of genetic counselling discussed in a seminar we had attended. A number of genetic counsellors told me of their interest in psychology sufficient to pursue further studies in that discipline. There were several genetic counsellors who had originally trained as nurses and then undergone further academic studies in psychology or psychiatric nursing (G4, G19, G25) and one who had previously trained and worked in cytogenetics laboratories before training in psychology and genetic counselling (G3). 51 For example, a genetic epidemiologist stated in an interview that genetic counselling ‘should always be non-directive—it should just be there to provide the facts—and to talk about anxieties that are created by this sort of technology’ (E1i1: 539). In an interview, a nurse counsellor who did genetic counselling explained non-directiveness in terms of a psychosocial model: Q: How can you be non-directive? Nurse counsellor: You can’t direct their emotions. What they feel is what they feel. I think you need to be skilled in putting together what they feel with what the actual reality is. And I don’t think you’re directive if you’re doing that. Q: What’s the reality? Nurse counsellor: The reality is a risk. … It’s not an emotional risk. It’s the reality that thirty-eight, assuming, like, everyone else is [aged] thirty-eight, it’s a one percent risk. That’s reality. Q: But then they all interpret it differently, don’t they? Nurse counsellor: They interpret, that’s fine. That’s fine. Their interpretation is their reality (G4i4: 517-532.). Whilst outside the clinic she practised genetic counselling for women of advanced maternal age, this health professional did not identify as a genetic counsellor and had not undergone professional genetic counselling training. Her training had been in nursing, with later work experience in psychiatric nursing and further training in counselling. She was excluded from the genetic counsellor career path because of her employment by a proceduralist who wanted to use her nursing skills to assist in clinic procedures (G4; G4i3: 470, 475, 481, 579). Chapter three: disciplining reproductive choice page 144
3.4. Disciplining genetic counselling
A profession is not … an occupation, but a means of controlling an occupation (Johnson 1986: 45).
Since its early beginnings as ‘genetic advice’ before the invention of the term
‘genetic counselling’, the disciplines of both science and medicine participated in its practice as a professional occupation. In this section, I describe the sociohistorical formation of such professional relations that constructed genetic counselling’s position within the prenatal diagnosis package. I describe these relations in terms of three intersecting social spaces in which genetic counselling has been practised. Firstly, a convergence of individuals from a range of disciplines—but primarily within science and medicine— formed the new discipline of human genetics. Secondly, medicine’s dominance in that heterogeneous gathering of disciplines and professions formed the arena of medical genetics. Thirdly, professional specialisation formed the practices of genetic counselling and its position within a standardized prenatal diagnosis package.
3.4.1. The formation of human genetics
In the remainder of this chapter I include detailed descriptions of selected actors and their activities. My aim is to provide a rich understanding of broad social relations through detailed examples that illustrate similarities and differences across national and professional boundaries. The descriptions of the Australian context draws largely on data never before published.
The terms ‘genetics’ was invented by Bateson in the early 20th century
(Olby 1990: 533). In the UK in the 1920s and 1930s government played an early role in the formation of the discipline of human genetics. Members of the English civil service had been a powerful force in resisting eugenic Chapter three: disciplining reproductive choice page 145
reforms (Garton 2000: 13-14)52 and, together with government’s support of universities, enabled human genetics to flourish as a scientific discipline
(Kevles 1985: 193-198). In the early 1930s, medicine joined with government to play a more significant role. The MRC (Medical Research Council) provided part of the funding for Penrose’s research on the inheritance of intellectual disabilities that began in 1930 (Kevles 1985: 151, 200).53 In 1931, at a meeting of UK leaders in genetics science, medicine and psychology, the head of the MRC encouraged the group to emphasise the medical importance of human genetics when looking for more funding and other support. They were soon successful in obtaining significant funds from the MRC (and other sources, such as the Rockefeller Foundation), which enabled large-scale research on hospital patients. The formation of an expert committee on human genetics to advise the MRC in the next year (Kevles 1985: 200-201) strengthened government’s links further with the new discipline and its financial support of human genetics research activities and growth.
An early site for activity of the newly formed discipline was blood group research, which grew in significance to meet the medical needs of people injured during the Second World War (Kevles 1985: 195-197, 201-204).
Research into the genetics of blood groups led to work on the Rh factor and its role in the hemolytic disease of newborn children (Kevles 1985: 200-204).
That work, in turn, led to research into amniocentesis that, in 1952, was first
52 For example, the Under-Secretary of the Home Office in 1920 criticised eugenic sterilisation campaigns because ‘a very great difficulty exists without doubt in the exact diagnosis of mental defect,’ and L G Brock, of the Board of Control, supported the appointment of Dr Tredgold, an anti-eugenicist, because he ‘had committed himself rather definitely against sterilisation and in support of the view that the hereditary factor is much smaller than is usually supposed’ (Brock cited in Garton 2000: 14). 53 Penrose’s research that linked maternal age with Down syndrome in the fetus was described in Chapter two. Chapter three: disciplining reproductive choice page 146 reported for investigating the role of the Rh factor in the health of the fetus just before birth (Bevis 1952 cited in Fuchs 1971: 11).
By the middle of the twentieth century, there were three or four scientific and medical sites that provided genetic counselling in the UK. They included the Galton Laboratory—where Penrose worked after World War II
(Kevles 1985: 254)—and the first genetic counselling clinic in a medical location in the UK, established in 1946 at the Hospital for Sick Children in
Great Ormond Street, London (Harper 1999: 4) It was set up by John Fraser
Roberts who had originally trained in sheep genetics, but then developed an interest in human genetics. This had led him to work in a privately funded institution for the ‘mentally defective’ (as had Penrose), obtain a medical degree (although he never practised in the clinic), and write an influential textbook on medical genetics, first published in 1940 (Kevles 1985: 207-208).
Cedric Carter later joined him where, as part-time Secretary of the Eugenics
Society, he provided genetic counselling by mail in response to many enquiries sent to the Society (Kevles 1985: 366-367 footnote 6). 54
In the US the political culture was more fragmented and localised in the early twentieth century, compared with the UK, enabling local lobby groups and powerful individuals to convince governments and philanthropic organizations and individuals to fund significant eugenic programs (Garton
2000: 14). It was the ERO (Eugenics Records Office) at Cold Spring Harbor,
New York established in 1915 —commonly identified as the first genetic counselling centre—which attracted the most significant funding (President’s
54 Carter was reported to be proud of having family connections with Australia—through his Australian mother who traced her ancestry to a descendant in the Second Fleet from Britain—and indignant that he was required to apply for a visa to enter Australia (‘Obituary—Cedric Carter’ 1984). Chapter three: disciplining reproductive choice page 147
Commission 1983: 10).55 Until the mid-twentieth century there was scant institutional support in the US for human genetics, with most genetics work concentrating on plant and animal research (Kevles 1985: 205, 209-210).
Thus, prior to the mid-twentieth century there were no human genetics centres with a reputation for scientific excellence in the US, as there were with the Galton Laboratory in the UK.
However, Laurence Snyder and Madge Macklin were significant early agents of change in their work to promote human genetics within medicine in the US (Fraser 1963: 1; Porter 1977: 26; Reed 1974: 333). 56 Snyder was known as an ‘educator’ (Kallmann 1952: 238) and, in 1932, held the first known position of professor of ‘medical genetics.’ He established the first medical genetics course the following year, published the first influential textbook for medical genetics in 1940, and helped set up the first department of medical genetics in a US medical school in 1941. Nevertheless, he abandoned human genetics in 1947 (Kevles 1985; Porter 1977).57 By the mid-1940s a small number of medical genetics centres had been established in the US,58 and almost 40 percent of medical schools in the US and Canada included some
55 Money came from private philanthropic organizations such as the Rockefeller and Carnegie Foundations. The latter funded Davenport (the Head of the ERO) from his early research in 1904 until 1935, and individuals, such as the liberal social activist, Mary Harriman) (Kevles 1985: 25, 45, 54-55, 199, 208). 56 They both worked at Ohio State University in the 1930s and 1940s, both held the position of elected President of the ASHG, and Macklin was a trained doctor while Snyder had a PhD (Fraser 1963: 1; Porter 1977: 26; Reed 1974: 333). 57 Snyder’s department of medical genetics was in the Bowman-Gray School of Medicine, where he had difficulties attracting significant funding, suffered ridicule of genetic theories from his medical colleagues, and had his work identified with Nazi eugenics (Kevles 1985: 209-210; Porter 1977: 26). 58 For example, the Department of Medical Genetics at the New York State Psychiatric Institute was established in 1935. The heredity clinic at the University of Michigan was set up in 1940. This was where James Neel (trained in both fruit fly genetics and medicine) became the doctor in charge in 1946—the same year that he made his first tour of Japan to study the genetic effects of radiation after the bombing of Hiroshima and Nagasaki in 1945, work which later supported research into genetic abnormalities of the fetus (Kevles 1985: 223; Lindee 1994: 37; Porter 1977: 26-27). Chapter three: disciplining reproductive choice page 148 form of genetics in their undergraduate curriculum, although usually minimal in content (Herndon 1956: 2).
Thus, by the mid-twentieth century when human genetics began its exponential growth (Glass 1978: 10), it could form a new disciplinary space at the intersection of science and medicine. This new space was initially located in the US within science, when the ASHG was established in 1948 at a meeting of the AAAS (American Association for the Advancement of Science)
(Muller 1949).59 Within the first year the ASHG began publishing its own journal,60 elected a President—Herman J Muller, winner of a Nobel prize in
1946 for the discovery of mutation effects of X-rays (Nobel Prize Internet
Archive 2000), and gained a professionally heterogeneous membership which set to work to materialise a genetic body as a legitimate work object.
The ASHG brought together existing practices and specialised knowledge claims about multiple human bodies from the sciences, medicine, other health professions, and dentistry. 61 Government also played a part, in that
ASHG membership also included a small number of representatives of government bureaucracies such as the NIH and departments of ‘mental
59 The idea has been first raised at the meeting in the preceding year but an interest in human genetics had been expressed at an earlier AAAS meeting in 1941, when four scientific societies (the Genetics Society of America, the American Society of Naturalists, the American Society of Zoologists, and the Botanical Society of America) sponsored a symposium on human genetics (Snyder 1951: 2). 60 According to its 1952 editor (Strandskov 1952), publication of the journal (The American Journal of Human Genetics) began in September 1949. It was funded by membership subscriptions and private donations from individuals and organizations (including the Rockefeller Foundation) (Muller 1949; Strandskov 1952: 234-235). It should be noted that Kevles (1985: 223) used interview data to incorrectly state that the journal was established in 1954. 61 Disciplines represented included genetics, biology, zoology, chemistry, entomology, biostatistics, botany, agriculture, agronomy, veterinary science, anthropology, museum studies, dentistry, anatomy, physiology, pathology, bacteriology, immunology, psychiatry, obstetrics, haematology, oncology, and public health. (ASHG 1952; 1953; 1954). Members’ professional identities included scientists, doctors, dentists, nurses, medical social workers, medical technologists, and clinical psychologists (McKusick 1975: 270). Chapter three: disciplining reproductive choice page 149 hygiene’ (ASHG 1952; 1953; 1954). Although science was most strongly represented in HGSA’s membership in its early days, medicine soon became significant, as the number of doctors rose from about one-quarter (McKusick
1975: 270) or one-third (ASHG 1952; 1953; 1954)62 to about 50 percent of its membership by the early 1960s (McKusick 1975: 270; Rosenberg 1981:
334).63 In the clinic a shared division of labour continued the alliance between medicine and science.64 Their mutually dependent roles were articulated in human genetics textbooks that warned against the dangers of unscientific eugenics (Ludmerer 1972: 145-146).
Australia, with a centralised political culture since Federation at the beginning of the twentieth century, followed the UK example with a small elite in government and science that prevented large-scale eugenic programs
62 McKusick’s estimate (McKusick 1975: 270) was lower than that in the first published membership lists (ASHG 1952; 1953; 1954). In 1952, of the total of 145 medically qualified members, only 13 were located at six formally established medical genetics or heredity clinics in the US and Canada (ASHG 1952). Most of these had been established in the 1940s, and included the Department of Medical Genetics, Bowman Gray School of Medicine, Winston- Salem, North Carolina (established in 1940); the Heredity Clinic, University Michigan (established in 1941); and the Dight Institute for Human Genetics, University of Minnesota (established in 1943) (Herndon 1956: 2). Others represented were the Department of Medical Genetics, Columbia University, NY; the Department of Medical Genetics, McGill University, Montreal, Canada; and the Department of Medical Genetics, Hospital for Sick Children, Toronto, Canada (ASHG 1952). Kevles (1985: 254) states there were ten genetic counselling clinics in the US in 1951. Moreover, only about one-third (44) of the medical members were affiliated with institutionally organised medicine (eg, a university, hospital, research centre), the rest apparently being individuals in private practice (ASHG 1952; 1953; 1954). 63 McKusick (1975: 270) described the changing pattern of membership in terms of C P Snow’s clash of two cultures—that of the arts/sciences and of medicine: In the 1950s we heard some of our colleagues in biology bemoan the difficulties of stimulating interest in genetics on the part of their medical school colleagues, … In the 1960s we heard some of them bemoan the taking over of the field by the medical school faculty. In the 1970s let us hope we are achieving a state of mutual respect and intimate collaboration between the two cultures (McKusick 1975: 270-271). 64 An early ideal ‘heredity’ clinic comprised a doctor (‘preferably a specialist in some medical field’), a scientifically trained geneticist, a laboratory assistant and a secretary (Dice 1952: 7-10). The Dight Institute at the University of Minnesota that was headed by Sheldon Reed—who had a PhD in genetics and no medical degree—therefore was linked to a medical clinic, which employed a doctor (Ray Anderson) who was unusual in that he also had a PhD in genetics (Dice 1952: 10). Chapter three: disciplining reproductive choice page 150 in the early twentieth century (Garton 2000: 14). Up until the 1960s, when medical genetics first formally established itself in Australia, professionals who gave genetic advice/genetic counselling were either scientists (often trained in botany or zoology, with little training in human genetics) or doctors (with little training in genetics but an interest in its relevance to their specialism). Examples of some early scientists include Max Nichols (who worked in genetics at the University of New South Wales in Sydney), Bob
Kirk (a population geneticist and physical anthropologist, with a major interest in mathematics and blood group genetics, who worked in the
Department of Human Biology at the Australian National University in
Canberra), and Rory Hope (a scientist at the WAITE Institute in Adelaide, and a former protégé of the UK geneticist R A Fisher).65 Early examples of doctors working in genetics in the early 1960s were Byron Kakulas (a neuropathologist in Perth, Western Australia) and Graeme Morgan (a pediatrician in Sydney, NSW), who both had an interest and provided genetic counselling in Duchenne muscular dystrophy. It was only in 1966 that the first position in Australia for a professor of human genetics was established.
Robert (Bob) John Walsh took up the appointment at the University of New
South Wales, leaving his previous position as Director of the New South
Wales Red Cross Blood Transfusion Service which he had held for more than
65 Letter to author from C. Kerr 6.6.02; e-mail to author from G. Morgan 17.5.02, and interviews with D. Danks June-July 2002. Danks noted that Fisher moved to Adelaide after he retired in order to live near Rory Hope and continue their collaboration. Chapter three: disciplining reproductive choice page 151
20 years (Clark 1984).66
The organization of human genetics in Australia at a national level began almost thirty years later than in the US, with the formation of the
HGSA in 1977.67 Membership of the HGSA was strong from the beginning
(about 100 people attended the inaugural meeting in 1977 in Melbourne),68 when it formulated an explicitly political role in its relations with other disciplines and government. For example, the first constitution (adopted in
1978) contained the following objectives:
(1) To promote and assist the study of, and investigation and research into, Human Genetics. (2) To bring together for their common benefit those working professionally in the field of Human Genetics and in other fields of study which are related to or impinge upon Human Genetics. (…) (5) To consider all matters affecting the interests of the Society and such matters concerned with Human Genetics as are related to the interests of the Society and to promote or oppose any legislative or other measures affecting such matters. (6) To enter into any arrangement with any government or authority, national, State, municipal, or otherwise, that may seem conducive to the attainment of any of the objects of the Society (HGSA 1978: 1).
66 Walsh had originally set up a blood transfusion service in association with Sydney Hospital whilst serving in the Army during World War II. As Director of the New South Wales Red Cross Blood Transfusion Service for more than 20 years, he needed to understand the Mendelian genetics of blood groups for his medical research on blood group immunogenetics and the inheritance of hemochromatosis. Walsh went on to become Dean of Medicine and became very influential in Australian medical politics (e-mail to author from G. Morgan 17.5.02; letter to author from C. Kerr 6.6.02). 67 Minutes of HGSA Inaugural AGM 24-25.8.77. The Human Genetics Society of Western Australia was the first professional organization in the discipline, having formed in the 1960s (minutes of HGSA Council meeting 25.8.85). It became a branch of the HGSA in 1987 (minutes of HGSA AGM 13.5.87). 68 By 1980 membership had risen to 297, and doubled over the next ten years to more than 600 in 1991, shortly before fieldwork for this research project began (minutes of the HGSA AGM 25.9.91). Its increasing size and level of activities has seen the association establish a Secretariat in Sydney in the 1990s. After lengthy negotiations, secretariat services were firstly bought from RACOG in 1993 but, because of the high costs, the HGSA found better financial support from the RACP where the secretariat was relocated in 1996 (Goldblatt 1996). Chapter three: disciplining reproductive choice page 152
These objectives were useful for various professions within human genetics to expand their professional boundaries. For example, an HGSA President referred to the objectives when he stated ‘cytogenetics should probably be seen as a branch of genetics not pathology.’69 The HGSA objectives were translated later in the 1990s into linkages with other organizations both in
Australia, such as the RACP (Royal Australasian College of Physicians),
RANZCOG (Royal Australian and New Zealand College of Obstetricians and
Gynaecologists), and FASTS (Federation of Australian Scientific and
Technological Societies). The HGSA also became a founding member of a new international organization—IFHGS (International Federation of Human
Genetics Societies) formed in 1996. 70
As for the ASHG in the US, science and medicine both were integral to the formation of the HGSA.71 The idea for the HGSA had been raised before its birth in 1977 at regular scientific and medical meetings, such as those of the Genetic Society of Australia, Australian and New Zealand Association for the Advancement of Science (ANZAAS), the Paediatric Research Society and the Australian Society of Medical Research. Other one-off meetings that suported the idea include centenary celebrations of the Royal Children’s
Hospital in Melbourne in 1970, where some overseas geneticists were invited speakers, and of the Adelaide Children’s Hospital in 1976, where (according to Danks) the organiser—Tony Pollard, a medical pathologist who specialised
69 Minutes of HGSA AGM 7.5.81. 70 Minutes of the HGSA AGM 9.5.86; Bankier 2001; IFHGS n.d. 71 Early abstracts of papers given at the HGSA annual scientific meetings were published in the journal Pathology (minutes of HGSA AGM 28.6.79), although by 1985 this policy had been changed to publishing in the Australian Paediatric Journal. However, both indicated medicine’s strength within the association and possibly a changing disciplinary focus. Chapter three: disciplining reproductive choice page 153 in inherited biochemical diseases—‘hijacked’ the meeting into a genetics event.72
The inaugural meeting of the HGSA was convened by Tony Pollard and
Grant Sutherland (a cytogenetic scientist working in the same hospital complex).73 They were elected as Chairman and Secretary (respectively) of the interim and first Executive.74 According to Danks, Pollard was a forceful and valuable person who provided the drive to initiate the organization’s birth.75
The two other members of the Executive were Bob Kirk (Treasurer) and O M
(Margaret) Garson (Vice-Chairman).76 Other foundation members of the
HGSA from medicine included David Danks (elected President in 1979 and
1980), Charles Kerr (elected Vice-President in 1979 and 1980, and President in 1981 and 1982), Graeme Morgan, Robert Robertson (Treasurer in 1981 and
1982, Vice-President in 1991 and 1992, and President in 1993 and 1994), and
Gillian Turner.77
By the 1990s, the formal organization of human genetics had extended beyond individual nations. Possibly reflecting the long-term cultural and professional links between Australian health professionals and their colleagues in the UK and the US, Australia joined with Europe and the US in founding the International Federation of Human Genetics Societies in 1996.
72 Interviews with D. Danks June-July 2002; letter to author from C. Kerr 6.6.02. 73 Sutherland began work in cytogenetics in 1967 in Victoria and, after gaining a PhD overseas, returned to work in the South Australian hospital system. It was there that he earned an international reputation for his research into cytogenetics, becoming the first Australian to be President of the Human Genome Organization in the 1990s (DIST 1998). He is one of only a few Australians with an FRS (letter to author from C. Kerr 6.6.02), awarded in 1996, and he was made a Companion in the Order of Australia in 1998 (‘Honour for Professor Grant Sutherland’1998). 74 Minutes of first AGM of HGSA 24.8.77. 75 Interviews with D. Danks June-July 2002. 76 See next sub-section for more information of Garson. 77 Elected office bearer details obtained from minutes of HGSA Annual General Meetings. Chapter three: disciplining reproductive choice page 154
More recently, the Latin American region became a member and East-Asia is about to join (there are about thirty national societies who are
‘corresponding’ members) (IFHGS n.d.; Aymé 1999).
3.4.2. The formation of a medical genetics arena
The post-World War II period saw significant expansion of the discipline of human genetics, beginning in the US, and those who inhabited the intersection of human genetics with the diversity of health professions began to build on the new arena of medical genetics. Medicine has played a major role since those beginnings and the arena has been most strongly based in the
US. 78 In 1955 in the US the ASHG launched an active campaign to promote the inclusion of genetics in the medical curriculum (Herndon 1956: 6).79 In
1957 McKusick established a new Division of Medical Genetics at Johns
Hopkins University in Baltimore that became a world leader in medical
78 By 1980 there were almost 400 centres that offered amniocentesis, 571 clinical genetics units, and 633 that offered genetic counselling; about half of these were located in the US. In the US there were 227 amniocentesis centres, 282 clinical genetics units, and 327 genetic counselling centres for a population of about 250 million. This can be compared with the UK (14, 14, and 15 respectively for a population of about 60 million), Canada (28, 33, and 33—population about 25 million), and Australia (11, 15, and 16—population about 15 million) (Lynch, Fain, and Marrero 1980: 41-54). 79 Some disciplines, such as anatomy, resisted an increase in the genetics content of medical education (McEwen 1952). A strategy used by medical genetics was to claim that it had acquired its own ‘organ’—the chromosome—through its studies of ‘genomic “anatomy”,’ ’just as the cardiologist had the heart and the neurologist the nervous system’ (McKusick and Roderick 1987: 2). On the other hand, genetics had alreay effectively captured the wider medical imagination. At a meeting in 1954 of the Teaching Institute of the Association of American Medical Colleges, a medical geneticist who was one of the invited speakers later noted that: We expected to be called upon to justify our very existence, and were prepared to attempt to ‘sell’ genetics as a medical subject against heavy and determined opposition to any encroachments on the existing curriculum. As it turned out, we were tilting at windmills. Among the large group in attendance there was practically unanimous agreement that some knowledge of genetics would be quite useful to the practicing physician, and that the schools of medicine have an urgent responsibility to provide this training. In fact, the geneticists were gently chided for not having met this problem more vigorously in the past (Herndon 1956: 3) . Chapter three: disciplining reproductive choice page 155
genetics (Kevles 1985: 232-233).80 A graduate of the university in 1946,
McKusick worked there for over thirty years. He trained more than a hundred clinical geneticists, wrote a highly successful textbook (McKusick
1961), established a summer course in medical genetics for doctors and scientists81 and midwifed the ‘birth defects conferences’ (both supported by the National Foundation-March of Dimes) (Motulsky 1978: 102).82
Technoscientific innovations in the 1950s and 1960s provided the basis for a later triumvirate scientific presence of cytogenetics, biochemical genetics and molecular genetics. The molecular basis for genetic abnormality was established with Watson & Crick’s work on the genetic code in the 1950s and for which they received the ‘scientific seal of approval’ with a Nobel Prize in 1962 (Nobel Prize Internet Archive 2000). At that time, Fraser (1963: 1) described their achievement as an occasion of ‘excitement’ over ‘dramatic progress’ in genetics—a belief that fuelled a large growth in medical genetics departments, and the funding and publication of their research. However, it was for the chromosomal body that genetics science first began to make a significant contribution to medicine, when Down syndrome was identified as a chromosomal abnormality (Lejeune, Gautier and Turpin 1959; McKusick
80 For example, McKusick has published a genetic catalogue, later developed as OMIM (Online Mendelian Inheritance in Man) for the World Wide Web by the US National Center for Biotechnology Information (NCBI). It has been a discursive resource for claims about progress in medical genetics science. Integrating molecular and chromosomal representations of the body, it provides a simple numerical indicator of an increasing number of genetic sites whose locations have been located on specific chromosomes. For example, the NCBI proclaimed 1 December 1998 as the date when more than 10,000 genetic sites had been identified, compared with 1,487 in the first printed edition of 1968 (NCBI n.d.). 81 The two-week course (that aimed ‘to teach the teachers’) at Bar Harbor—jointly taught by Johns Hopkins and Jackson Laboratory staff—first began in 1967 as a course in ‘medical genetics’ and became a course in ‘medical and experimental mammalian genetics’ in 1977, later attracting younger researchers (McKusick and Roderick 1987: 4). 82 See section 2.5.1 . Chapter three: disciplining reproductive choice page 156
1961). As described in the previous chapter, 83 the knowledge, technology and techniques of cytogenetics—some also used in bacteriology and pathology— of new staining techniques, tissue culture, microscopy and photography were the components of genetics science that Lejeune and his colleagues found useful for their pediatric patients with Down syndrome. Their discovery has been credited as creating the new discipline of medical cytogenetics, without which the science of human cytogenetics might have died (Hsu 1979: 38). At the timeof their discovery, Lejeune turned to biochemistry for a cause, when he suggested that the cause of Down syndrome was an abnormally excessive production of an enzyme involved in tryptophan metabolism (McKusick
1961: 362).In the 1960s biochemistry found a significant diagnostic role in the genetics clinic, with the development of techniques that examined proteins either as metabolites of abnormal proteins (enzymes) or products from theorised genetic abnormalities (Thomas 1978: 157). An example of the former is the widely used Guthrie heel prick blood test for PKU
(phenylketonuria) in newborn screening programs (Guthrie and Susi 1963).
Funding for medical genetics in the US at that time came from diverse public and private sources for both research and health services. 84 Some used a public health model to justify government funding for medical genetics, with patients described in terms of populations rather than the traditional medical model of individuals in clinics:
83 See section 2.5.2 in the previous chapter. 84 By the late 1950s Neel’s small heredity clinic at the University of Michigan had become expanded to a Department of Human Genetics that was active in research and training, using funds he had attracted from the Atomic Bomb Casualty Commission, the NIH, the Public Health Service and the Rockefeller Foundation (Kevles 1985: 230). It would of interest to do further investigations of possible links between funding sources and the type of scientific activities they were supporting. However, such research is beyond the scope of this project. Chapter three: disciplining reproductive choice page 157
Human genetics is a community problem and the cost of providing advice and of research in this field should be borne by the state, just as the costs of most other projects that affect public health are borne by the commonwealth (Dice 1952: 12).
In the UK in the early 1960s the Nuffield Foundation was a wealthy philanthropic organization that joined with government to support the expansion of the medical genetics arena. It made a large grant to establish a department of medical genetics at the University of Liverpool and to add to the extensive work in human blood group research already done in England.
That centre played a significant role in the UK in furthering research into human genetics, and in the medical genetics arena through its education and training programs (Zallen 1999). By the end of the 1960s, there were five chaired departments of human genetics in the UK (Kevles 1985: 254). Major medical genetics centres were located at the Universities of Cambridge and
Edinburgh, and in London at the well-established MRC Human Biochemical
Genetics Unit at the Lister Institute and the MRC Clinical Genetics Unit at the Institute of Child Health of Preventive Medicine (Emery 1970).85
In Australia, medical genetics also began to be established in the early
1960s. At that time, doctors who sought to be trained in clinical genetic had to do so overseas, and the UK and the US were equally favoured.86
Cytogenetics played a primary role as it had done elsewhere, and its beginnings in Australia have been attributed to the diagnosis of Down syndrome from a bone marrow sample analysed in 1960 at the OLL (Oliver
Latham Laboratory)—a small laboratory established the year before at the
85 See the institutional affiliation of the authors in Emery (1970). 86 Letter to author from C. Kerr 6.6.02 Chapter three: disciplining reproductive choice page 158
North Ryde Psychiatric Centre in Sydney, NSW (Smith 1990; Turner 1990).87
The head of the OLL was Brian Turner, who had trained in neuropathology in the US and quickly gained additional skills in cytogenetics and biochemistry.88 Later in Victoria, Margaret Garson—a specialist in hematology—worked at St Vincent’s Hospital, Melbourne where she further specialised in cancer cytogenetics. At that time, Albert Baikie, who had discovered the first of the chromosome translocations in the leukemias, was
Professor of Medicine at the same hospital. Garson trained in cytogenetics and genetics with Theodore Puck in Texas, later doing some diagnostic cytogenetics in Melbourne but referring patients elsewhere for counselling.89
Biochemical genetics was a second laboratory-based science crucial to the formation of medical genetics, although not so much to the analysis in this project. Significant individuals in its early formation in Australia have included Bridget Wilcken in Sydney, NSW, and Tony Pollard (previously mentioned).
In Australia the first formally recognised medical genetics clinic was established in 1963, about 20 years after Snyder’s first such clinic in the US and Fraser Robert’s clinic in London, in 1941 and 1946 respectively (Harper
1999: 4; Porter 1977: 26). Located in the Division of Paediatrics, at the complex of the Prince Henry, Prince of Wales and Eastern Suburbs Hospitals
(now the Sydney Children’s Hospital) in Sydney, its head was 32-year old
Graeme Morgan, who had trained as a pediatrician and then specialised in
87 History might have told another story, however. The year before, in 1959, Brian Turner had organised with Rodney Shearman (an obstetrician) and Charles Kerr (a clinical geneticist) to do prenatal fetal sexing for a woman who had been identified as a carrier of hemophilia. She decided not to have the test (letter to author from C. Kerr 6.6.02). 88 Interviews with D. Danks June-July 2002, and letter to author from C. Kerr 6.6.02. 89 Interviews with D. Danks June-July 2002. Chapter three: disciplining reproductive choice page 159
Duchenne muscular dystrophy—an hereditary abnormality usually detected in children.90 At that time, he was deeply influenced by Fraser Roberts’ textbook (Roberts 1970), which aroused in him a feeling of being:
amazed and delighted at the logic and the beauty of it and how much knowledge there was that I never suspected. I went around lecturing other doctors about it and watching their jaws drop.91
His comments illustrate the sense of personal power he gained from a new understanding of the body as a genetic body, and of the significant effect this new unerstanding had on others in medicine in Australia at that time. Over the next 25 years, Morgan became a significant political actor, especially as head of a working party on medical genetics services that reported to the New
South Wales government in 1987, and of the advisory committee established later that year (‘Graeme Morgan—an Appreciation’ 1998; NSW Health 1987;
NSWGSAC 1991: 1).92
In 1962, one year before Graeme Morgan set up the department of medical genetics at the Prince of Wales Hospital complex, David Danks started practising genetic counselling in Australia after completing full training in clinical genetics overseas. Like Morgan, he was trained in pediatrics and worked in the same hospital throughout his medical career but, in contrast to Morgan, he developed a stronger interest in scientific research. Danks’ research interests were fostered institutionally, as the Royal
Children’s Hospital where he trained was encouraging doctors to do basic
90 Bob Walsh, then Director of the NSW Red Cross Blood Transfusion Service (see sub- section 3.4.1), helped Morgan to establish a cytogenetics service at the Blood Bank before it relocated to the hospital complex, and they used to lecture together to medical students (e- mail to author from G. Morgan, 17.5.02). 91 E-mail to author from G. Morgan, 17.5.02. 92 See Chapter 5 for further discussion about the role of those committees in the regulation of medical genetics with respect to prenatal diagnosis services. Chapter three: disciplining reproductive choice page 160 research as well as develop clinical services. The hospital was unique in
Australia at that time in that it had adopted an American ‘scientific’ model of practice, replacing the honorary system (in which the senior doctors donated their part-time service) by a salaried system for all doctors. By 1950 the hospital had recruited full-time leaders in medical administration, clinical research and diagnostic laboratories, and set up research trainee posts for promising young doctors.93 In contrast, there were very few salaried doctors working in hospitals elsewhere in Australia. Early in his training, Danks receiveda grant to travel overseas for further training which he used to establish links with and learn from experts in both the UK (training with
Fraser Roberts in 1960) and the US (training with Victor McKusick in 1961).
In 1962 when he returned to Australia, Danks worked in both research and pediatrics outpatient clinics at the Royal Children’s Hospital, soon expanding his genetic counselling to other nearby hospitals.94
In 1967 Danks increased his research activities when he left his general pediatrics work to take up a half-time position as Reader in Human Genetics at the University of Melbourne,95 a position established in 1962 by the geneticist, Michael White (Webb 1984). An international expert in evolutionary genetics with a special interest in insect chromosomes, White exemplified the international links between Australia, the UK and US, the intersecting social worlds of the wide range of sciences that made up human
93 The changes all began when Lady Ella Latham, President of the all-women Committee of Management, and advised by a group of leading medical scientists at the University of Melbourne, visited several leading paediatric hospitals in the USA, including the Boston and Philadelphia Children’s Hospitals. She returned determined to introduce the science-based approach she saw there. Lady Latham retired in 1954 and was followed by an even more energetic woman, Lady Murdoch—now Dame Elizabeth Murdoch—and still a dynamic supporter of genetics research at 95 years of age (interviews with D. Danks June-July 2002). 94 Interviews with D. Danks June-July 2002. 95 Interviews with D. Danks June-July 2002. Chapter three: disciplining reproductive choice page 161 genetics, and the political activism of many of those working in that discipline. He had been educated in London where J B S Haldane ignited his interest in genetics. He lectured in zoology until 1936, when subsequent research in the US saw him influenced by the geneticist, H J Muller, soon to become President of the ASHG. After World War II96 White taught at Cold
Spring Harbour until 1947 and then at the University of Texas as Professor of
Zoology until 1953. He then worked for a short time in Australia (to escape from McCarthyism in the US), later returning to Australia in 1959 to take up the Chair of Zoology at the University of Melbourne. In 1964 White helped establish the Chair of Genetics at that university, a position he held until his retirement in 1974. When White established the position of Reader in Human
Genetics, he appointed Peter Parsons (a mathematical geneticist who was a protégé of R. A. Fisher in the UK). When Parsons left in 1967 to take up a position at La Trobe University, David Danks became the second person to hold the position. Impressed by Danks’ combined medical and scientific skills and believing that medical training was an essential requirement for human genetics research (Webb 1984), 97 White thus instituted stronger links between human genetics and medical research within Australia. Danks maintained some medical work, with one clinic per week at the Royal
Children’s Hospital where he did genetic counselling for pediatric and adult- onset diseases. The term ‘genetics clinic’ came into unofficial use about this time, although it was not until 1973 that the clinic’s name became official.98
96 During the war White briefly held a research position at the University of London and then worked for the British Ministry of Food where, he claimed, he invented dried mashed potato (Webb 1984: 9). 97 Additional information also provided by D. Danks in interviews June-July 2002. 98 Interviews with D. Danks June-July 2002. Chapter three: disciplining reproductive choice page 162
Other early pioneers of medical genetics already were trained in a range of disciplines and gained training in genetics overseas. Athel Hockey, a doctor in Western Australia, supported her genetic counselling work with short blocks of training overseas, such as with Cedric Carter in the UK.99
Gillian Turner was a pediatrician originally from the UK where she had firstly trained in surgery but, with limited career prospects in that field, decided instead to train in pediatrics in both Canada and the UK. She developed an interest in chromosomes after attending a pediatrics lecture in Canada that reported on the new work in cytogenetics of Down syndrome. She then accepted a short-term offer to work in medical cytogenetics at the OLL in
Australia,then in pediatric general practice in the UK and in mental retardation with Victor McKusick. After marrying Brian Turner, she returned to Australia to continue in what became her long-term interest in the genetics of mental retardation. By the early 1960s she had begun genetic counselling at the Children’s Medical Research Foundation, in the Crown Street Women’s
Hospital, and in general pediatric genetics at the Royal Alexandra Hospital for Children in Sydney.100 She worked there with Brian Kearney (a medical officer to the Right to Life movement) and Charles Kerr, a medical geneticist who arrived in Australia in 1962. Kerr was unusual in that he had not initially trained in pediatrics but, rather, in general medicine. He had followed this with training in clinical genetics and human population genetics at Oxford in the UK, and in Australia specialised in public health.101 Elsewhere in
Australia, cytogenetics also was a focus for early genetic counselling work.
99 Interviews with D. Danks June-July 2002 100 A genetics clinic was not formally established there until 1967 (letter to author from C. Kerr 6.6.02). Chapter three: disciplining reproductive choice page 163
For example, Sister Regis Mary Dunne—a nun in the Roman Catholic Church and trained in cytogenetics—gave genetic counselling at the Mater Hospital in Brisbane, Queensland from the 1960s (Dunne 1990: 21).102
Contemporary medical genetics services are largely organized at a State level, although coordination varies from highly centralised to loosely networked. At the time that fieldwork was done for this project, the most centralised medical genetics service was probably the Victorian Clinical
Genetics Services, established in 1988 and located within the Murdoch
Institute for Research into Birth Defects at the Royal Children’s Hospital in
Melbourne. It coordinated most clinical genetics services, serviced outreach clinics in rural Victoria as well as Tasmania, and employed over thirty-five staff.103 In Western Australia medical genetics services were administered centrally at the King Edward Memorial Hospital for Women, although services were offered in a number of other facilities.104 South Australian medical genetics services were centred on the Adelaide Medical Centre for
Women and Children, although each clinical and laboratory group was
101 Interviews with G. Turner 22.11.93 and D. Danks June-July 2002, and letter to author from C. Kerr 6.6.02. 102 Information also provided in letter to author from C. Kerr, 6.6.02. Sr Regis Dunne also has pursued an active interest in bioethics (for example, she was a member of the working party 103 At the time of my fieldwork, there were five clinical geneticists (including the head of the unit) and two training fellows, four ‘clinic coordinators’ (at least some of whom did genetic counselling), a half-time medical social worker, three clerical workers, thirteen cytogeneticists in its laboratory (and others situated elsewhere), nine scientists in newborn screening and DNA diagnostics, and two other laboratory workers (Murdoch Institute 1991: 56). 104 Genetic counselling clinics were held at Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women (where prenatal diagnosis genetic counselling was also done). Other specialised clinics were held at Royal Perth Hospital (muscular dystrophy) and Royal Perth Rehabilitation Hospital (neurogenetic disorders), and outreach services in the country were also available (‘Genetic Services Australia Wide’ 1990). Chapter three: disciplining reproductive choice page 164 largely independent administratively and financially.105 In New South Wales medical genetics services were distributed among four relatively autonomous medical genetics clinics located in major teaching hospitals, one of which was located outside Sydney in a major regional centre (Newcastle).106 Each centre provided its own laboratory services located within the respective hospitals, and provided outreach clinics in country towns and regional centres. They also provided genetic counselling services for associated prenatal diagnosis clinics held in large urban centres. From the mid-1980s, an expert advisory committee liaised with the State government to coordinate funding and networking across the State (‘Genetic Services Australia Wide’ 1990). Kenen
(1986: 175-177) has suggested that the relative autonomy of Australian States, their different historical origins, and the significant role of government in medical services contributed to slow development of national coordination of medical services. For example, health services in NSW became dispersed among different centres in country, regional and capital city locations, following the pattern of early widespread convict settlements. This can be compared with a more centralised State control of health services in Victoria and South Australia, which were established as free settler states with a concentrated population in their capital cities. Kenen does not mention,
105 A medical genetics clinic was located at the Adelaide Children’s Hospital campus of the Adelaide Medical Centre for Women and Children. It also serviced five other clinics in Adelaide (including prenatal diagnosis genetic counselling clinics at Queen Elizabeth and Queen Victoria Hospitals and Flinders Medical Centre) and three outreach clinics in the country. Support laboratory services were provided at the Adelaide Children’s, Queen Victoria and Queen Elizabeth Hospitals campuses, and the Institute of Medical and Veterinary Science (‘Genetic Services Australia Wide’ 1990). 106 The four medical genetics units were located at the Royal Alexandra Hospital for Children, Westmead Hospital, Prince of Wales Children’s Hospital, and Newcastle Hospital. They had funding for the following dedicated positions: ten clinical geneticists, 4 training fellows, 16 full-time equivalent positions for genetic counsellors, two specialists in genetic education, 14 cytogenetics laboratory staff, 3 laboratory staff in biochemical genetics, one scientific officer and a part-time nurse-coordinator in the newborn screening service, and 9 laboratory staff and 1 part-time secretary in DNA diagnostics (NSWGSACC 1991: 7-21). Chapter three: disciplining reproductive choice page 165 however, an additional role for universities: the formation of more than one clinical genetics unit in Sydney could also be due to the presence of two major universities with competing medical schools. Moreover, those working in clinical genetics services in New South Wales since Kenen’s study have made a significant change to what she had seen previously as a ‘team approach’ that was ‘floundering’ in that State (Kenen 1986: 176), in their ability to negotiate as a group for government recognition of their expertise since the mid-1980s
(see Chapter five).
3.4.3. Professional regulation and prenatal diagnosis
The 1970s
The introduction of prenatal diagnosis into the medical genetics arena in the early 1970s brought further expansion of that arena and professional regulation within it, through specialisation and accreditation. By the mid-
1970s, in the early growth period of amniocentesis, the number of centres offering genetic counselling worldwide had expanded significantly, from about 15 in 1951 to 900 in 1974. The US had become a dominant force, in that there were almost 400 genetic counselling centres in the US alone (Kevles
1985: 254; Reed 1974: 336), and their location in the clinic (Sorenson,
Swazey and Scotch 1981: 3) made medicine the disciplinary locus.107 In 1972, the WHO recommended that every medical school or other major medical centre should provide medical genetics services, and this included genetic counselling. Medicine’s dominance was asserted by WHO’s recommendation that ‘the head of the counselling clinic should be trained in medicine as well
107 A survey of professionals doing genetic counselling found that 80 percent of them held a medical degree (most practising in pediatrics) and 11 percent a PhD only (most practising in genetics) (Sorenson and Culbert 1977: 135). Chapter three: disciplining reproductive choice page 166
as in human genetics (WHO 1972: 366).’108 During the 1970s, genetics increasingly became a compulsory part of the medical curriculum, going from about 50 to 70 percent of US medical courses (Childs, Huether, and Murphy
1981; Kevles 1985: 254).109 Courses were most often offered where genetics was already a formally established discipline at the institution, although the courses were usually held within medical departments and mainly in pediatrics (Childs et al. 1981: 3-5).110 Clinical geneticists also has continuously promoted education of the wider medical profession (ASHG Information and
Education Committee 1995; Holtzman 1993; Holtzman and Watson 1997;
Johnston 1992).111
In the UK, medical genetics had been marginalised within the NHS
(National Health Service) until the mid-1970s. Coventry & Pickstone (1999) have recently argued that the change then was due to the advent of prenatal diagnosis for Down syndrome. In addition, the intersection of medicine with
108 All members of the Scientific Group that prepared the WHO report were doctors —most attached to university medical departments. Two of the authors later collaborated with others on an article aimed at a scientific audience to claim that genetics science and medicine had ‘evolved’ a closer relationship. They argued that genetics science had produced a new medical paradigm, replacing one solely based on ‘the environment,’ with one of a genetically determined body interacting with the environment (Scriver, Laberge, Clow, and Fraser 1978: 946-947). 109 However, there was wide variation in the position of genetics within the curriculum, as lectures ranged in length from 6 to 54 hours (Childs et al. 1981: 3). 110 One reason many clinical geneticists have been pediatric specialists is that many abnormalities identified as having genetic origins are first encountered soon after birth or in early childhood. 111 For example, a survey by staff at the Johns Hopkins medical institutions reported in 1993 that pediatricians and obstetricians scored higher than did family doctors on genetics knowledge (tests appear to have involved calculating risks of inheriting various types of genetic abnormality) (Holtzman 1993). The ASHG continues to monitor national medical curricula in the US, recently publishing a guide on genetics in medical school courses (ASHG Information and Education Committee 1995). The National Coalition for Health Professional Education in Genetics was recently formed as an initiative of the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute, to work with genetic and non-genetic professional societies and consumer groups to develop core curricula on genetics (Holtzman and Watson 1997). A recent report in the UK by general practice researchers has described GP resistance to implementing new genetic technologies (Kumar and Gantley 1999). Chapter three: disciplining reproductive choice page 167 human genetics science, counselling, education, and public health enabled clinical genetics to gain a strong position in hospital-dominated services of the NHS from that time. In 1978 medicine forged closer links with government when the Clinical Genetics Society recommended regional funding of medical genetics services and the formation of an advisory committee to government (Ferguson-Smith et al. 1978: 26).
By the late 1970s medical genetics in the US had forged closer links with government, although these later became disrupted by the rise of conservative politics and the anti-abortion movement. Medical genetics expanded as a result of the National Genetic Disease Act, which initiated coordinated funding in all States of genetic counselling, genetic screening and other medical genetics services.112 Within about five years, forty State-wide genetics service programs had been set up and, in many states, working partnerships were established between universities, State health departments and programs such as for sickle cell anemia (Holtzman and Watson 1997).
However, in 1981, at the beginning of the conservative Reagan years, legislative changes eliminated dedicated funding at a national level for medical genetics services, which were subsumed within maternal and child health block funding grants to States (Charo 1993b: 569; Holtzman 1983:
354).113 Federal funding was effectively halved (Meaney 1992). When the legislation was repealed altogether in 1988 towards the end of the Reagan
112 The legislation was passed in 1975 but appropriation of funding was not achieved until 1978 (Kevles 1985: 287). 113 It has been estimated that in 1990 less than 2 percent of funds through maternal and child health block funding supported genetic services other than newborn screening. States provided far more funding. In 1990 $8 million came from Federal funding through the maternal and child health program compared with $22 million from the general revenues of the States (Charo 1993b: 569). Some genetic counselling and screening services (eg, sickle cell and hemophilia programs) continued to receive Federal funding, but at a reduced rate (Holtzman 1983: 354). Chapter three: disciplining reproductive choice page 168 presidency (Clayton 1993: 134), the availability of genetics services had significantly reduced (Holtzman and Watson 1997).114 Some of those working in genetic counselling services in the US responded to reduced Federal government funding by seeking to strengthen links with others whose social worlds intersect, such as those specialising in public health and working in government, as well as with consumers.115 Some have looked to professionals working outside the health sector, such as in publicly funded child welfare services (Rauch and Plumridge 1992).116 US law governing access to genetics services has become nationally inconsistent, with little consensus by the individual States that carry out most legislative and funding controls of genetic testing technologies.117 Another source of funds for individuals using prenatal diagnosis is privatised health insurance, although there is a lack of data to quantify its role. Individual litigation for ‘wrongful birth’ has been
114 Medical genetics services have had a history of not charging fees. Much of the work has been funded by a mix of public and private sources—as research or medical services within the budgets of universities and hospitals and/or from ‘soft money sources’ such as research grants, endowments from individuals or organizations such as the March of Dimes Foundation (Myers and Prouty 1987: 521; Omenn 1986: 869; Sly 1977: 546-550). 115 Formal links were established in 1985 through the formation of CORN (the Council of Regional Networks for Genetic Services). This organization coordinated the collection, analysis and sharing of information, developed quality control systems in both the laboratory and clinic, developed educational programs of professionals and consumers, and advocated for policies and funding methods for medical genetics services (eg, determining ‘guidelines for a minimal state genetic services program’). CORN also strengthened links between different professional organizations, such as the ASHG, NSGC (National Society of Genetic Counsellors), the AMCHP (Association of Maternal and Child Health Programs), and the APHA (American Public Health Association) (Meaney 1992). 116 A social worker and genetic counsellor justified a role for medical genetics in child welfare services because of the threat of ‘wrongful adoption’ litigation if adoption service providers did not also provide relevant genetic information about an adopted child. On the other hand, they described how ‘it will be difficult, if not impossible, to untangle genetic and social factors’ that contribute to the problems experienced by children ‘with special needs’ who go through government adoption programs (Rauch and Plumridge 1992: 171). 117 The State of Texas has adopted an anti-abortion position, passing a bill in the Senate in 1998 to extend a national network of research programs into birth abnormalities, and making funds available for prevention programs that do not involve abortion, such as folate before pregnancy and alcohol abstinence (March of Dimes Birth Defects Foundation 1998). On the other hand, in 1990 the pro-choice State of California funded over 80 percent of its genetic services budget for prenatal screening services that support abortion as an option (Charo 1993b: 569). Chapter three: disciplining reproductive choice page 169 claimed to be even more powerful than government’s role in regulating medical genetics and genetic counselling (Clayton 1993: 56).118
In Australia, genetic counselling about prenatal diagnosis also began in the early 1970s. It was first done in Melbourne at the Royal Women’s
Hospital in 1971, to diagnose Down syndrome in the fetus for a couple who were devout Roman Catholics—they had already had one child with a Down’s translocation, and one parent subsequently had been identified as the carrier.
Dorota Muchnicki, a migrant from Eastern Europe, had first set up the laboratory technology and practised diagnosing Rh factor and fetal sex. She was able to give the parents a negative result and, thus, saved them from further decisions about abortion.119
It was also in Melbourne in the 1970s that training in clinical genetics was first offered in Australia due to Danks established links between university research and clinical practice. Danks began training a ‘second generation’ of clinical geneticists, beginning with Les Sheffield in 1974.
Others who trained there include Agnes Bankier, Eric Haan, John Rogers and
David Sillence.120 They included one of the medical geneticists in my study, whose training and subsequent work activities exemplify the intersection of many social worlds in the work practices of those in the medical genetics arena. He had previously trained in pediatrics and gained a university research fellowship to support his further training in medical genetics.
However, this was not considered sufficient and he completed his training in
118 Wrongful birth is a category of lawsuit brought by parents of a child born with, say, a genetic abnormality. The parents’ claim is that a health provider did not provide an adequate standard of care because they did not give them appropriate information before the birth. 119 Interviews with D. Danks on June-July 2002. 120 C5i1: 94. All have been active members of the HGSA. For example, Eric Haan is currently President, and Agnes Bankier immediate past President in 2000-2001. Chapter three: disciplining reproductive choice page 170 a much larger US medical genetics program that employed more than sixty people from a range of genetics disciplines (including cytogenetics, biochemical genetics, and genetic epidemiology), and who worked in large- scale screening programs for Tay-Sachs screening and prenatal diagnosis. On his subsequent return to Australia, he found a position in public health within the university-based medical system and a successful career path in clinical genetics. In the early 1980s he employed a geneticist (with a PhD in botany) who wanted to become a genetic counsellor, and she later became one of the first accredited genetic counsellors in Australia. They both went on to make a significant contribution with other professional colleagues (some of whom participated in this study) to the organization of professions working in the medical genetics arena and to medical genetics services at a State and
Federal level. 121 This included playing leadership roles in the HGSA and its activities in professional regulation and in government relations affecting medical genetics services.
The 1980s
The 1980s saw the worldwide expansion of prenatal diagnosis with new diagnostic and screening technologies (see Chapters four and five). It was also a time of significant increase in worldwide promotion of professional accreditation, especially by clinical geneticists seeking to improve their formal recognition in medicine. In the mid-1980s a workshop was held at an international human genetics conference to compare training requirements in fifteen countries (including the UK, Ireland, US, Canada, Australia, and
121 C8i1. Chapter three: disciplining reproductive choice page 171
the Soviet Union) (Fuhrmann 1987).122 Furthermore, during the 1980s audit became a new technique of government under Thatcher in the UK, Reagan in the USA, and other Western nations that adopted a neo-liberal model of health care services. The medical genetics arena—as for medical services as a whole—were threatened with cutbacks. Like genetic counselling, audit became a ‘technology of autonomy’ (Rose 1990). It combined devolution from overtly centralised government with a rhetorics of increased autonomy, thereby reinterpreting population regulation as government at the local level.
In the US the ASHG had decided in 1979 to establish accreditation of training programs and certification of individuals through a newly formed structure—the ABMG (American Board of Medical Genetics). From its beginnings, the ABMG was able to certify a diversity of professionals in the medical genetics arena—Master’s level genetic counsellors, PhD level medical geneticists (some at least of whom practised genetic counselling), clinical laboratory geneticists (with either or both scientific and medical training), as well as clinical geneticists who were thus able to gain recognition as a medical sub-speciality (Heimler et al. 1992: v; Reed 1980: 12-13). About five hundred professionals passed the first examination in December 1981 (President’s
Commission 1983: 36-37) . By the mid-1980s, the ABMG had certified about
400 clinical geneticists and 300 genetic counsellors, more than 200 in cytogenetics, and less than 100 each in biochemical and medical genetics
122 There was no international consensus on regulation of training of clinical geneticists. The UK required a total of seven years of postgraduate training, supervised by a subcommittee of a joint committee of the four Royal Colleges of Physicians; Sweden, Finland, the Federal Republic of Germany, and Australia required 6 years; Canada required 5 years; the US and the Netherlands required 4 years; whilst the Soviet Union offered a genetic training program of one year as an additional qualification for other specialities such as paediatrics or gynaecology (Fuhrmann 1987). Chapter three: disciplining reproductive choice page 172
(many of those certified in cytogeneticists and biochemical geneticists were also accredited in medical genetics). In addition, more than 800 technicians in cytogenetics had been certified by another professional organization
(Motulsky 1987: 7). Professionalisation of the medical genetics arena was well under way.
By the end of the 1980s clinical genetics professionals in the UK, working within an historically highly centralised government-regulated system, were fighting at the national level against threatened cutbacks that would affect them in the clinic (Clarke 1990b; Harper 1990; Harris 1990).
They mobilised professionally amongst themselves (through the Clinical
Genetics Society) and with their allies (through the Royal College of
Physicians of London Committee on Clinical Genetics) to investigate new audit systems for their negotiations with government ( Royal College of
Physicians of London 1991).123
In Australia, the HGSA (like the ASHG in the US) was the primary professional tool for disciplining professions in human genetics and the prenatal diagnosis package. One of the main issues for the HGSA has been accreditation, with the aim of regulating specialists and their activities in the medical genetics arena.124 Thus members paid early attention to the accreditation of genetic diagnostic laboratories—cytogenetics services initially—and of clinical genetics, closely followed by the regulation of
123 As part of the reform of the British National Health Service, these audit systems used a market-based model that favoured preventive medicine and the devolution of management of health services to hospitals and other local services through the regional health authorities (Harris 1990). The Clinical Genetics Committee has continued to be actively involved in negotiations with government. For example, see Harper, Hughes and Raeburn (1996.) 124 Letter to author from C. Kerr 6.6.02. Chapter three: disciplining reproductive choice page 173
prenatal diagnosis. 125 By 1981 a committee had been established to regulate prenatal diagnosis and causing controversy amongst members with its proposed policies for establishing levels of expertise and procedures for communicating results of tests.126 The HGSA established Boards of Censors to regulate the professional accreditation of its members.127 The Boards were set up to have similar authority to the ABMG in the US, although they have been structured within the organization rather than as a separate body. The HGSA began certifying members about three years after the ABMG began to do so.
Cytogeneticists were the first to be certified by the HGSA when, in 1984, sixteen members of the HGSA were first certified under a ‘grandparenting’ arrangement (‘HGSA Board of Censors Report for the Certification of
Cytogeneticists’ 1984).128 In 1985 the first exams were held for certification of cytogeneticists.129 Clinical geneticists were next when, in 1987, seventeen members of the HGSA became the first certified clinical geneticists under a
‘grandparenting’ clause.130 Most of the doctors I studied in this project were
125 In 1979 three major issues being investigated were genetic registers, neonatal screening, and accreditation of laboratories and staff in cytogenetics (members of the RCPA (Royal College of Pathologists of Australasia) had expressed concerns about work being done by private pathologists). The following year draft policy statements had been prepared for those issues, as well as for clinical genetics and prenatal diagnosis (minutes of the Annual General Meetings of the HGSA held 28.6.79 and 23.6.80; letter to author from C. Kerr 6.6.02). 126 Minutes of HGSA AGM 7.5.81. 127 Currently, there are five Boards of Censors (for cytogenetics, clinical genetics, genetic counselling, molecular genetics and biochemical genetics) and a combined Board to coordinate their activities (‘Boards of Censors’ 2001). 128 Grandparenting is a method for certification without examination that acknowledges, instead, an applicant’s existing skills and experience as being equivalent to that assessed by examination. 129 Minutes of HGSA AGM 27.8.85. The following year, Victorian cytogeneticists worked with their trade union—the Medical Scientists Association of Victoria—to successfully argue that the HGSA certified cytogeneticist accreditation was a higher qualification equivalent to the MSc level, and therefore gained a significant salary increase under the Hospital Scientists Award (‘HGSACC Recognised in Victoria’ 1986). 130 Minutes of HGSA AGM 13.5.87. The HGSA Board of Censors in Clinical Genetics comprised representatives of the HGSA and three other professional organizations, and proceeded to accredit clinical geneticists with primary qualifications in pediatrics, internal medicine, obstetrics and ophthalmology (Sillence 1998: 42). Chapter three: disciplining reproductive choice page 174 trained later than this, being what could be called the ‘third generation’ of clinical geneticists—those who were able to do their entire training and gain accreditation by their peers entirely in Australia.131 Other professional groups in the HGSA had to wait until the 1990s.
The HGSA’s commitment to lobby government on issues relevant to the medical genetics arena produced tangible results in the mid-1980s. It was then that the Minister for Health in South Australia (who had a friend with
Huntington disease—an hereditary neurological disorder) persuaded the
Federal coalition of health ministers to establish a committee to investigate medical genetics services.132 Soon after, a national policy on medical genetics services was established that, according to one medical geneticist, had a mixed reception:
(There had been) some people who were very opposed because they said the policy wasn’t good enough (but) the problem is that if you don’t have any policy you’re worse off than if you have a policy that doesn’t go far enough ... We haven’t quite played the system the right way ... (but) I think we have to recognise our limitations. And once you’re actually at the political coalface, it’s very hard. It’s a very fast-moving, risky game.133
The resulting national guidelines (SCOHM Super-Specialty Services Working
Party 1987) constructed a benchmark for measuring the need for medical genetics services in Australia. It was based on the claim that the country was greatly under-resourced with about 0.5 FTE (full-time equivalent) clinical geneticists per million population and required at least double that number.
The claim drew on UK recommendations to government that two FTE clinical
131 The first generation were those who established medical genetics clinics in Australia without gaining specific genetics training in Australia (and sometimes even without overseas training). The second generation were those who began their training in medical genetics in Australia, but underwent further training overseas. 132 C8i1: 70. 133 C8i1: 76-77. Chapter three: disciplining reproductive choice page 175 geneticists were required for a regional genetics service with a population of up to 3 million people (SCOHM Super-Specialty Services Working Party
1987: 11).134
In NSW an expert committee had existed since the 1970s to advise the
Department of Health on genetics and prenatal diagnosis within maternal and child health policy. That committee used the national guidelines to successfully argue in 1986 for coordinated policy on state-wide guidelines.
According to Morgan, the committee’s success was at least in part due to the influence of its departmental representative—Christine Bennett—who ‘had the ear’ of Peter Anderson, the Minister for Health at that time and had previous professional links with Morgan, as he had trained her in pediatrics.135 According to Morgan, the Minister had commended the effectiveness of the committee’s work and its report. 136 As a result, in 1987 a new committee dedicated to the medical genetics arena was established; its role was to advise the Department on planning and coordination of all medical genetics services throughout the State (NSWGSAC 1991: 3).137 Some of its members had prepared a preliminary report to the NSW Department of
Health earlier that year. They included four clinical geneticists who were very active members of the HGSA, and a paediatrician working within the
134 This, in turn, was consistent with a similar claim made ten years earlier by McKusick (McKusick 1975), who had recommended that one medical genetics centre should serve 1 to 3 million people. An earlier WHO recommendation appears to be much higher. It estimated that ‘one person with professional training in medical genetics will be required for every 200,000 persons’ (WHO 1969) 30. However, it is roughly equivalent if a person with ‘professional training in medical genetics includes a medical geneticist, a non-medically qualified genetic counsellor, and laboratory geneticists and technicians trained in cytogenetics and biochemistry. 135 These links extended into their private lives, in that he had attended her wedding where, according to Morgan, she had declared he was like ‘an extra father’ to her. 136 Interview with G Morgan 27.8.02. 137 The NSW Genetics Service Advisory Committee replaced the Genetics Services and Birth Defects Sub-Committee of the Family and Child Health Committee (NSW Health 1987: 4). Chapter three: disciplining reproductive choice page 176
Department of Health who had been trained by one of them (NSW Health
1987). The expert advisory committee that was subsequently established was dominated by clinical geneticists (8 of 12 positions) and, except for the departmental representative, all members were active in the HGSA. In 1987 dedicated funding began of a coordinated medical genetics service across
NSW that was shared between three existing medical genetics departments in
Sydney (a fourth in Newcastle was added in 1989) (NSWGSAC 1991: 6). It included the most significant increase so far experienced in Australia in the numbers of genetic counsellors.138 By the end of the decade there had been a
$2.5 million increase in funding of medical genetics services in NSW.
The 1990s to the present
While those in the US, European and Australian medical genetics arena were participating in the international networking of the human genetics discipline in the 1990s (see sub-section 3.4.1), different professional groups within the arena continued to regulate themselves nationally. The US led the way when, in 1991 clinical geneticists succeeded in gaining recognition as a specialty in their own right. The AMA allowed them to establish their own
College—the ACMG (American College of Medical Genetics)— in order to conform to the standard medical model of specialisation.139 The effects of this significant change on genetic counsellors and other professional groups are discussed further in sub-section 3.4.4. In the UK and the rest of Europe, clinical geneticists were critical of the slow pace of their professional
138 The clinical positions funded include 9 FTE medical geneticists, 4 medical genetics training fellows and 15 FTE non-medically trained genetic counsellors (NSWGSAC 1993: 2). Additional funding was provided for new staff for laboratory genetics services, including 14 in cytogenetics, 9 in molecular genetics, 3 in biochemical genetics and 1 in neonatal genetic screening. (NSWGSAC 1993: 20-21). Chapter three: disciplining reproductive choice page 177 recognition. By 1992 clinical genetics was formally recognised in only three
EC countries, and in ten out of a total of 22 European countries overall. As a result, professional regulation followed government’s lead in the growing movement towards European unification,140 when the ESHG recommended establishing a European-wide clinical genetics training program (Harris and
Rhind 1993: 147).
It should also be noted that the highly feminised composition of clinical genetics might have adversely affected its status. For female doctors, team- based medicine has been a popular career choice (Pringle 1998: 105, 140,
215-216). Clinical genetics, as a team-based medical discipline strongly allied with science, could still offer women higher status than other team-based specialisms such as geriatrics. Many clinical geneticists have first trained in pediatrics, itself a popular speciality for women in medicine. The apparently gender-appropriate focus on child health and promise of family-friendly working hours that pediatrics offers has been contradicted, however, by the competitiveness during training and later practice due to pediatrics’ relatively higher status (Pringle 1998: 105-106). Thus, genetics as a smaller and less competitive professional group may have drawn women from pediatrics to genetics. Other reasons could be it has attracted women who resist the
139 Their Canadian counterparts also gained recognition of clinical genetics as a primary specialty at that time (minutes of HGSA AGM 4.7.90). 140 For example, the Council of Europe was established in 1949, and over the next few years formed what is now known as the European Union (Europa 2002). Chapter three: disciplining reproductive choice page 178
gendered construction of science and/or pediatrics.141 The addition of the genetic counsellor as a team member in clinical genetics has made genetic counselling an even more feminised activity.
In Australia, the 1990s was a significant time for policies and practices directly concerning prenatal diagnosis. In 1997 the HGSA established a policy position on prenatal diagnosis (‘Policy statement on Prenatal Diagnosis’
1997), and this is discussed in Chapter 4. Controversies from the late 1980s about maternal serum screening programs (discussed in Section 5.3 in
Chapter 5) were met at first by a preliminary assessment in the early 1990s
(Robertson 1991) and at least partially resolved ten years later, when the
HGSA formed a joint committee with RANZCOG that finally established policy in 2001 (‘Policy Statement on Maternal Serum Screening’ 2001). The
1990s was also a time for the various disciplinary groups within the medical genetics arena to strengthen their power collectively through the HGSA,142 as well as by organizing separately within it. The ASC (Australian Society of
Cytogeneticists), the ASGC (Australasian Society of Genetic Counsellors), and the AACG (Australasian Association of Clinical Geneticists) formed—all as special interest groups within the HGSA—in 1994, 1996 and 1997 respectively
(Slater 1995; Colley 1997).143 Certification of genetic counsellors by HGSA’s
141 The women in this project who were training or working as clinical geneticists had a diversity of interests during their education—although they were streamed into the sciences because of their intellectual abilities, there were some who expressed a stronger interest in the arts. Some (eg, C30) told stories of gender wars during their general medical and pediatric training, whilst others spoke of none. Some (eg, C7, C10, C14, C30) were juggling childcare and other family responsibilities with greater or lesser experiences of difficulties. Some (C29, C33) had no children and expressed an interest in pursuing scientific research interests to specialise further in clinical genetics. Some (eg, C7, C14) had children and other demands competing with their medical work, yet also were working towards further specialisation in clinical genetics. 142 As a result of the many changes during the 1990s, the constitution of the HGSA was revised in 1999 (HGSA 1999). 143 The organizing of genetic counsellors is discussed further in sub-section 3.4.4. Chapter three: disciplining reproductive choice page 179 newly formed Board of Censors for Genetic counselling began in 1991 (see sub-section 3.4.4,). In 1995 the HGSA established other Boards of Censors to accredit professionals in molecular genetics and biochemical genetics
(Robertson 1995). When, in 2001, accreditation procedures for molecular genetics began (Richards 2001), it marked the full establishment of HGSA’s role in certifying professionals from all three scientific disciplines, as well as clinical geneticists and genetic counsellors.144
As disciplinary groups within the HGSA continued to negotiate boundary work and professional authority, tensions occasionally erupted into controversy. In 1992, when I began fieldwork for this research project, I observed heated discussion at the annual general meeting of the HGSA about training and certification of laboratory staff in cytogenetics and molecular genetics. This controversy expressed conflicts in professional authority between science and medicine within the organization, and in its relations with other professional organizations, over the assessment of quality of laboratory work. The laboratory scientists in the medical genetics arena eventually succeeded in establishing their scientific authority as the arbiter, when they reached agreement amongst themselves to form a joint quality assurance program within the HGSA (Hammond 2001).145
144 As described earlier, in 1984 cytogenetics had been the first professional group for which the HGSA had formed a Board of Censors, and clinical genetics followed in 1987. 145 Some members had expressed concern about HGSA’s negotiations with the RCPA to jointly run a quality assurance program (minutes of HGSA AGM 2.10.92). They were unsuccessful in the short term in preventing continued linkages with the RCPA, because of arguments in favour of a similar quality assurance program with the College of Paediatrics already had been established for newborn screening (Hammond 1993; Lam-Po-Tang 1993; McDonald 1993; Trent 1993; Webster 1993). In 1996 the RCPA QA program in cytogenetics was threatened when a member resigned (‘RCPA-HGSA QAP’ 1996). This may have provided an opportunity for all the different disciplines in laboratory genetics to join together to establish a joint quality assurance program within the HGSA itself (Hammond 2001). Chapter three: disciplining reproductive choice page 180
Also in 1992, about ten years after it had been recognised as a sub- specialty in the US and UK, clinical genetics was recognised as a subspecialty of internal medicine in Australia,146. As with their counterparts in the US and
UK (see above), most clinical geneticists (and those in training) in this project had previous training in pediatrics (a small number had trained in obstetrics and ophthalmology, for example). 147 Government funding has played a role in shaping this professional selection, as the Medicare reimbursement for longer consultations has been more readily available for pediatric than, for example, obstetric consultations.148 In 1994, the RACP took over the training program for clinical geneticists. By that year, 51 clinical geneticists had been certified by the HGSA (although only 39 were actively practising in Australia and New
Zealand) and there were 18 trainees (13 women and 5 men) (Sillence 1994).
After a two-year changeover period, the HGSA Board of Censors in Clinical
Genetics was dissolved, and all training since then has been through the
146 When the HGSA formed its Board of Censors in Clinical Genetics in 1987, it was with the aim of eventually becoming autonomous (Sillence 1998: 42)—an aim that their counterparts in the US achieved in 1991 (see sub-section 3.4.4). Assessment of the request for recognition of clinical genetics as a new medical specialty was made by NSQAC (the National Specialist Qualification Advisory Committee)—a government advisory body. In 1998 NSQAC was superseded by the AMC (Australian Medical Council), which had a broader remit of: accrediting Australasian medical schools, medical courses, and specialist medical training; assessing overseas trained doctors; and advising on the registration of doctors (Health Workforce 1999; AMC n.d.). NSQAC rejected the HGSA application for it to be recognised as a full specialty (Sillence 1998: 42). 147 They had a heterogeneous background before their training in personal knowledge of medicine, interest in sciences, and in socioeconomic class. Some had no other family members working in medicine (C10), although one (C30) had a grandfather who had been a distinguished surgeon and a father who had been unable to realise his ambition to work in medicine, and another (C29) had a female cousin who was a doctor. They reported a range of interests during their school years. Many had an interest in the humanities and arts (eg, C29, C30, C31), but at school all had been streamed into sciences such as physics and chemistry because of their scholastic ability and, for some, their already formed intention to study medicine at university. Some came from families with a low income so that they only were able to study at university from gaining a scholarship (C10, C29) and doing casual work to supplement their income (C29). 148 C1i1: 308. As an accredited medical geneticist, the proceduralist C5 could be reimbursed as a consultant physician for his genetic counselling. Chapter three: disciplining reproductive choice page 181
RACP (HGSA 1994).149 The training program currently comprises 3 years basic physician training, followed by 3 year advanced training in the sub- specialty (‘Royal Australasian College of Physicians’ 2002)—giving a total minimum training time for a clinical geneticist of about 13 years from entry into university.
In the mid-1990s, the medical members of the HGSA began to organize around a perceived opportunity for professional expansion.150 Cancer genetics was a ‘big opening for clinical geneticists, if they play their cards correctly,’ as they needed to ‘win over’ surgery and oncology in which genetic counselling was perceived to be ‘unnecessary and time wasting’ (Danks 1995: 8). If they succeeded, they estimated that twice as many clinical geneticists and three to four times as many genetic counsellors would be needed for colon and breast cancer alone (Danks 1995: 9). Thus the HGSA formed a new committee to examine future needs for genetics services in their negotiations with government and other health professions (Bankier 1994).151 In 1996 that committee translated its concerns into ones about genetic counselling, when it made a submission to the Federal government on the need for genetic counselling services (the government appeared to avoid acting, by referring it to a committee for consideration). The HGSA committee soon made another submission about genetic counselling and genetic testing (Bankier 1997).
More recently it participated in a government review of pathology services,
149 In 1996 the HGSA relocated its secretariat to the RACP from the RACOG, under an arrangement the College had established for a number of other small specialist groups within its disciplinary area (Goldblatt 1996). 150 Members in NSW led the way when, in 1993, they adopted the Canadian experience as best practice to recommend that clinical geneticist positions be trebled and genetic counsellors be doubled (NSWGSAC 1993: 29-35). 151 Later, in 1998, a Cancer Genetics Working Party was formed in the HGSA, which immediately began working with government and other medical, nursing and scientific professionals and community organizations (Tucker 1999). Chapter three: disciplining reproductive choice page 182 which gained recognition of HGSA qualifications, and has joined a peak body in planning of national public health genetics services (Bankier 2001: 3).
3.4.4. The genetic counsellor and prenatal diagnosis
What’s in a name? About twenty-five years ago I was foolish enough to get embroiled in a semantic argument about who should do genetic counseling and, by extension, to whom the term ‘genetic counselor’ should apply. To be quite explicit, I thought that it should apply to me! Well, have no fear—the term truly belongs to the genetic counselors as we now know them, health professionals extensively trained in both genetics and counseling. There is no question that they are the ones who are doing most, if not all of the genetic counseling in the United States and perhaps elsewhere as well. Where would those of us engaged in clinical genetics be without them? (Epstein 1998)152
In the early organizing efforts of the ASHG in the 1950s, doctors in the medical genetics arena described the organization’s heterogeneous professional membership as united in a ‘singleness of purpose’ (Kallmann
1952: 239). Over the next forty years some members occasionally warned doctors seeking greater professional power through accreditation as clinical geneticists that they might deprive the discipline of ‘the tremendous enrichment provided by the non-MDs’ (McKusick 1975: 269) and of ‘los(ing) the sense of common purpose that has prevailed’ (Epstein 1992: 233). The
‘non-MDs’ comprised largely the PhD scientist, who provided scientific authority to medicine’s position within the disciplines of human genetics and medicine. An expression of disciplinary power relations at that intersection between medicine and scientist has been for medicine to allow the PhD scientist limited access to the clinic to share in the practice of genetic
152 In the early 1970s Epstein—a medical geneticist at that time holding a professorial position in pediatrics and biochemistry—had been the centre of a controversy because of his views expressed at an early conference that genetic counselling should be done only by doctors (Epstein 1973), and because of his powerful position as Chair of the ASHG Committee on Genetic Counseling. Chapter three: disciplining reproductive choice page 183 counselling. The dynamics of those power relations have, however, seen medicine increasingly limiting access of the PhD scientist to the clinic as the doctor took over the role of genetic counselling (Kenen 1984: 543). Medicine used and retained its dominance in the clinic, gaining a monopoly over genetic counselling by a strategy of professional limitation.153 This strategy constructed the laboratory as the domain of the PhD scientist for producing scientific knowledge claims about human genetics (such as producing the karyotype for the doctor’s use in diagnosis and genetic counselling). By policing these boundaries of professional practice, medicine could maintain its monopoly over knowledge claims in the clinical space (including those made in genetic counselling).
The 1970s
Clinical genetics—as for a small number of other disciplines such as geriatrics, rehabilitation and palliative medicine (Pringle 1998: 105)—has placed a high value on working in teams with other health professionals since at least the early 1970s (Fraser 1974), although this has been more so in the
US than the UK (Farnish 1988: 392).154 Teamwork is an example of professional limitation by medicine’s monopoly in the clinic. The entry into the team of the Master’s level genetic counsellor in 1971 launched this new professional class into a struggle with medicine. As a result the genetic counsellor has contended with an ambiguous status in the clinic (Kenen
153 Willis (1983:125-161) has described how a strategy of limitation with respect to optometry supported medicine’s dominance in professional power relations in health care. 154 Members of a clinical genetics team can include clinical geneticists, genetic counsellors, genetics social worker, laboratory scientists and technicians from biochemical genetics, cytogenetics and molecular genetics, and other professionals according to specialised clinics (eg, prenatal diagnosis proceduralists, neurologists, pathologists, ultrasonographers, psychologists, nurses). They also include those in training for such professions. Chapter three: disciplining reproductive choice page 184
1984: 544) and professional limitation and subordination155—at times even exclusion—from the core activity of genetic counselling for which they were trained. When graduate genetic counsellors first entered the workforce, their hopes for a professional identity of high status were articulated in a WHO definition of their role, which included a counselling role,156 with even a shared diagnostic role with the doctor:
to assist the physician with diagnosis, to estimate the recurrence risk, to interpret this information to the patient in meaningful terms, and to help the patient to reach and act upon an appropriate decision (WHO 1972: 27).
On the other hand, in the clinic they were often designated as a ‘genetics associate,’ despite themselves preferring the higher status professional identity of ‘genetic counsellor’ (Kenen 1984: 544). For example, the clinical geneticist Fraser patronisingly described them as ‘auxiliary personnel’ who
‘provide invaluable service in interviewing, searching files and literature sources, collating information, and following up families’ (Fraser 1974: 652).
This ambiguity in status was an expression of the complexity of disciplinary power relations situated in differences of gender, class, colour and education.157
The first members of this new professional class graduated with a
Master of Science degree in 1971 from Sarah Lawrence College—a small
155 Willis (1983: 92-124) has described how subordination with respect to midwifery was an additional strategy for constructing medical dominance. 156 The ‘counselling’ role at the end of the WHO definition appears to be an early articulation of the psychosocial model of genetic counselling (ASHG Ad Hoc Committee on Genetic Counselling 1975: 240). 157 Early graduates were mainly well-educated, white, older women—often married to doctors and other professionals—whose children had grown up and thus felt free to look for part-time paid work outside the home (Rapp 1988a: 144). Recent graduates are more culturally diverse, younger, and give their work a higher priority than childbearing early in their careers (Rapp 1988a: 144-145). Chapter three: disciplining reproductive choice page 185 liberal arts educational institution with a strong feminist tradition, located in
New York (Kenen 1984: 543-544). The two-year course was set up in 1969 with funds from the US government’s Department of Health Education and
Welfare. Other funds came from private foundations, one being the March of
Dimes Birth Defects Foundation (Marks 1989: v).158 The small numbers at first (ten enrolled in the first class)159 had to create their own professional identity and negotiate salaries, job descriptions and institutional classifications (Rollnick 1984: 4). In the early to mid-1970s, soon after they had first entered the arena, they made up les than 10 percent of the genetic counselling workforce. The majority of those doing genetic counselling in the
US were medically trained (and mostly in pediatrics as described in sub- section 3.4.3). Genetic counsellors—together with nurses—made up less than
10 percent of the genetic counselling workforce. Those with a PhD qualification made a further 10 percent (Sorenson and Culbert 1979: 88-89).
The 1980s
Genetic counsellors quickly found a major role in genetic counselling about prenatal diagnosis. In a 1980 survey—almost ten years after they had first entered the medical genetics arena—three-quarters of the Sarah Lawrence graduates reported doing ‘pre-amniocentesis counselling.’ Even more were doing ‘follow-up counselling,’ taking a family history, and constructing a pedigree. Only one quarter of graduates had a primary role in ‘genetic
158 The idea for the training program has been attributed to Dr Melissa Richter, a physiologist and then Dean of the Center for Continuing Education at the College (Rollnick 1984: 3). Sources of funding for training of non-medically qualified genetic counsellors have been largely government-based, but range from health services to health sciences. For example, a meeting in 1979 of directors of training programs in genetic counselling was sponsored by the MCH (Office of Maternal and Child Health), whilst a similar meeting in 1992 was sponsored by the NIH Office of Human Genome Research) (Goldstein and Biesecker 1993). Chapter three: disciplining reproductive choice page 186 counselling’ (Marks 1979: 357). This new restriction on the meaning of genetic counselling—and by one of the very founders of the Sarah Lawrence
College course160—articulates the strength of medicine’s resistance to the challenge genetic counsellors posed to their power in the clinic. By re-naming genetic counselling when used with prenatal diagnosis as a ‘counselling’ activity, Marks (and others) could counter medicine’s resistance by playing with ambiguity to accentuate the practices of genetic counsellors with the science of psychology. The genetic counsellor could thus more easily be positioned in the clinic within a shared disciplinary space where medicine intersected with the sciences of both genetics and psychology.
By that time, genetic counsellors were challenging medicine by their increase in numbers and by organising themselves professionally. In 1980 numbers of genetic counsellors had grown sufficiently that they comprised 14 percent of the ASHG membership (Rosenberg 1981: 330-331).161 Significantly, they also had just organised themselves professionally into the NSGC
(National Society of Genetic Counsellors), which was founded in 1979.162 This was just in time to be allow them to be represented on the Board of Directors of the ABMG (Rollnick 1984: 5), which soon began to certify the diversity of professionals in the medical genetics arena—Master’s level genetic
159 Nearly thirty years later, there were more than 1500 genetic counsellors working in the US and Canada (Fine and Greendale 1998: 332). 160 In 1973, Marks—trained in psychiatric social work—introduced a major focus in the Sarah Lawrence training program on psychology and counselling skills. In 1976 the college introduced a course specifically based on Rogers’ client-centred theory, which was linked with a non-directive model (Marks 1993a: 19-20). In contrast, University of Colorado course has been located in the Department of Biophysics and Genetics, emphasising the sciences of physical and organic chemistry and biochemistry (Powledge 1979: 110). 161 This can be compared with the medical and PhD qualified members who were in about equal proportion (40 and 43 percent respectively) (Rosenberg 1981: 330-331). 162 The first meeting to discuss its formation was held in 1978 in New York City, and the first office bearers elected in 1980 (Rollnick 1984: 5). Rollnick was one of the founders of the first genetic counsellor course at Sarah Lawrence College, and of the NSGC (Rollnick 1984: 3). Chapter three: disciplining reproductive choice page 187 counsellors, PhD level medical geneticists (some at least of whom practised genetic counselling), clinical laboratory geneticists (some with medical training), and clinical geneticists (Heimler et al. 1992: v; Reed 1980: 12-13).
During the 1980s nurses in the US working in the medical genetics arena began to organise themselves as a profession separately. This led them to gain professional recognition by accreditation outside the ABMG, as their nursing training did not provide them with the Master’s level education required for admission to the ABMG training programs (Baker et al. 1998:
13). In 1984 the Genetics Nurse Network was established in the US, later expanding its potential domain when in 1988 it became ISONG
(International Society of Nurses in Genetics). The professionalisation of genetics nurses has had aims beyond the practice of genetic counselling practices, exerting expansionist power relations as a specialty within the nursing discipline as a whole. Thus, although it has members who are genetic counsellors, it promotes its work in genetic health care as a ‘nursing specialty,’ and claims that it ‘has now become evident to the nursing community, every nurse is involved in the provision of genetic health care’
(Jones 1995).
In 1989— almost ten years after its formation—the NSGC had about
1,000 members, and numbers of graduates were predicted to double by 2002
(Smith 1993b: 197).163 Genetic counsellors and their professional organization
163 During this time genetic counsellors had organised four national conferences about their education and clinical training (Baker, Schuette, and Uhlmann 1998: 15). Sarah Lawrence was still the largest training program but nine others had joined them in the US and Canada. The College recently claimed that it has trained half of the genetic counsellors in the US (Sarah Lawrence College n.d.). Genetic counselling courses generally comprise a 2- year curriculum of genetics theory, counselling theory and practice, and clinical genetics practice (Smith 1993a: 225), although Sarah Lawrence College has emphasised counselling skills in its training, compared with some other programs in the US. Chapter three: disciplining reproductive choice page 188 were becoming a significant force in terms of numbers, especially if NSGC membership was compared with the total membership at that time of about
4,500 for the ASHG (Smith 1993a: 230)—previously its only means for organizing professionally. During those ten years since the NSGC had formed, the ABMG had accredited genetic counsellors in numbers almost equal to diplomates in clinical genetics (630 and 660 respectively) (Smith
1993a: 227). The power of clinical geneticists to limit entry of genetic counsellors into the genetic counselling clinic appeared to be weakening in the US.
From the time that genetic counsellors began to enter the clinic in the early 1970s they have not gained as strong a position in the UK as has been the case in the US. Nurses have largely filled some of that role, under a range of job titles (a large number having previously worked as nurse/health visitors). Their status in the clinical hierarchy however appears to be lower than that attained by the genetic counsellor in the US, and more comparable to the description given earlier of the non-medically trained ‘auxiliary personnel’ in the early 1970s medical genetics team in the US (Fraser 1974).
Clinical geneticists in the UK have monopolised genetic counselling (or, rather, that which they identify as ‘genetic counselling’), and have indicated a preference for employing nurses in their clinics (‘Report of the Clinical
Genetics Society Working Party on Regional Genetic Services’ cited in
Farnish 1988: 392). For example, a respected medical geneticist in the UK has contined since that time to describe work done by non-medically qualified (and mainly female) health professionals in the genetics clinic as providing ‘back up to genetic counselling’ done by the doctor, which involved discussing ‘other matters with the family after the consultation’ (Harper Chapter three: disciplining reproductive choice page 189
1981: 17; Harper 1999: 15). Another UK medical geneticist described a further role for such workers as a ‘prelude’ to genetic counselling. ‘Prelude’ work—as for ‘back up’ work— was considered suitable for the nurse, health visitor social worker, psychologist and ‘genetic assistant’ (Skinner 1983: 1434). Such views use (and reinforce) a non-directive model of genetic counselling, placing it within the boundaries of medicine’s monopoly and excluding the marginalised work of non-medical professionals, whose counselling to manage psychosocial factors is constructed as work of lower status and external to genetic counselling.
Non-medically trained health professionals who do genetic counselling in the UK have been fewer in number and more isolated than in the US, often the only member of a genetics team without a medical degree (Farnish 1988:
392). In 1980, the year after the NSGC was established in the US, they began to organise—forming the Genetic Nurses and Social Workers Association
(Farnish 1988: 392).164 By the mid-1980s a survey of its members found that less than half did ‘genetic counselling,’ and only when diagnostic skills (the monopoly of medicine) had been excluded (Farnish 1988: 394).165 The majority of their work articulated a professional boundary between ‘scientific’ medicine and ‘caring’ nursing. As all respondents were female and most were nurses (Farnish 1988: 392), this view articulated gendered boundaries within
164 The joint organising of genetic nurses and social workers could be evidence of an apparently greater cohesion amongst the range of non-medical professionals who work in medical genetics in the UK. It also may be due to power relations already established between the two professions, which have worked together in the health care system for some considerable time. 165 In particular, genetic counselling for ‘advanced maternal age’ prenatal diagnosis has been recommended by some UK medical experts as work for the health visitor or nurse in the clinic (Modell and Modell 1992: 181-185). Presumably, it is these experts’ specialisation in genetic screening and reproductive health and their concerns about workforce supply not meeting anticipated demand that enabled them to delegate genetic counselling for such restricted applications. Chapter three: disciplining reproductive choice page 190 medicine and in wider societal expectations about traditional gender roles.
They also gave counselling for bereavement (such as before a patient’s clinic visit to the clinical geneticist), observed client emotional responses and acted as an advocate during a clinic visit, and gave emotional support after a clinic visit (Farnish 1988: 393-394). Such a division of labour continued to articulate a professional division of labour over different parts of the body to be governed: a genetic body for medicine and an emotional body for the genetics nurse or social worker. They experienced an ambiguity in their work, as have genetic counsellors in the US, being expected to perform a range of other administrative, educational and research tasks.166 In the clinic, they performed parts of medicine’s traditional diagnostic role by collecting pedigrees and other information (Farnish 1988), but the authority of diagnosis itself remained with the clinical geneticists.
A more detailed understanding of the social relations of professional regulation and prenatal diagnosis can be gained from examining Australian activities. In Australia in the 1980s, one of the early activities of the HGSA was to promote genetic counselling centres to doctors Australia-wide.167
Medicine asserted a monopoly over genetic counselling through the HGSA when the association’s Clinical Genetics Working Party made an early decision that the newly accredited cytogeneticists were not qualified to do genetic counselling independently.168 However, when challenged by a
166 Farnish (1988: 392) ascribes this ambiguity in terms of the lack of formal training, but this is contradicted by the US experiences of trained genetic counsellors already described. 167 An early list of genetic counselling centres was published in the Australian Family Physician, but fast went out of date (minutes of HGSA Council meeting 22.5.83). 168 Their statement was a response to a ‘criticism’ their medical colleagues in pathology raised via the RCPA (minutes of HGSA AGM 23.5.83). Chapter three: disciplining reproductive choice page 191
cytogeneticist (Webb 1989),169 the HGSA established a new working party on genetic counselling in 1986 that included the cytogeneticist but was led by
Les Sheffield, a clinical geneticist.170 There were no other non-medically qualified members with experience in genetic counselling on the working party until a year later. In 1987 Graham Webb (the cytogeneticist) resigned and was replaced by Kristine Barlow, who had a PhD in plant genetics and had gained clinical skills in genetic counselling and genetic education.171 The working party prepared a draft policy that was agreed to in principle at the
1988 HGSA AGM, subject to recommendations that the Board of Censors have non-medically qualified members with training and experience in genetic counselling.172 The policy was re-drafted, published in the organization’s newsletter in 1989 (HGSA 1989), and approved at the AGM that year. A Board of Censors for Genetic Counselling was established at that meeting in July 1989, and members included Kristine Barlow and Margaret
Sahhar (a genetics social worker). However they were a minority with the other members who were three clinical geneticists: Les Sheffield (the Chair),
R. J. M. (Mac) Gardner (a clinical geneticist in Dunedin, New Zealand) and
Eric Haan (representing the Board of Censors for Clinical Geneticists—as
Vice-President of the HGSA, he was an ex officio member).173
169 Graham Webb was a scientist working with the Human Genetics Group in the John Curtin School of Medical Research at the Australian National University, Canberra. 170 Les Sheffield worked at the Murdoch Institute at the Royal Children’s Hospital in Melbourne (minutes of HGSA AGM 9.5.86). Webb pointed out that the highly respected cytogeneticist Grant Sutherland, who had been ‘an active genetic counsellor for years,’ would have been perhaps a more suitable person to chair the working party (Webb 1989). 171 Minutes of HGSA AGM 13.5.87. 172 Minutes of HGSA AGM 5.7.89. The HGSA members who made the recommendation were social workers working in clinical genetics in Sydney—Fiona Richards and Mary van den Berk (Minutes of meeting of AASW (NSW Branch) Working Party on Genetic Counselling of 8.2.89; Minutes of HGSA AGM 18.5.88). 173 Minutes of HGSA AGM 5.7.89. Chapter three: disciplining reproductive choice page 192
The HGSA policy on the training of genetic counsellors was styled on the US system of training and accreditation set up by the ABMG (HGSA
1989: 7). The genetic counsellor was seen as an additional specialised but professionally limited member of a clinical genetics team (their certification would not allow them to practise independently of a clinical geneticist). A flexible list of duties was set out, which included organization of genetics clinics, intake sessions before the diagnostic visit (this, presumably, covered genetic counselling about prenatal diagnosis), follow-up after the clinic, and responsibility for documentation (including pedigree taking and recording psycho-social and economic factors, apparently collected during the intake session). An initial genetic counselling session (presumably this would include one before prenatal diagnosis) could be done alone or with the clinical geneticist. Other specialised areas of work for genetic counsellors could include screening programs for specific disorders, DNA testing programs, research, genetic education and promotion, and working with genetics support groups. A recommended salary scale was at the equivalent of a hospital scientific officer educated to at least Master’s level—science was relatively well-remunerated in hospital systems—although their prior training could be in a range of disciplines under various awards, such as psychology, social work, nursing, education, or science. Applicants for certification were to have the equivalent of an undergraduate degree, and training would follow the general requirements of the ABMG in the US, in two equal parts with each equivalent to one-year full-time participation. The first part was educational (attendance at courses—to be determined individually—such as in genetics science, interview techniques, counselling, Chapter three: disciplining reproductive choice page 193
crisis care), 174 and the second part required on the job training while employed at a clinical genetics unit. The policy recommended that HGSA- certified genetic counsellors later replace many of the clinical geneticists initially appointed to the Board of Censors for Genetic Counselling. However, medicine retained its professional power of limitation by maintaining some representation by clinical geneticists on the Board (HGSA 1989).
Later in 1988, after HGSA members had agreed in principle to the draft policy on the training of genetic counsellors, the number of genetic counsellor positions in Australia threatened to increase dramatically as a result of the
New South Wales government’s impending action to significantly increase funding and reorganise medical genetics services in that state (described in
Section 3.4.2). 175 Kris Barlow, a genetic counsellor and member of the HGSA working party on genetic counselling, wrote to the NSW Branch of the AASW
(Australian Association of Social Workers) for advice about future training of genetic counsellors. The AASW responded by setting up its own working
174 In an interview, a clinical geneticist noted the difficulties he, and others, had experienced in establishing a Master’s level genetic counselling course in Australia. Unlike in the US, the smaller population and high costs appeared to make it impossible (C8i1: 80-84). However, in the 1990s four universities have established a range of genetic counselling courses, despite limited immediate employment prospects for their graduates. In Victoria a Graduate Diploma is offered by the University of Melbourne’s Department of Paediatrics in conjunction with the Murdoch Children’s Institute and the Genetic Health Services Victoria (University of Melbourne 2001). In New South Wales there are two universities offering courses. The Faculty of Health at the University of Newcastle offers three courses: a Graduate Certificate, Diploma and Masters of Genetic Counselling (University of Newcastle 2002). In the Faculty of Health Studies at Charles Sturt University there is a two-year part- time distance education Graduate Diploma that meets the requirements of Part I of HGSA accreditation of genetic counsellors. The Graduate Diploma can be followed by a one-year research degree for a Master of Health Science. Enrolment is through the Wagga Wagga campus (Charles Sturt University n.d.). In Queensland, the School of Biomolecular and Biomedical Science at Griffith University offers a one-year full-time or two-year part-time M.Sc in Genetic Counselling, which can be followed by a M.Sc. (Hons) degree (Griffith University 2002). 175 An early genetic counsellor position (filled by a male nurse at an outreach clinic) was established in 1987 in the Community Health Centre at Tamworth in New South Wales. By 1991 the State government had funded sixteen new FTE genetic counsellor positions (about half were in one of the four major genetics clinics and half in outreach services) (NSWGSAC 1991: 8). Chapter three: disciplining reproductive choice page 194 party on genetic counselling, chaired by Fiona Richards (a social worker at the Huntington’s Disease Unit at Lidcombe Hospital, Lidcombe, in Sydney, and who worked closely with genetics health professionals).176 The working party members had concerns that genetic counsellors be trained adequately in counselling skills, constructing social workers as the norm who would make the “ideal” genetic counsellors.’177
The AASW identified problems in the ‘confusing and inaccurate term genetic counsellor,’178 which I have described above in terms of ambiguities experienced by genetic counsellors in the clinic. Its working party met twelve times between February 1989 and June 1990, and once jointly with representatives of the NSW GSAC (NSW Genetics Service Advisory
Committee).179 During this time, it also liaised with members of the HGSA working party on genetic counselling (and, after its formation, with the Board of Censors for Genetic Counselling), in particular to negotiate the optimal level of counselling skills required. The AASW working party initially sought a requirement for a high level of counselling skills, in which case the positions would be considered best filled by social workers. However, the
HGSA and GSAC representatives argued that genetic counsellors needed both genetics and counselling knowledge and skills. Since most applicants would not have both, training should be made available in both, to complement other training already achieved. All agreed that genetics social worker
176 The working party comprised social workers from major teaching hospitals in Sydney, who were working in the disciplines of obstetrics and pediatrics and/or with specific genetic disorders such as Duchenne muscular dystrophy, cystic fibrosis and Huntington’s disease . 177 Minutes of meeting of AASW (NSW Branch) Working Party on Genetic Counselling of 8.2.89. 178 Minutes of meeting of AASW (NSW Branch) Working Party on Genetic Counselling of 17.5.89. 179 Minutes of meetings of the AASW (NSW Branch) Working Party on Genetic Counselling from February 1989 to June 1990. Chapter three: disciplining reproductive choice page 195 positions also were needed to deal with patients’ counselling issues specific to medical genetics.180
In 1989, Fiona Richards presented a paper at the HGSA annual scientific meeting on the role of the genetic counsellor, in terms of the debate about definitions of genetic counselling (Richards 1989). Controversy over her paper appears to have stimulated the social worker member of the newly formed HGSA Board of Censors for Genetic Counselling (Margaret Sahhar) to make contact with the AASW working party.181 Further correspondence between the HGSA Board and the AASW working party negotiated agreement on counselling content in the training and work of a genetic counsellor, and their on-going supervision.182 Shortly before the AASW working party disbanded in June 1990, Fiona Richards joined the HGSA NSW Branch
Committee to continue to collaborate on training of genetic counsellors.183 At the HGSA annual scientific meeting in May 1990 Margaret Sahhar presented a paper on the respective roles for the genetic social worker (‘as a counsellor’) and the genetic counsellor (as a member of ‘a multi-disciplinary team (with) an awareness and understanding of the roles of other disciplines’) (Sahhar
1990).
Thus, in Australia, the genetic counsellor arrived largely as a result of regulatory power relations between medicine and government, and between
180 Minutes of meeting of AASW (NSW Branch) Working Party on Genetic Counsellors with representatives of the GSAC on 12.4.89. Nevertheless, by 1991 the GSAC had prioritised genetic counsellors in their distribution of new government funding to 16 genetic counsellor and one social worker positions (NSWGSAC 1991: 8). 181 Letter from M Sahhar, at the Victorian Clinical Genetics Service, to Fiona Richards, Convenor of the AASW (NSW Branch) Working Party on Genetic Counselling dated 21.7.89. 182 Various correspondence and minutes of meetings of AASW (NSW Branch) Working Party on Genetic Counselling. 183 Minutes of meeting of AASW (NSW Branch) Working Party on Genetic Counsellors on 13.6.90. She more recently chaired the HGSA Board of Censors for Genetic Counselling (‘Boards of Censors’ 2000). Chapter three: disciplining reproductive choice page 196 professional classes within the medical genetics arena. Professional power relations were resolved in favour of medicine’s continuing monopoly in the clinic. That monopoly allowed further segmentation of the medical genetics arena through limited access by the new profession of genetic counsellor in addition to that already granted to the social worker. Furthermore, genetics science was mobilised to prevent social work from expanding its professional boundaries further into genetic counselling, although social work has been able to limit the professional power of the genetic counsellor through representation on committees with professional regulatory authority.
The 1990s to the present
While genetic counsellors in the US were invading the genetics clinic and prenatal diagnosis genetic counselling, clinical geneticists had been pursuing a more powerful position within the discipline of medicine itself. When the
ACMG formed in 1991, it and the ABMG were required by the US medical authorities to exclude from membership those educated only to Master’s level
(such as most genetic counsellors).184 Those who did qualify for membership of the ACMG gained representational access to the politically powerful AMA
(American Medical Association). This included PhD trained laboratory geneticists who benefited from expansion of their professional boundaries deeper into medicine’s domain. This stronger intersection between medicine and genetics science was articulated in the ACMG publishing its own specialty journal—Genetics in Medicine—and taking over the regulation of laboratories in the medical genetics arena (ACMG n.d.). The latter allowed
184 (Male) medicine dominates amongst the ACMG Executive. For example, in 1999-2000 there were twelve doctors (four who also had a PhD) and only three with a PhD only. There were only 2 women of a total of 15 Officers and Directors (ACMG 1999). Chapter three: disciplining reproductive choice page 197 medicine to further limit genetics science professionally and strengthen the professional power of clinical genetics.185
Thus the medical genetics arena became more firmly segmented professionally, Clinical genetics abandoned the ASHG—the organization that had been instrumental in setting up the ABMG—and changed the role of the
ABMG. Most importantly, medicine excluded genetic counsellors from the
ABMG. Accreditation of non-medically trained genetic counsellors was transferred to the newly formed ABGC (American Board of Genetic
Counseling), constituted in 1993.186 In an early response to these changes, genetic counsellors expressed their deep concerns about the loss of diversity within medical genetics.187 Some genetic counsellors188 argued that their exclusion meant a loss to clinics of their expertise in counselling, to their professional organizations, such as the ABMG and the ASHG,189 and to the training of medical and other professionals. Their sense of professional betrayal (and, possibly, also betrayal of perceived gender-based solidarity) was expressed in concerns that some members of the NSGC had participated in the restructuring process at the request of a clinical geneticist, Dr Anne
185 The ACMG continued to use the ABMG for its training programs, as ABMG- certification was required for membership of the ACMG. By 1999 doctors specialising in clinical genetics formed the largest group that had been certified by the ABMG since its beginning (1,000 in total), almost double the number of cytogeneticists (522) (ABMG 2000). 186 Nevertheless, the ABMG jointly supervises the general medical genetics component of their training (ABGC 2002). 187 The Editor of the journal that published their paper was Charles Epstein (quoted at the beginning of this section), who again became embroiled in controversy because of his support of the professional reorganisation of medical genetics (Epstein 1992). 188 The primary author—Heimler—was a student in the first genetic counsellor course at Sarah Lawrence College, later becoming the first president of their professional association—the NSGC (Rollnick 1984: 4). 189 They complained that their only avenue of professional organization—the newly formed COMGENS (Council of Medical Genetics Societies)—did not have the power of policy making held by other organizations. They were concerned that they would be excluded ‘from the mainstream of medical genetics power bases’ and ‘restructuring will foster their isolation in the medical genetics community’ (Heimler et al. 1992: vi). Chapter three: disciplining reproductive choice page 198
Spence, President of the ABMG, without consulting the wider membership
(Heimler et al. 1992: v-vi). Divisions amongst genetic counsellors healed, however, as many who had originally opposed the changes later came to judge them as having been professionally worthwhile (Kenen 1997: 1380).
Moreover, at the time of the reorganisation of the ABMG, the NSGC was engaged in other professionalisation strategies that would increase its membership but, ironically, further segment and reinforce a workforce hierarchy within medical genetics. It sought to add a lower rung in an expanded hierarchy for the career trajectory of genetic counsellor, by setting up programs to train ‘genetic assistants’, supervised by a Board-certified genetic counsellor. These positions would target specific cultural and language client groups, where the genetic assistants was allowed to do some genetic counselling, but did not need education to Masters level, (Dixson,
Dang, Cleveland, and Peterson 1992). Similar positions (eg, single-gene counsellors/ educators, and genetic interpreters) had been already established for specific categories of genetic disease (eg, sickle cell abnormalities and thalassemia) (Smith 1993a: 221).190 Since then, genetics nurses—a much smaller professional group than genetic counsellors (with just over 200 members of ISONG in 1997)—have successfully negotiated recognition of the genetics nurse as a nursing specialist in the US
(Williams 1997). Thus, genetic counsellors and genetics nurses appear to be following similar paths for specialisation and accreditation in their disciplinary exclusion from medicine. However, nurses have more readily
190 Such political differences between genetic counsellors—a female-dominated profession—are an expression of similar differences amongst women more generally. The critique by Heimler et al (1984) articulates a feminist position that would have been supported in at least her training at Sarah Lawrence College. Chapter three: disciplining reproductive choice page 199 pursued the PhD as part of a career trajectory, as a means for using knowledge to gain professional status, than have genetic counsellors who tend more towards concentrating their professional status on their clinical activities rather than their knowledge base (Kenen 1997: 1381).
The first Master’s course for genetic counsellors in the UK started in
1992, and is located at the Graduate School of Science, Engineering and
Medicine at the University of Manchester (n.d.)191—23 years after the first course began in the US. Another has since been established in the UK, in conjunction with the Institute of Medical Genetics and located at the
University of Wales (n.d.). It was only in 1995 that non-medically trained health professionals doing genetic counselling in the UK organised professionally, 16 and 11 years respectively after genetic counsellors and nurses organised in the US. Unlike in the US, however, a coalition formed between genetic nurses and genetic counsellors when they established the
AGNC (Association of Genetic Nurses and Counsellors). Also unlike the US precedent, they formed as an interest group, rather than as an autonomous organization, within the BSHG (British Society of Human Genetics), which was established relatively recently in 1996 (BSHG n.d.). The group’s first major strategy was to establish a professional career structure because of the diversity of industrially recognised awards under which members worked.
Whilst most are trained nurses, their salary scales vary across different genetics centres. Others include many classified as clinical scientists but, again, there is wide geographical variation. In 2001 the AGNC planned to
191 A genetic counsellor visiting Australia from the UK at the time I was doing fieldwork thought that the Manchester University course had started in about 1992 (G26i1: 204-208). Chapter three: disciplining reproductive choice page 200 start a training program for genetic counsellors, and to standardise accreditation between genetic nurses and genetic counsellors (AGNC n.d.).192
In 1997 the HGSA produced a policy document on prenatal diagnosis with extensive recommendations (Sheffield 1997), which included the recommendations that at least one specialised prenatal diagnosis service should be established in each State and that staff include a ‘genetic counsellor or nurse specialising in prenatal diagnosis’ and a ‘clinic coordinator.’ Thus some of the genetic counsellor’s duties (clinic coordination and counselling) were broken up and able to be allocated to other professions, specifically including nurses. At the beginning of that decade—in 1991—the HGSA began to certify genetic counsellors.193 This was ten years after the ABMG had set the precedent, although in Australia the certifying board was not a separately incorporated organization (Heimler et al. 1992: v) but one located within the professional association. Genetic counsellors in Australia also began to organise themselves nationally in the early 1990s. The increase in numbers of genetic counsellors in NSW (see sub-section 3.4.3) appeared to act as the catalyst in the formation of the ASGC (Australasian Society of Genetic
192 To enter the UK training program, graduate nurses were required to have a minimum level of nursing and counselling skills. Those from outside nursing needed to have graduated from a discipline deemed to be ‘related to clinical genetics’, such as genetics, biology, psychology or sociology, in order to undertake a Master’s level degree in genetic counselling. They were also required to have ‘experience of caring work, either paid or voluntary’ (AGNC n.d.). 193 The HGSA published a draft policy for certification of genetic counsellors at the end of the 1980s. Five people applied for accreditation but none were judged sufficiently skilled to be ‘grandparented.’ Guidelines were published in 1990, and the first were accredited in 1991 (‘Board of Censors for Genetic Councillors’ 1991). Two of the genetic counsellors I interviewed were the first: one (G14) had a PhD in agricultural genetics (wheat breeding) followed by extensive experience in genetic counselling and education; the other (G19) had extensive training and work experience in nursing and medical genetics, and was completing an honours degree in psychology. The third was the only man in Australia doing genetic counselling without medical training (he was a trained nurse), but I was unable to interview him as he worked in a distant country location (‘HGSA Board of Censors for Genetic Counselling’ 1992). Chapter three: disciplining reproductive choice page 201
Counsellors). Unlike their US counterparts who organised a separate professional association, however, the ASGC followed their UK counterparts by becoming incorporated within the existing national human genetics professional organization. The ASGC became a special interest group of the
HGSA in 1996 (Elber 1996).194 In NSW the increase in genetic counsellor positions from none in the mid-1980s to 16 full-time equivalents in 1991 saw about half located in the four major genetics units (NSWGSAC 1991: 8).195
The NSW government’s increased funding of medical genetics services in that
State, thus, would have had a significant impact on genetic counselling about prenatal diagnosis as the major genetics units were the major provider of this service.196 It was also in the early 1990s that the HGSA agreed on nomenclature for non-medically trained genetic counsellors: those in training were to be known as ‘associate genetic counsellors’ and those who had HGSA certification would be ‘genetic counsellors.’197 Elsewhere, job prospects seemed limited (HGSA 1991a), although by the end of the 1990s those
194 Early evidence of genetic counsellors organizing publicly in Australia is their newsletters. GC—a newsletter for genetic counsellors in NSW—was established in October 1990 and, in 1991, it became Linkage—a national newsletter (Rae and Latham 1990, Latham and Rae 1991). Also in the early 1990s, genetic counsellors circulated a questionnaire amongst themselves that identified a need for a national association. A working party was formed and consulted with the President of the HGSA, who recommended they become a special interest group within the HGSA (diary HGSA92GCMeeting: 2-11). At a meeting of genetic counsellors that I attended just before the 1992 HGSA annual scientific meeting, the working party recommended that they form a national association within the HGSA, because it was a ‘well established lobby group’ already. The meeting accepted this and organised elections for office-bearers of their first committee. One of its first tasks was to begin negotiations to be recognised as a special interest group within the HGSA (diary HGSA92GCMeting: 11-56), and a formal request was made in 1994 (minutes of HGSA Executive meeting 29.7.94). This could not be done until 1995, after the HGSA constitution had been amended (minutes of HGSA Council meeting 12.3.94), and the ASGC began reporting to the HGSA membership in 1995 (Elber 1995). 195 The other eight full-time equivalent positions were located in regional and country areas to service outreach services (NSWGSAC 1991: 8). The outreach genetic counsellors had little time to do genetic counselling about prenatal diagnosis, instead referring people on to the major clinics. 196 The increase in funding for clinical genetics services also included four training positions for clinical geneticists, who did genetic counselling about prenatal diagnosis as part of their training (NSWGSAC 1991). Chapter three: disciplining reproductive choice page 202 responsible for training and those applying to train both expressed increasing optimism (Young 2001).198
Very little research has been done on health professionals doing genetic counselling in Australia. Of the ten people I interviewed who did genetic counselling without having been trained in medicine, all were women. Six had previous training in nursing, and another four in science (two had PhDs in genetics—one an honours degree majoring in biology and psychology, and one a university degree in genetics after a previous technical degree).199 Three of them worked in the three clinics I observed in this project—one was at the beginning of her training (G15), another in the middle (G6) and the third at the end (G3) of her training. Both genetic counsellors and medical geneticists
197 Minutes of HGSA AGM 23.9.93. 198 In 2001, eight people submitted to pass Part 1 of the training program, and 30 submitted for Part 2 (Young 2001). 199 The two genetic counsellors whom I was able to observe doing genetic counselling (G3 and G6) did not represent the majority interviewed, as both had previous education and work experience in hospital science. Major differences between the two were in age, culture, and other education. G3 had taken up her genetic counsellor position two and a half years before, having originally trained and worked for about twenty years in hospital science (including cytogenetics), and raising a family at the same time. At the age of 39 years she began a university degree in psychology and later was successful in her first application for a genetic counsellor position, which was the one she currently held. When I interviewed her, she had completed her psychology degree, and was nearing completion of a two-year psychotherapy course at the same time as nearing completion of her genetic counsellor certification, and all whilst working full-time as a genetic counsellor (G3i1: 11-12, 31; G3i2: 199). G6 (who was about 20 years younger) came from a migrant family of non-English speaking background. She found work in cytogenetics soon after finishing her B.Sc degree, where she had developed an interest in genetics. At school she had developed a strong interest in biology, chemistry and maths, despite a lack of a similar interest among her siblings and school friends. Her parents had little education before they had migrated to Australia. Soon after graduating from university she had applied unsuccessfully for a genetic counsellor position. She soon found work in cytogenetics and later undertook a two-year counselling course, which she had heard about from a genetic counsellor in training who was doing it for her HGSA accreditation. By the time she applied for a second genetic counsellor position—this time successfully, as it was the one she currently held—she believed she ‘knew a bit more about genetics than your average cytogeneticist working in the run-of-the-mill lab.’ At that time, she had already applied to begin the HGSA certification training, had observed some genetic counselling clinics, done some courses on fetal pathology, and specialised in prenatal cytogenetics including assessing CVS samples for testing. She was still undergoing her training as a certified genetic counsellor (G6i1: 8, 58-59, 91-93, 115, 170, 198- 199, 376-381). Chapter three: disciplining reproductive choice page 203
(or those in training for those positions) did genetic counselling about prenatal diagnosis. In the two clinics served by genetics units, workload allocation of clients who were women of ‘advanced maternal age’ was preferentially allocated to genetic counsellors, then clinical genetics fellows in training and, lastly, the supervising medical geneticist200. Genetic counsellors called in a doctor to discuss diagnoses, effects of medications and other issues they judged to be ‘medical.’201
In interviews, informants described a division of labour in terms of two forms of genetic counselling—determined by medicine’s monopoly in diagnostic work—both used to govern a genetic maternal body. The first form was genetic counselling for women of ‘advanced maternal age,’ described as lacking ‘complex genetic issues’ that doctors found ‘interesting.’ It was a
‘routine’ and ‘easy’ form of genetic counselling suitable for genetic counsellors (as they could feel ‘confident’ doing it), for training them and clinical geneticists, and ‘to stay in touch with the common questions and the common issues for people’.202 Most of the health professionals in this project expressed a high commitment to medical genetics and were educated in genetics to an undergraduate tertiary standard. The two genetic counsellors I observed shared a background in education and work experience in hospital science, and in education and training in counselling and/or psychology.
Although it might take a minimum of five years to become a certified genetic counsellor, all those I met had had extensive education and other training
200 C3i1: 282-288. However, the division of labour between clinical geneticists and genetic counsellors was flexible and open to negotiation because of limitations of clinic time and staff numbers. 201 However, I once observed a genetic counsellor provide a reassuring diagnosis about the risks for a family history of Down syndrome (G6; G6U7W-G6C10: 278-286). 202 G3i: 70-72; C10i1: 274; C1i1: 83. Chapter three: disciplining reproductive choice page 204 before embarking on the two-year certification process. Following the ABMG example (HGSA 1989), the focus in genetic counsellor training has been on the communication of genetics science. This is exemplified in the HGSA’s policy on their certification, which requires that they have completed an undergraduate university degree or its equivalent, before undergoing genetic counsellor training for a minimum of two years in genetics theory, counselling theory and practice, and interview techniques’ (HGSA 1991a).203
Australian doctors doing genetic counselling would have had a minimum of 6 years specialist training in addition to about 7 years undergraduate study and hospital internship in order to become a certified clinical geneticist.
According to one of the fellows in training, their medical education and training was sufficient, and they did not need to do formal courses in counselling because they already had gained ‘background’ knowledge, after
‘spend(ing) years counselling patients—making treatment decisions, plans of action, discuss(ing) it with people.’204
Time appeared to be a dominant constraint on the health professionals I observed in the field. Both medically and non-medically trained workers who did genetic counselling led very busy working lives. Like their counterparts in the US and UK, work duties for genetic counsellors in this project included genetic counselling,205 clinic coordination,206 administration, participation in research projects, genetic education of other health professionals and the
203 There appeared to be inter-State variations, as a genetic counsellor in this project stated that genetic counsellor training in NSW was not as good as in Victoria, where it was centralised (G3i1: 126, 214). 204 C33i1: 457. Her comment illustrates a lack of concern for a non-directive model of genetic cocunselling, in that it equates counselling with ‘directive’ medical work. 205 Doctors in the genetic counselling clinics that I observed gave priority to other duties in that they immediately responded to calls by telephone and pager during genetic counselling sessions, and occasionally left the clinic to attend to other matters judged more urgent. Genetic counsellors did not do this. Chapter three: disciplining reproductive choice page 205
public—both during and outside usual working hours,207 and attendance at clinical discussion meetings,208 guest lectures,209 workshops and conferences, journal club,210 supervision,211 and other meetings.212 For genetic counselling
206 The genetic counsellors (G3 and G6) who worked in the publicly funded prenatal diagnosis genetic counselling clinic coordinated three additional clinics for their genetics unit each week, for a total of two working days. G3 commented that ‘there’s a lot of work involved in coordinating the clinics,’ including collecting X-rays, making appointments, attending to various enquiries from doctors and patients, and administrative work (such as writing letters, filing and other clerical work). They also organised and attended two other clinics held once per month at other hospitals (G3i2: 45, 103-116). 207 For example, they attended social and other functions organised by genetic support groups, or provided more formal educational talks to them. They provided educational talks to health professionals (G3i2: 52), nursing staff administering prenatal serum screening tests (G3i3: 479-490),207 and to social workers at community health centres (G6i2: 358-360). This work was done outside usual working hours, on average, about once every two to three weeks and this level of unpaid work was considered ‘not too bad’ (G6i2: 377). 208 Clinical discussion meetings, which both genetic counsellors and doctors at the public clinic attended, included a two and a half hour meeting held each week to review all patients seen at all clinics during that week. They also attended weekly intake meetings that discussed cytogenetics results, weekly pre-clinical meetings held before the prenatal diagnosis clinic, and weekly radiology meetings (G2i2: 10-26). These meetings performed an educational function for training clinical geneticists, and were also considered suitable for genetic counsellors (G3i2: 28-37, 239). Training for both medical geneticists and genetic counsellors in that State recently had been organised to include a high-level genetics course. A third year university genetics course was required, comprising 3 lectures and one tutorial per week. It could be done externally, when tutorials were concentrated into two 2-day sessions (C30i1, C33i1). The doctors also had regular two and a half hour meetings specifically for their clinical genetics training, and genetic counsellors were encouraged, but not required, to attend. If they were held at another hospital the genetic counsellors did not often attend them ‘because it’s just time out that we haven’t got’ (G3i2: 27). 209 Held in the lunch hour once per fortnight. 210 In order to keep up-to-date with the literature, genetic counsellors at two of the clinics in my study were expected to attend and participate in presentations at weekly journal club meetings. At one ‘journal club’ meeting I attended there were a number of topics concerning social aspects of medical genetics (ie, GP knowledge of genetic counselling, the historical stigmatisation of genetic disease, and ethical questions) and technical issues (eg, time limits for safe CVS prenatal testing) (Diary 12.8.93: 2-10). Genetic counsellors were included with clinical geneticists on a circulation list of new information from a small number of journals that was regularly circulated, but reading of any articles was elective, sandwiched ‘between all the other things.’ There were usually only a small number of articles that concentrated on genetic counselling issues—the topic in which genetic counsellors expressed most interest (G6i2: 414-466, 520). One nurse trained in midwifery and employed to do genetic counselling on the triple screen program (G16) described how she found the language in some journals (eg, the American Journal of Human Genetics) ‘hard to understand’ and ‘boring’ to read– ‘too genetic orientated for me’—compared with others she found interesting, such as Prenatal Diagnosis and obstetrics journals (G16i1: 37-58). 211 Genetic counsellors were required to attend regular ‘supervision’ sessions with health professionals guiding their training in counselling and genetics, although counselling appeared to have a higher priority. For example, G3 had a regular counselling supervision meeting of about two hours per week with a psychologist—others genetic counsellors also used social workers (G3i2: 38, 42, 73-77). As part of her training, she was supposed to have a weekly genetics supervision session with a clinical geneticist. However, she reported that because the clinical geneticists ‘are often busy’ this might be cut short or even postponed (G3i2: 39-40.). Chapter three: disciplining reproductive choice page 206 in the medical genetics clinics, genetic counsellors usually observed while a doctor performed genetic counselling work.213 The prenatal diagnosis clinical discussion meetings I observed were multi-disciplinary and, as observed in the US (Kenen 1984: 545), appeared to serve as another stage for public display of medical expertise. Unlike the genetic counselling clinics, however, the only audience was other health professionals—discussion was dominated by medically trained staff, with other staff acting as (mainly silent) witnesses to their performance of negotiating knowledge claims about the body.214
Coordination and administration appeared to form a major part of the genetic counsellor’s workload.215 Genetic counsellors were responsible for: collecting patient and test results before a clinic; during the genetic counselling session filling out many forms,216 writing out specific information for the client, and making appointments during genetic counselling for later ultrasound, prenatal diagnosis and other tests; photocopying patient notes for duplicate files held by the genetics unit; and maintenance of stocks of
212 The genetic counsellors had tried to establish a counselling meeting in their unit for all clinical staff to attend once per fortnight but ‘people find that they are too busy to take an hour off at lunch-time to come’ (G3i2: 249). On the other hand, the training program for medical geneticists was being revised to include counselling training for the first time. It was planned to comprise five full days of counselling training and a genetic counsellor (G3) believed this was an appropriate level of training, as the clinical geneticists’ main task was diagnosis, not counselling (G3i2: 249-258). 213 G3 commented in an interview that ‘a lot of our time is wasted just sitting and listening to what is happening clinically.’ She noted that a ‘more valuable use of her time’ would be to divide the clinical labour into diagnostic work done by the clinical geneticist, and counselling work she could do afterwards (G3i2: 270-271). As for the prenatal diagnosis clinic, genetic counsellors were ‘allowed’ to do some specific purpose genetic counselling, such as cystic fibrosis (G2i2: 11-13). 214 As well as (mainly female) clinical geneticists, fellows in training and a genetic counsellor, other health professionals who attended included: (nearly all female) laboratory science workers, nurses, radiographers, and (mainly male) doctors such as obstetricians, specialists in foetal ultrasound or foetal medicine, pathologists, and cytogeneticists. 215 G3i2: 46. 216 For example, the health professional doing genetic counselling completed the hospital records forms for collecting a medical history—usually in multiple copies, request forms for ultrasound or blood tests, data collection forms, and consent forms. Chapter three: disciplining reproductive choice page 207
education pamphlets in the clinic.217 Other work involved during genetic counselling included supervising children who may be present, and collecting blood.218
In an interview, one clinical geneticist in training commented that women who do genetic counselling are ‘less paternalistic’ and more likely to understand issues concerning pregnancy.219 The more recent survey by Wertz and Fletcher (1998) reported that a high number of health professionals giving genetic counselling in Australia had received requests for sex selection by prenatal diagnosis. Those in Australia (67 percent) had a slightly higher rate of requests than their colleagues in the US (62 percent) and double those in the UK (32 percent). However, in contrast to their US colleagues,
Australian health professionals who do genetic counselling are twice as likely to try to dissuade clients from having prenatal diagnosis for sex selection (47 percent in Australia compared with 24 percent in the US) and half as likely to support whatever decision the client makes (13 percent in Australia compared with 29 percent in the US) (Wertz and Fletcher 1998: 259).220 The high Australian attitude favouring directiveness for sex selection could be due to their greater perception of sex selection as a social problem, or to a lower
217 For example, when I surveyed stocks of pamphlets in the clinic one day I found the four main pamphlets produced by the State Genetic Education Service, although they were a somewhat haphazard collection of a much larger number of different translations available. They comprised: Genetic Counseling (in English, Arabic, Greek, Lao, Macedonian, Serbian, Spanish, Turkish and Vietnamese); What You Should Know About Inherited Disorders (English only); Checking Your Baby’s Health Before Birth. Prenatal Diagnosis (English, Chinese); and MS-AFP. A Blood Test to Monitor Your Pregnancy (English only) 218 Some genetic counsellors did not collect blood, although all doctors did. Doctors had additional duties during genetic counselling of writing referrals to other doctors and medical certificates for a client’s absence from work. 219 C30i1: 1078. Six of the seven doctors who regularly worked at the three clinics were women; the only man worked alone in the private practice clinic. 220 Those in Australia shared opinions more in common with their colleagues in Canada (30 percent would dissuade and 17 percent would support any decision), whilst those in the UK were even more directive—51 percent would dissuade and 5 percent would support any decision (Wertz and Fletcher 1998: 259). Chapter three: disciplining reproductive choice page 208 cultural commitment to client autonomy compared with the social good. It may also be due to fewer Master’s level genetic counsellors in Australia participating in the survey. This trend may have changed since 1994 as more genetic counsellors (and more women) have entered the medical genetics arena not only in Australia and also other countries outside the US.
3.5. Chapter summary: Disciplining a technology for governing the self
The confession is a ritual of discourse in which the speaking subject is also the subject of the statement; it is also a ritual that unfolds within a power relationship, for one does not confess without the presence (or virtual presence) of a partner who is not simply the interlocutor but the authority who requires the confession, prescribes and appreciates it, and intervenes in order to judge, punish, forgive, console, and reconcile; a ritual in which their truth is corroborated by the obstacles and resistances it has had to surmount in order to be formulated; and finally, a ritual in which the expression alone, independently of its external consequences, produces intrinsic modifications in the person who articulates it: it exonerates, redeems, and purifies him (sic), it unburdens him of his wrongs, liberates him, and promises him salvation ... By virtue of the power structure immanent in it, the confessional discourse cannot come from above, ... through the sovereign will of a master, but rather from below, as an obligatory act of speech which, under some imperious compulsion, breaks the bonds of discretion or forgetfulness. (Foucault 1984b): 61-62
One means for genetic counselling to act as a technology of the self is through the ‘ritual of confession’ in the clinic. In this ritual the health professional asks the client to ‘confess’ about deviance, in terms of asking questions about health abnormalities and that of other family members. The health professional intervenes as an authority by making truth claims about genetic
(and other) bodies and about technological solutions for correcting deviance.
In Chapter two I described how health professionals construct a funnelling process in genetic counselling that materialises and normalises a genetic Chapter three: disciplining reproductive choice page 209 body as the object of professional discursive practices. In this chapter I provided an international overview and and in-depth socio-historical description of how health professionals in the medical genetics arena regulate their authority through genetic counselling.221 I have concentrated on their ethical codes articulated in rhetorical strategies about eugenics and in various models of genetic counselling, and on the social relations of professions working in genetic counselling and prenatal diagnosis.
Education and training of health professionals perform a role of institutionalised gatekeeping that demarcates boundaries between professionals, and between the professional and the client. The professionalisation of genetic counselling has served to establish cognitive authority for those professionals generally, for their knowledge claims in the prenatal diagnosis clinic that materialise and normalise particular bodies, and for particular technological solutions to deviant bodies. Different co- existing models of genetic counselling articulate complex professional power relations and govern different parts of the self. Kenen (1984: 545) has described the power that professionals exert in genetic counselling in terms of indeterminacy of ‘tasks (that) cannot be routinized’ and of the degree of uncertainty. Whilst I find much that is useful in such structuralist and post- structuralist interpretations, I have sought an alternative position that brings together a pragmatist examination of social interactions and a Foucauldian questioning of actions as ethical practices—of examining choices about
221 For this chapter, the richness of my data has allowed me to provide considerable detail on the social relations of genetic counselling and medical genetics in Australia. There has been very little research done on these topics before (but see Kenen 1986). I have also been able to more fully describe sociohistorical relations of genetic counselling located in the US compared with the UK because of the more abundantly published material on the US context and its greater accessibility in Australia. Chapter three: disciplining reproductive choice page 210 choices. In this chapter, I have argued that indeterminacy and uncertainty are articulated in various models for genetic counselling work that make it a boundary object. Genetic counselling can be flexibly interpreted as it crosses boundaries—from one historical time to another, from one nation to another, and from one to another type of professional working in interdisciplinary spaces, such as that occupied by prenatal diagnosis where medicine, the sciences of genetics and psychology, and nursing meet.
Professional power relations regulate who provides the genetic counselling and how they perform it (as well as expectations of their performance). A hierarchy of cognitive authority has been established in genetic counselling that is dominated by medically trained professionals. I have described a complex of national, disciplinary, historical and gendered differences that produces different performances of professionals as subject bodies and, thus, different opportunities for the client to practise an ethics of reproductive choice. All within the disciplinary complex of genetic counselling, however, aim to ‘reconcile’ the client to govern the self, in terms of understandings about their body and the technological promises of
‘salvation’ through their own individual reproductive choices. Those technological choices are discussed in the next chapter.
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Chapter Four
Disciplining technology: Does it work? Is it safe?
I understand that the procedure involves a risk to my unborn baby. There is a possibility that the procedure may not be successful. There is a possibility that laboratory testing of specimens obtained may fail. A normal result does not eliminate the possibility that the child may have birth defects and/or mental retardation. No assurance has been given that any particular doctor will perform this procedure. (Excerpt from consent form used in the publicly funded genetics clinic.)
In Chapter two I described how genetic counselling and prenatal diagnosis govern the maternal body by regulating reproductive populations. I described how health professionals who provide genetic counselling use a risk discourse and a funnelling process to materialise a genetic body subject to dangers of chromosomal abnormality. In Chapter three I turned to examine the discipline of the maternal body as it is articulated through genetic counselling as a technology of the self. I described how the formation of the professional arena of medical genetics, and genetic counselling as a professional practice, have governed the self in an ethics to be performed by a genetically responsible decision-making individual. In this chapter I examine the government of the self that is articulated through the choices offered to individual women for assembling the maternal body with elements of the prenatal diagnosis package.
Genetic counselling constructs diverse possibilities for such assemblages. Most health professionals who have done genetic counselling have not experienced prenatal diagnosis themselves, although this is changing with the more recent increase in numbers of women—and younger women—entering the field both as clinical geneticists and genetic counsellors Chapter four: disciplining technology page 212
(Rapp 1987: 106).1 The knowledge claims about available technologies that health professionals provide in genetic counselling are largely derived from the laboratory and the clinic. As shown in the above excerpt from a consent form used in a genetic counselling clinic in this study, those knowledge claims include warnings about possible dangers to the fetus from the technological solutions on offer.2 Consent forms articulated uncertainties about physical harm to the fetal body consistent with the funnelling process in genetic counselling described in Chapter two. There is strong consensus that the technologies pose no serious threat of physiological harm to the woman’s body.3 However, uncertainties remain about the ability of a technology to ‘work’ (ie, to diagnose fetal abnormality) and to be safe (ie, to not threaten fetal survival or quality of life), and these are the subjects for discussion in this chapter.4
4.1 Does it work? Fetal and technological normalisation
A normal result of any test does not guarantee a perfect baby. (A medical geneticist to a 37-year old woman and her partner in the private clinic.)5
1 One fellow in training (C30) aged 32 years was pregnant with her second child during the time I was doing fieldwork and had already had an amniocentesis (C30i2: 837-892). 2 As described in Chapter one, I follow Haraway (1992) who used the term ‘monster’ as an ironic comment on those objects or events that transgress normalised constructions of nature (the body) and technology. 3 Health professionals who do genetic counselling have, however, expressed concerns about emotional harm to the maternal body. In Chapter three I described how a psychosocial model of genetic counselling articulated those concerns by seeking to govern an emotional maternal body. In Chapter five I describe how those concerns have been articulated in struggles to establish new prenatal diagnosis screening technologies. 4 Most of the health professionals whom I interviewed were unable to cite specific sources in the literature to support their claims. As the pressure of fieldwork made it impossible for me to search the literture until after I left the field, I was unable to follow up their claims in the clinic and in interviews at a later date. 5 U2W/M-C7/PT; C7: 313. Chapter four: disciplining technology page 213
Genetic counselling observed in this study focussed on techno-scientific uncertainties in the performance of four main technologies and techniques: amniocentesis, CVS, ultrasound and maternal blood tests.6 The choice to use none of the technologies available was often raised but not discussed in much detail. Diagnostic certainty was sufficiently high for the first two tests to support their identity as diagnostic tests. On the other hand, the identity of the last two was more mobile between ‘diagnostic’ and (less certain)
‘screening’ tests. In contrast, fetal safety was less certain with the first two
(reflected in their identity as ‘invasive’ tests) compared with the last two
(‘non-invasive) tests. Maternal safety—in terms of emotional effects—was uncertain for all four. Many have expressed concerns about maternal emotions and relations with the fetus after deciding to have amniocentesis, because women have to wait until well into the second trimester of pregnancy to have the test and then have a further wait of two to three weeks for laboratory results (Burke and Kolker 1993; Golbus, Conte, Schneider, and
Epstein 1974: 904; Grobstein 1979: 108-110; Harper 1988: 94; Rothman
1988b: 96-115). Their concerns have been a primary reason for developing earlier methods such as CVS. Managing harm to maternal emotions was discussed briefly in Chapter three with regards to the psychosocial model of genetic counselling. It is discussed further in Chapter five with regards to concerns about maternal anxiety with the triple screen.
Different technologies have exerted different disciplinary relations in their assembly with the maternal body. Apart from the development of new genetic laboratory techniques for producing human karyotypes (see Chapter
6 Fetoscopy for visualisation of, and blood sampling from, the fetus is another prenatal diagnosis technology, and its use has been restricted to diagnosing genetic disorders of the blood (eg, hemophilia) (Antsaklis, Benzie, and Hughes 1985). Chapter four: disciplining technology page 214 two, sub-section 2.5.2), the two major diagnostic procedures—amniocentesis and CVS—have used largely pre-existing technologies that are relatively simple and/or already widely used. They have therefore not required much further development to be adapted for those procedures. For example, transabdominal sampling of amniotic fluid has been practised since the early
19th century, although it did not become readily accepted until the middle of the 20th century.7 The needles used for abdominal puncture also were commonly used for spinal injections (Dacus et al. 1985: 445; Fuchs and Riis
1956: 566). Basic tissue culture techniques were being used for a wide range of medico-scientific purposes since the 1950s. During that period, the technique was extended to chromosomal analysis after amniocentesis, and
Steele and Breg (1966) appear to be the first to have published such an attempt (Jacobson and Barter 1967: 796-797). A popular method for transcervical CVS developed in the 1980s uses readily available cannulas.8
Maternal serum screening for chromosomal abnormalities uses biochemical tests commonly used during pregnancy. However, its potentially much larger
7 Amniocentesis has had a long history for treating polyhydramnios by removing the excess fluid that has accumulated in the womb. In the 1930s medicine invented ways of using amniocentesis to inject substances into the womb, such as X-ray dyes to locate the placenta and hypertonic saline to terminate pregnancy (Davies and Nicolaides 1993: 1245). In the 1950s amniocentesis was used to monitor fetal abnormality by withdrawing amniotic solution in order to monitor bilirubin concentrations associated with rhesus incompatible pregnancies (Bevis 1950; Walker 1957). 8 The Portex brand cannula—described in an early publication (Brambati and Simoni 1983) and widely used for CVS since then—is manufactured by a US medical supply company that is part of a group of companies in four manufacturing sectors that include aerospace and engineering. Portex brand products are used widely in anaesthesia, respiratory care, critical care, and needle protection (Smiths Industries Medical Systems 2001). A proceduralist in this study who preferred to develop her own specific tools found a scientific instrument-making company in Australia that was prepared to develop and supply her with the small quantities of a ‘better’ cannula. Their customer base expanded to include a small number of other proceduralists that she had referred to that company (C6i1: 490-515). Possibly the company offset their low profit margins for this particular technology by opening up opportunities to market other products. There appears to be little medico- scientific interest in experimenting with other technologies. A recent review found only three randomised trials on alternatives, to conclude there was insufficient evidence to change widely accepted practices using the Portex cannula and aspiration method (Alfirevic 2000b). Chapter four: disciplining technology page 215 scale of use for Down syndrome screening made it sufficiently attractive for commercial development of specific kits. One of the early researchers who developed maternal serum screening for Down syndrome has performed a strongly entrepreneurial role in the development of the kits as well as the computer software necessary for analysis.9
In this section I firstly describe how the various technologies offered for genetic prenatal diagnosis construct different bodies to be governed. This is followed by a discussion of claims about the diagnostic certainty about the fetal body for those different technologies. I summarise this section in terms of how the different technologies articulate an ethics of reproductive choice for governing the self.
4.1.1 Constructing fetal bodies
Foucault has described social relations in medicine in terms of dividing practices with respect to the body. In his early ‘archaeological’ period, he examined historical differences and similarities in the ways medicine divided the body to produce pathology, or abnormality. He described how nineteenth
9 At an Australian meeting on prenatal screening, which I attended during the fieldwork stage of this project, local companies were promoting two prenatal screening products made by large multinational corporations. One company was Johnson & Johnson, marketing ‘Prenatal’ brand risk assessment software (Johnson & Johnson Clinical Diagnostics n.d.), and at that time being used in Western Australia (O'Leary 1995). Another was Wallac (founded in Finland and now part of the high technology PerkinElmer group of companies), marketing the DELFIA range of immunoassay screening technologies for use as a maternal serum testing kit, together with ‘MultiCalc Down’s’ brand software for risk calculations (Wallac 1995, and n.d.; PerkinElmer 2001). Another Australian maternal serum screening program used Alpha brand software (Sinosich 1995), which had been developed by Logical Medical Systems in conjunction with Wald and Cuckle—early researchers and developers of the triple screen and other maternal screening programs (see Chapter five). Howard Cuckle has been particularly entrepreneurial. As well as being a Director of Logical Medical Systems Limited (University of Leeds n.d.), he has also developed a commercial version of the triple screen for sale to individual women using obstetric services at the hospital where he was employed. He has stated that profits were invested back into research (Webb 1991). During my fieldwork, a clinical chemist from South Australia complained that the triple screen became established in Australia ‘because of the aggressive marketing program by one company.’ He described how he had been developing a ‘quadruple’ test that he claimed had a greater detection rate and lower false positive rate (discussion following Taylor and Frommer 1992.). The South Australian protocol was exported to New Zealand (Webster 1995). Chapter four: disciplining technology page 216 century medicine forged new relations with government to establish jurisdiction over both healthy and sick bodies in the teaching hospital.
Moreover, it used the sciences of pathological anatomy to subdivide the human body into local sites where abnormality could be sought (Foucault
1973). This sub-section identifies a continuity of knowledge claims and practices articulated in the genetic counselling clinic. I describe the construction of a multiplicity of fetal bodies for disciplining abnormality.
Each technology offered in genetic counselling materialises a different body and divides it up into different constituent parts that can be normalised in order to detect and discipline deviance.
A subdivided body and sampling procedures
A sample of the amniotic fluid (about 15mls) is then withdrawn through the needle. ... The amniotic fluid contains cells shed by the developing baby’ (Barlow and O'Reilly 1991).
A very small amount of the placental tissue (called chorionic villi) is withdrawn through the tube. The amount of tissue needed for the analysis is extremely small and represents only about 1/1000 of the total amount of placental tissue (Barlow and O'Reilly 1991).
Knowledge claims about amniocentesis and CVS sampling procedures subdivide the maternal body into fetal and maternal constituents, and an origins discourse further subdivides the fetal body itself into constituent organs and other parts. The above extracts are taken from an information booklet about genetic testing techniques (Barlow and O'Reilly 1991) that was used during genetic counselling in all three observed clinics in this study. The texts construct different body parts (‘cells shed by the developing baby’, placental tissue ‘called chorionic villi’) as signifiers of fetal abnormality located in spaces that cross boundaries between mother and fetus (amniotic fluid, the placenta). These signifiers of fetal abnormality begin to construct Chapter four: disciplining technology page 217 materno-fetal boundaries.10 The booklet contains diagrams for amniocentesis and CVS procedures (see Figures 8 and 9 respectively). They present only the parts of the maternal body located near the fetus, as transverse sections of a subdivided maternal body traditionally depicted in medical textbooks. The strong definition of the uterine wall further constructs the fetus as a separate object and the primary focus of attention.
In the genetic counselling clinic, simplicity of language can complement diagrams in negotiating medical knowledge claims about the body and about prenatal diagnosis technologies. The simplicity of the text in the booklet generally matched the language used in the observed clinics. Quantitative descriptions were usually not discussed unless a question was raised.11 In the observed clinics, non-medically trained genetic counsellors described the fetal sample most simply. An example describing amniocentesis is shown below:
10 At both the mixed public/private and the private clinics, copies of the information booklet were mailed out, if time permitted, to the woman before her appointment (G4i4: 694). The publicly funded clinic did not have enough resources to do this. Copies of the booklet were in short supply. However, occasionally I observed a copy being given to a client to take away with them when they were having difficulty making a decision (G3i2: 621; GC4/7Diary1/11/93: 13). 11 The following example shows how measurement of sample and time were used to reassure the client: Genetic counsellor: (T)he test [amniocentesis] probably takes about five minutes to do, too. If you have an injection it’s in and out. This would take a bit longer because fluid obviously has to be drawn up into the (syringe). Client: How much? Genetic counsellor: About twenty to thirty mls of amniotic fluid is taken. With the CVS it’s not nearly so much. (Genetic counsellor to 37-year old woman and her partner in the publicly funded clinic) (U18W/M-G3; G3: 397-405). Occasionally there was no direct identification of the fetal body part: ‘they take some of the water, or the fluid, around the baby’ (U37W-G6/PT: 183). Sometimes this appeared to be due to the health professional’s assumption that the client already was familiar with the knowledge claims after having had a procedure for a preceding pregnancy (U51W/M-C33: 27-29). Chapter four: disciplining technology page 218
Figure 8:Amniocentesis procedure (Barlow & O’Reilly 1991: 10) Chapter four: disciplining technology page 219
Figure 9: CVS (chorionic villus sampling) procedure, showing both transcervical and transabdominal methods (Barlow & O’Reilly 1991: 4-5) Chapter four: disciplining technology page 220
They take some of the fluid which is surrounding the baby, which also contains cells from the baby. (A genetic counsellor in training to a 33-year old woman in the publicly funded clinic.)12
The medically trained health professionals gave more factual detail, such as describing the origins of the fetal sample. The third generation medical geneticists who had completed their training tended to give the most detail, as shown in the following example:
The baby is floating in a fluid sac. Into that sac, the baby, like all of us, is shedding skin cells, mouth cells and bladder cells. So, if Doctor C6 passes a needle through your abdominal wall, through the wall of the uterus, into that fluid sac, then she can take out about ten to twenty mls of that fluid and in that fluid any of those loose floating cells would come out. (A certified medical geneticist to a 35-year old woman in the mixed public/private clinic.13
In response to a question raised, one ‘second generation’ medical geneticist who had long completed his training gave even more detail whilst using mainly simple language:
(T)he cells that are in the fluid, the sample of fluid that we take, most of them are dead cells, not living, because they’ve either been desquamated from the fetal skin or shed from the fetal bladder. So there will be some of the cells there that are living ... but the majority are not. (A medical geneticist/proceduralist to a 37-year old woman in the private clinic.)14
This particular information about the cells sampled in amniocentesis (only some are living and able to be cultured in the laboratory) challenges claims about diagnostic certainty with amniocentesis (see Section 4.1.2).
12 U7W-G6C10: 684 13 U16W-C14/PT; C14: 95 14 U31W-C5/PT: 219-223. His clients were from a more financially independent class who could afford to attend his private clinic. He could occasionally use technical language (‘desquamated’—shed from the skin) because of his clients’ relatively high level of education. Nevertheless, he took care to include explanatory language (‘from the fetal skin or shed from the fetal bladder’). Chapter four: disciplining technology page 221
For CVS, a similar simplicity of language was observed and specific details about the size of the sample were rarely given.15 , It was never compared to the size of the placenta, as was done in the booklet. Origins story told about the CVS sample are discussed in Section 4.1.2 and 4.2.2 below.
Practices of ultrasound divide the fetus from the mother’s body by focussing sound waves on the fetal plane. It subdivides the fetal body into constituent organs, which are examined individually. Reassurance was offered in genetic counselling about the ability of ultrasound to carry out surveillance of particular parts of the fetal body. For example, in the mixed public/private clinic a medical geneticist in training described to a 35-year old woman the diagnostic capability of ultrasound, in terms of its ability to ‘have a good look’ at ‘the brain, the way the spine’s closed over, the face, the heart, limbs … leg length, finding a heart abnormality, the shape of the neck, the shape of the hands.’16 Maternal serum screening tests are not so successful in imposing a boundary between the fetal and the woman’s body. Descriptions of their action are in terms of biochemicals in maternal blood (serum) that have various origins in the fetus and the placenta, and the tests were less able to reliably signify fetal abnormality.
A genetic body and similarity
Now, there’s two tests that are done. And they both give us the same information. (A genetic counsellor in training to a 42-year old woman in the publicly funded clinic.)17
15 The sample usually was simply described as ‘small,’ a ‘little bit’, or a ‘little piece,’ as for the booklet’s ‘very small amount.’ One exception was the (again, second generation) medical geneticist (C8), who usually did not do prenatal diagnosis genetic counselling and who appeared to seek to reassure the client: The afterbirth is very large compared to the amount of tissue we take. I mean, it’s very insubstantial in size. And we just take twenty milligrams, which is a tiny little piece (medical geneticist to a 42-year old woman in the publicly funded clinic) (U33W-C8: 129). 16 U16W-C14/PT; C14: 174-175. 17 U37W-G6/PT; G6: 128 Chapter four: disciplining technology page 222
(O)nce we have some cells—whether they’re collected by doing an amniocentesis or doing a CVS—once we have those cells and they go to the laboratory, the laboratory testing is the same. We end up looking at chromosomes from the baby. (A medical geneticist/ proceduralist to a 39-year old woman and her partner in the private clinic.)18
Health professionals claimed in genetic counselling that amniocentesis and
CVS collect different types of tissue that share the same genetic identity (see texts above). (Again, the medically trained health professionals gave more detail.) This genetic reductionism materialised and normalised a genetic fetal body, defined in terms of chromosomal difference, as shown in the example below:
So (amniocentesis) will tell us the chromosome number. And we’ll also be able to look and make sure that they all look the right shape and the right size. (A medical geneticist in training to a 37- year old woman in the mixed public/private clinic.)19
I observed only one example of genetic reductionism being initiated by the person receiving genetic counselling. The client was interested in diagnosing fetal sex:
The CVS will actually give you the same genetic information won’t it? Like, I mean, if you wanted to know if it was a boy or a girl, or anything (A 37-year old woman to a medical geneticist/ proceduralist in the private clinic.)20
However, the genetic reductionism about similarities in the fetal body produced by both diagnostic procedures was in tension with uncertainties in laboratory technique and an origins story about the tissue sampled in the
CVS procedure. Amniocentesis sometimes yields results that differ from the fetal chromosomal constitution, because of either ‘maternal contamination’
18 U43W/M-C5/PT; C5: 133 19 U28W-C14; C14: 265. 20 U36W-C5/PT; U36W: 328-329. Chapter four: disciplining technology page 223 or artefacts attributed to laboratory techniques. CVS samples tissue other than the fetal body. According to theories about embryonic development, chorionic tissue (which differentiates into the placenta) shares a common origin with the fetus in that they both differentiate from the fertilised egg.
The information booklet used in genetic counselling claimed that the ‘cells making up the chorionic villi have the same genetic information as the developing baby’ (Barlow and O'Reilly 1991: 6). See sub-section 4.1.2 for discussion of diagnostic uncertainties and differences between amniocentesis and CVS.
An anatomical body and genetic difference
And independent of the chromosomes, initially many women have an eighteen week ultrasound because that’s about our best chance to look at growing the baby up to be as big as possible at the time when we could do something about it, if there was a major life- threatening abnormality. So, with Doctor C6 doing it, she’s looking at the brain, the way the spine’s closed over, the face, the heart, limbs, to have a good look. ... Now, using that to look for Down syndrome, Doctor C6 would pick up about, and the published figures would be there, pick up about forty five percent of Down syndrome babies, purely by having the ultrasound then, because of slight variations in the growth of the baby in terms of leg length, finding a heart abnormality, the shape of the neck, the shape of the hands. (A medical geneticist in training to a 35-year old woman in the mixed public/private clinic.)21
In genetic counselling, an anatomical fetal body was constructed by descriptions of ultrasound technologies. The anatomical fetal body was located within the discursive space of a genetic body through descriptions of ultrasound in terms of its three main purposes.
Firstly, a ‘dating scan’ in the first trimester laid the groundwork for the construction of an anatomical fetal body. Following overseas standards of
21 U16W-C14/PT; C14: 174-177. Chapter four: disciplining technology page 224 ultrasound practice (ACOG 1993), health professionals in observed clinics in this study advised that from about six weeks’ gestation a dating ultrasound scan could be used to diagnose the presence of a fetal body, the number of bodies present, fetal viability (eg, detection of a heart beat) and stage of development (eg, crown-rump length).22 However, the fetus was not differentiated sufficiently to enable diagnosis of genetic abnormalities from its anatomical structure: ‘there’s not a lot to see at this stage. It’s like a tiny little coffee bean in a sac’ (A medical geneticist in training to a 41-year-old woman in the mixed public/private clinic).23
Historically, ultrasound began to articulate genetic difference onto the anatomical fetal body with its second major use as a guide for the proceduralist performing an amniocentesis or CVS. When ultrasound was first used, it was performed up to a day or so before the amniocentesis. With the later development of ‘real time’ ultrasound in the early 1980s, it could be used during the procedure itself (Docker 1992: 74-75).24 In the prenatal diagnosis information booklet, ultrasound was described in terms of its use for both the dating ultrasound and during a procedure (as shown in the following excerpts about CVS and amniocentesis respectively):
The ultrasound scan can tell the doctor if you are carrying twins, and is used to accurately measure the baby to determine the age of the pregnancy. The scan also locates the position of the chorion (placental tissue) which will be sampled (Barlow and O'Reilly 1991: 3).
The ultrasound scan can tell the doctor if you are carrying twins, the position of the placenta and can also detect some rare abnormalities in the developing baby. The position of the baby
22 U1W-C7/PT; C7: 105; U27W-C14/PT: 34-55 23 U27W-C14/PT; C14: 39 24 The invention of real time ultrasound came about with the introduction of computerisation in 1983, using a hybrid analogue/digital computer (AHTAC 1998: 18). Chapter four: disciplining technology page 225
and the largest pool of amniotic fluid are looked for in preparation for the amniocentesis (Barlow and O'Reilly 1991: 9).
Descriptions of ultrasound used to guide a prenatal diagnosis procedure strongly produced an anatomical maternal body that was divided up into a fetal body and other parts that joined it with the woman’s body (which disappeared):
It’s done under ultrasound control, as are all of these tests. So, ultrasound out here [indicates diagram in prenatal diagnosis booklet] so they can see where the placenta, the cord and the baby is, and where the biggest pocket of fluid is. (A medical geneticist in training to a 41-year old woman in the mixed public/private clinic.)25
Ultrasound’s use during a prenatal diagnosis procedure is discussed further in terms of knowledge claims about fetal safety (see Section 4.2).
Anatomical and genetic differences were most strongly articulated together in descriptions of the third major use of ultrasound: the ‘fetal anomaly scan’ performed in the second trimester (about 16 to 18 weeks gestation). Recommended practice included visualising anatomical abnormalities in the head, back, spine, heart, stomach, kidneys, bladder, leg, and umbilical cord (Seeds 1996). For particular anatomical abnormalities of the head, neck, heart, digestive system and leg that were claimed to be possible indicators of Down syndrome and other chromosomal abnormalities, genetic counselling articulated a genetically determined anatomical fetal body.
At the preclinical discussion meetings, the proceduralists mainly used ultrasound images as visual representations of the fetal body. Moreover,
25 U27W-C14/PT; C14: 153. Chapter four: disciplining technology page 226 anatomical, rather than chromosomal, difference dominated discussion.
Nevertheless, the presence of genetics professionals produced a genetically determined body through their search for genetically determined anatomical difference.
A biochemical body and complexity
The blood test is called a triple screen. And it’s just a blood test on you. (A genetic counsellor in training to a 37-year old woman in the public clinic.)26
Now, the triple screen is a blood test that’s done at about sixteen weeks. It’s originally developed from the fact that you would ordinarily have a screening blood test at sixteen weeks for spina bifida and measure the alphafetoprotein. And that goes up in spina bifida. When they looked at a big series of women they noticed that some women went on to have babies with Down syndrome who had had low levels. But just looking at alphafetoprotein, it’s not a very good way of picking it up. And it only picked about a third of them. So, more recently they’ve added in two other hormones that are produced by the baby and the placenta, and that’s a thing called hCG and estriol. And by measuring those three things and plugging in the woman’s age and her dates, the computer spits out a risk of Down’s. And anything that’s flagged as having a risk higher than one in two hundred and fifty is referred on for an amniocentesis. (A medical geneticist in training to a 35-year old woman in the mixed public/private clinic.)27
The triple screen is a particular type of maternal serum screening test. As described by the doctor in the extract above, it tests the serum in maternal blood for three biochemical entities: alphafetoprotein (AFP), human chorionic gonadotrophin (hCG), and estriol. The historical antecedent of maternal serum screening tests for genetic abnormality in the fetus was the
AFP (alphafetoprotein) screening test for abnormal neural tube development in the fetus (see Chapter five, sub-section 5.2.3). The AFP test identifies and measures changes in concentration of the AFP protein in fetal blood. It is
26 U8W-G6; G6: 345. 27 U16W-C14/PT; C14: 150-157. Chapter four: disciplining technology page 227 claimed to be unique to the fetus (made in the fetal liver) and found in both amniotic fluid and maternal blood (Brock and Sutcliffe 1972: 199; Brock,
Bolton, and Monaghan 1973). Abnormal AFP concentrations have also been linked with some chromosomal abnormalities in the fetus—specifically Down syndrome (Merkatz, Nitowsky, Macri, and Johnson 1984; Cuckle et al. 1984).
The triple screen for chromosomal abnormalities added estriol and hCG, identified as hormones produced by the placenta that indicate dangers to fetal survival (Wald et al. 1988b; Haddow et al. 1992; Wald et al. 1992a). For example, hcG usually indicated an imminent spontaneous abortion—understood to be at least 50 percent due to a chromosomal abnormality in the fetus (Bogart et al. 1987: 624). The triple screen constructed and normalised a biochemically determined fetal body:
(S)pina bifida or neural tube defect just means that the spine hasn’t covered over. So the fluid’s leaking. So when they take a bit of the fluid they test for AFP, which is a protein. And they know what the normal rates are. And if it’s very high it means that something’s leaking into the fluid, so that they know the spinal fluid isn’t covered over properly. (A genetic counsellor in training to a 41-year old woman in the public clinic.)28
The screening test’s incorporation into the prenatal diagnosis standardised package produced tensions between the genetic and biochemical fetal bodies constructed in genetic counselling, and these are described below.29 The biochemical body was located within the larger discursive space of a genetically determined fetal body. Again, as shown in the excerpts above, in observed clinics the non-medically trained genetic
28 U40W/M-G6/PT; G6: 428. 29 It appeared that women who attended the genetic counselling clinics in this study were more likely to be informed about the AFP maternal blood screen than women attending publicly funded clinics for general prenatal care, where the test was routinely performed (although I was not able to verify this because of limited resources). Chapter four: disciplining technology page 228 counsellors gave simpler descriptions, whilst the doctors included more detail.
In the three clinics in this study, AFP testing of amniotic fluid was done routinely on all women who had an amniocentesis, despite the test now coexisting in two other forms in tests on maternal blood (the AFP test alone, and as the triple screen or other multiple combination tests).30 As the AFP test on maternal blood to screen for neural tube abnormalities in the fetus, it was a ‘cheap, easy’ test31 done routinely in all three clinics in this study.32 As
AFP is one of the three indicators in the triple screen for chromosomal abnormalities in the fetus, it is an ‘actor’ that blurs the boundaries between a genetic and biochemical body.
Illustrations in the medical literature show how the triple screen further increases the complexity of a genetically determined biochemical fetal body.
Figure 10 is taken from a textbook on prenatal diagnosis that was commonly used by those who did genetic counselling at the clinics in this study. The graph performs normalisation of a genetically determined biochemical body using empirically derived population data. It does this by measuring the distribution of three biochemical indicators in ‘unaffected pregnancies.’
These are then compared with biochemical abnormalities claimed to be determined by the genetic abnormality of Down syndrome. The normalisation strategy is made more complex by the finding that AFP is
30 In his private clinic, the only time the medical geneticist was observed to mention the AFP test on the amniotic fluid sample was in response to a question about differences between amniocentesis and CVS (U43W/M-C5/PT; C5: 410-412). He subsequently explained that new technological developments (the AFP test on maternal blood and a detailed ultrasound) could adequately detect neural tube abnormalities without an amniocentesis being required (U43W/M-C5/PT; C5: 410-412, 413, 477, 481). This explanation was also given in the other two clinics observed in this study. 31 U6W/M-C7/PT; C7: 108. 32 A pamphlet about this test often was provided in the clinics (NSW Health 1990a). Chapter four: disciplining technology page 229
Figure 10: Representation of the three biochemical entities measured in the triple screen test, showing comparison between abnormal (fetus with Down syndrome) and normal (Lilford 1990: 81). Chapter four: disciplining technology page 230 detected in small amounts in all adult human serum, and becomes raised during pregnancy (it is claimed that the fetus is an additional source). Both these occurrences of AFP have had be normalised before it could be used to screen for fetal abnormalities.33 One of the major controversies with the triple screen is due to the significant overlap between ‘normal’ and ‘abnormal.’ This is discussed in relation to diagnostic certainty in Section 4.1.2. These complex graphical representations were never discussed during observed genetic counselling sessions.
Summary
In this sub-section I have described the production of different bodies and parts of the body to be governed in an ethics of reproductive choice. I have shown how the four major diagnostic technologies discussed in genetic counselling can sometimes enhance, and sometimes be in tension with, the genetically determined fetal body produced in the funnelling process described in Chapter two. The fetal body becomes separated from the woman’s body and made more complex through dividing practices in the
(genetic counselling and diagnostic) clinic and through the different types of bodies produced by the different technologies. That complexity is articulated in the ability of the different technologies to produce diagnostic certainty, and this is discussed in the next sub-section.
4.1.2 Diagnostic certainty about the fetal body
With the ultrasound we can’t guarantee you that, if we say that it’s normal, that it’s a hundred percent normal. With the [CVS or amniocentesis] test, we can. So if you had either of the two tests that look at the baby [amniocentesis and CVS] you can say ‘We are a hundred percent certain.’ ... The other thing is that when I said we could guarantee you that if we did this test [CVS] that it didn’t
33 For example, see Cowchock and Jackson (1976). Chapter four: disciplining technology page 231
have Down syndrome, nothing’s ever a hundred percent. And there’s a very small chance that we might have to re-do the test because we’re not quite sure, or a very minute chance that something would go wrong with the specimen. What we would mostly do is offer you another test. But occasionally the results aren’t easily interpreted and then we would have to re-do the test. (A medical geneticist in training to a 37-year old woman and her 33-year old male partner in the mixed public/private clinic.)34
Health professionals observed in this study explicitly drew attention to diagnostic uncertainties for all prenatal diagnosis technologies offered.
Uncertainties were sufficiently high for some of the technologies (the second- trimester fetal anomaly ultrasound scan and the maternal serum tests for chromosomal abnormalities) that they were identified as screening, rather than diagnostic, tests. The text above shows how the doctor ‘black boxed’ both amniocentesis and CVS procedures as having equivalent standards of certainty, in order to accentuate the uncertainties of ultrasound in comparison. Later, when describing CVS and its relative uncertainties compared with amniocentesis, she revised her earlier claim. She now used the standard acknowledgement of the limits for all prenatal diagnosis technologies in diagnosing bodily abnormalities.
In this sub-section, I examine knowledge claims about the ability of prenatal diagnosis technologies to do the work they are supposed to do. I firstly describe two major roles for the consent form, in normalising fetal bodies and technologies, which emerge from the aim of providing legal protection to the health professional. The consent form articulates limits to the ability of any of the available technologies to do their work of detecting deviations from fetal normality. In doing this, it also describes a performative
34 U45W/M-C31: 307-308, 334, 467, 496-497. Chapter four: disciplining technology page 232 role for the maternal body itself. I then examine claims about the four major technologies offered in genetic counselling. The interpretive flexibility exercised in the above text about CVS derives from a hierarchy in diagnostic ability of the different technologies. The hierarchy constructs amniocentesis as the ‘gold standard,’ or comparative norm, for judging how well other diagnostic technologies work to discipline abnormal fetal bodies.
Consent and uncertainty
We should say that for both of those tests [amniocentesis and CVS] the lab can only report on what they see. And there are rare examples in both cases of the test not showing an abnormality that is truly present in the baby. So, those particular cells that were looked at in the lab may not show an abnormality that actually is in the baby. Or, in some cases, they show abnormalities that don’t really represent the baby. There might be a little pocket of abnormal cells just sitting here, making the test looking (sic) abnormal when it really isn’t. So there is a small chance that the test is not going to give a helpful result, or in fact will give a wrong result. However, that is unusual in both cases. (A medical geneticist to a 39-year old woman in the public clinic.)35
In Chapter three I described the formation of professions who do genetic counselling work, and power relations that have constructed at least three models for doing their work. I described genetic counselling as a technology that co-constructs the client as a subject who governs the self in an ethics of reproductive choice. The health professional provides medico- scientific authority for the client’s assessment of facts and technologies in order to make reproductive choices. Consent forms have become a legal document for defending health professionals against litigation (Press and
Browner 1995: S10), and have been part of the prenatal diagnosis package
35 U47W-C10: 345-354. Chapter four: disciplining technology page 233 since its beginnings.36 The preceding two examples of statements made in observed genetic counselling clinics, and the excerpt from a consent form at the beginning of this chapter, show how the consent form translates a possible failure in medico-scientific authority into uncertainties located in the technology or in the maternal body.
The consent form is an authoritative statement about uncertainty that constructs the client as a fully informed decision-maker. The forms used in the observed clinics articulated the first two of the three models of genetic counselling discussed in Chapter three. As for the non-directive model, the forms constructed the professional as the provider of information to a client who had responsibility for managing their individual genetic risk. As for the guidance model, they were a tool for bringing specific uncertainties to the client’s attention. The psychosocial model did not appear to have guided the content of the consent forms used in the clinics in this study. None made reference to emotional or social outcomes for the client.37
A possible reason for excluding psychosocial risks and benefits—indeed, any perceived benefits—is that the consent form was produced primarily in response to litigation arising from harm caused to the fetus and others. For notions of consent, the law has materialised the fetal body as the part of the self to be governed; harm to parental emotions or the social good of
36 For example, in Australia a government working party made an early recommendation for their use with amniocentesis (NHMRC 1978: 382). 37 The WHO (1998) has published proposed ethical guidelines on informed consent and genetic testing which followed a psychosocial model of genetic counselling. It defined informed consent that should be obtained in clinical practice in terms of seven elements, of which the second—‘an explanation of … the chance that [the genetic service] will give a correct prediction—is the only one attended to in the consent forms used in this study. Others included, for example, ‘the implications of the test results for the individual and family, the test’s potential benefits and risks, including social and psychological,’ and ‘whatever decision individuals and families make, their care will not be jeopardized.’ In the observed genetic counselling clinics they were discussed to a greater or lesser degree, but not referred to in the consent form. Chapter four: disciplining technology page 234 populations have been cast as secondary effects. At the time that I did fieldwork in the clinics, some health professionals in the US had been successfully prosecuted in legal cases initiated by parents of some children born with an abnormality. A review of litigation in the US, written specifically for actors in the prenatal diagnosis social world, indicated that Down syndrome was widely believed to be sufficient cause for legal action (Pelias and Shaw 1992).38 ‘Wrongful birth’ actions (parents claim that a health professional or medical service led them to believe that the fetus was normal, or otherwise did not enable them to prevent the child’s birth) have been more successful than ‘wrongful life’ actions. For the latter, courts have generally not been able to determine damages because they have not been able to measure differences between life for a person born with an abnormality compared with no life at all (Pelias and Shaw 1992: 803-804).39 Press and
Browner (1995) provided evidence for a primary role for the consent form of governing the abnormal fetal body in the obstetrics clinic. In a study of the
California MSAFP screening program to detect neural tube and chromosomal abnormalities they found that the doctors’ requirement for both a consent form and an informed refusal form for those who reject testing. They concluded that the communication role of the consent form had given way to a primary aim of avoiding wrongful birth claims from women who were not screened (Press and Browner 1995: S11). This is in contrast to the genetic counselling clinics in this study, where the use of only the consent form enabled both the communication and legally defensive consent roles.
38 Children born with Down syndrome comprised 20 percent of cases examined (Pelias and Shaw 1992: 806-807). 39 For a recent example of experts continuing to debate the philosophical, ethical and legal claims about ‘wrongful life’ and ‘wrongful birth’ with respect to genetic counselling, see Gillon (1998). Chapter four: disciplining technology page 235
In Australia, consensus currently is being negotiated about consent as one of a range of ethical concerns in genetic testing. An information paper recently prepared by an NHMRC working party has been a preliminary tool in seeking consensus. The authors of the paper40 stated that it was not an authoritative guideline but only a means ‘to promote thought about the best way to proceed by identifying issues and options to be considered’ (NHMRC
2000: 5). Nevertheless, it recommended obtaining written (rather than verbal or implicit) consent for prenatal testing (amongst a number of other tests), and thus confirmed the continuation of practices I had observed in the genetic counselling clinics. It also recommended that the consent form
‘should provide a record of the matters involved and discussed’ (NHMRC
2000: 40). It thus appeared to extend the practices I had observed beyond the recording of only uncertainties in diagnosing fetal abnormality, although it refrained from detailing what matters could, or should, be recorded in the consent form.
In observed genetic counselling clinics, the two classes of uncertainties identified by the consent form were located in either the maternal body or in the technology. They were:
• transgressions from a normalised genetically determined fetal body
(either by an incorrect identity, due to maternal tissue in the
sample—‘maternal contamination’—or by an heterogeneous genetic
identity, due to a mixture of different cells of the sample—‘placental
mosaicism’); and
40 The working party was small, with only four members. Medical genetics professionals comprised Eric Haan (the medical geneticist and current President of the HGSA) and Jane Halliday (a genetic epidemiologist and member of the HGSA Combined Prenatal Diagnosis Committee and Joint HGSA/RACOG Maternal Serum Testing Committee) (‘Committees’ 2001; NHMRC 2000: 77). Chapter four: disciplining technology page 236
• technical problems in the diagnostic process (eg, a lack of information due
to insufficient sample, poor viability of the cells cultured in the laboratory,
or the inability of chromosomal laboratory techniques to detect other
abnormalities).
Together, these were sometimes expressed quantitatively in terms of a general risk of occurrence of about one in a hundred.
Diagnostic uncertainties were commonly expressed in terms of a binary of ‘false negative’ and ‘false positive’ results. There is a contradiction in the use of the positive polarity (a ‘positive’ result) to denote identification of an abnormality, when genetic abnormality is widely held to be a negative outcome. The contradiction is discursive evidence of medical genetics’ disciplinary power, which concentrates on identifying and controlling deviation from the normal. While the admission of uncertainties destabilises truth claims about technological effectiveness to diagnose abnormality, it relies on and reinforces constructions of normality about the fetal body. For example, the term ‘false positive’ materialises a ‘real’ normal body assumed to exist in contrast to the abnormal ‘false positive’ body. In addition, claims about ‘maternal contamination,’ normalise the maternal body, as they are based on an assumption that the maternal body is chromosomally ‘normal’ in contrast to a possibly abnormal fetal body.
During the fieldwork for this study, I observed an example of professional fear of litigation due to diagnostic uncertainty. During a pre- clinical meeting, a medical geneticist presented a ‘case’ for discussion in which it appeared that maternal contamination of a CVS sample had led to a false negative result (a missed diagnosis of Down syndrome in the fetus). The genetic counsellor concerned later confided in me that, although a doctor told Chapter four: disciplining technology page 237 her not to worry, as it was not her fault, she was worried about being sued.41
There had been considerable debate about this issue at the time, including a number of meetings at that clinic. I observed how proceduralists tried to protect themselves legally through careful choice of language. At an earlier pre-clinical meeting, they had agreed on the phrase ‘no anomalies detected’ rather than ‘normal result’ when reporting results of a diagnostic test. That is, they sought legal protection by acknowledging uncertainties in detecting deviations from a norm, rather than in making claims that defined a norm.
This suggested wording had been professionally ratified earlier that year at a
RACOG meeting.42.
In the following sub-sections I examine in detail major uncertainties described in genetic counselling that arise from assembling the maternal body with the four major technologies offered.
Amniocentesis
(I)t’s very accurate because it’s highly representative of the fetus. (A proceduralist to a 36-year old woman in the publicly funded clinic.)43
Genetic counselling was a discursive tool for establishing amniocentesis as the gold standard for diagnostic certainty about chromosomal abnormality. There was a high level of certainty about the identity of the sample—‘we know the cells come straight from the baby’44—and relatively high certainty about the sample’s viability:
41 GC4/7Diary8/11/93: 5-11. It was unusual for a medical geneticist to present a case, as meetings were usually led by one of the proceduralists who focussed on diagnostic uncertainties associated with ultrasound. I interpreted this as indicating concerns about litigation were shared with proceduralists. 42 GC4/7Diary9/8/93. 43 17W-C32; C32: 432. 44 U47W-C10: 333. Chapter four: disciplining technology page 238
Now, with about one in a hundred women we don’t get a result when we do this test because we don’t get enough cells to grow. Because if you think about the cells that we lose off our skin, they’re not the healthiest. They’re at the end of their life span. And so the cells fail to grow. (A medical geneticist in training to a 37- year old woman in the mixed public/private clinic.)45
Despite the more recently introduced routine testing for AFP in maternal blood, AFP testing continued to be done on amniotic fluid samples.
Thus amniocentesis also was the gold standard for diagnostic certainty about neural tube abnormalities, producing a non-genetically determined biochemical body from the AFP analysis, as well as a genetic body from the karyotype. Again, in the genetic counselling clinic non-medically trained genetic counsellors used simpler descriptions:
One extra thing you get with the amniocentesis is a little test for spina bifida. (A genetic counsellor in training to a 37-year old woman in the publicly funded clinic.)46
And we also do a test for spina bifida on the amniotic fluid. ... This test gives us slightly more information. That only looks at the chromosomes rather than anything else. (A medical geneticist in training to a 43-year old woman in the mixed public/private clinic.)47
Since its beginnings, health professionals have had confidence in the diagnostic ability of amniocentesis. For example, an early favourable review of amniocentesis by US experts described uncertainties optimistically in terms of controllable analytical methods in the laboratory :
The cytogenetic study of cultured and noncultured amniotic-fluid cells has become an established and practical diagnostic method. Provided that control of high quality is exercised, both fetal sex and karyotype can be accurately determined (Milunsky et al. 1970).
45 U28W-C14; C14: 267-271. 46 U29W-G6; G6: 876. 47 U38W-C33/PT: 229, 257. Chapter four: disciplining technology page 239
To support this statement, the author cited four major US studies published within the previous five years (Jacobson and Barter 1967; Nadler 1968a;
Steele and Breg 1966; Thiede, Creasman, and Metcalfe 1966). However, the earliest of these described difficulties in culturing the samples, such as a one in five success rate (Steele and Breg 1966). The second, published the next year, reported better success in culturing cells but only a one in five success rate in preparing a karyotype (Thiede et al. 1966). A report one year later of a success rate of 83 percent of all viable cells obtained, however, also described an overall success rate of less than fifty percent of all cell cultures attempted and gave no quantitative data on the success of preparing a karyotype
(Jacobson and Barter 1967). The fourth reported a similarly poor success story a year later (Nadler 1968b). Some of the authors of the review cited above had also expressed concerns at that time about the ‘frequent occurrence’ of anomalous karyotypes in amniotic cell cultures (Littlefield,
Milunsky, and Jacoby 1973). It is most likely that the authors’ confidence in the diagnostic reliability of amniocentesis had been resolved by international consensus, established shortly before the review, about a standardised method of karyotype analysis of human chromosomes (for further discussion, see sub-section 4.2.6).
The information booklet used in genetic counselling observed in this project, stated that for both CVS and amniocentesis, ‘very occasionally’ either test may have to be repeated ‘when the laboratory is unable to make an analysis of the tissue.’ Moreover, it stated that for CVS ‘very occasionally, there is a need for an amniocentesis to confirm a diagnosis’ (Barlow and
O'Reilly 1991: 6 & 11). These statements avoided describing the complexities of uncertainty in laboratory technique and the maternal body. For both Chapter four: disciplining technology page 240 amniocentesis and CVS, karyotype analysis occasionally yields a mosaic result (cells of different genetic composition). For example, at the time that fieldwork was being done for this project, laboratory protocols still were being negotiated to analyse cells after amniocentesis. These aimed to differentiate ‘pseudomosaicism’ (an artefact of laboratory procedures) from
‘mosaicism’ (a true representation of an abnormally constituted body with heterogeneous genetic composition) (Hsu et al. 1992). Other uncertainties about CVS are described below.
CVS
With the CVS we’re taking cells from the placenta. And this inconclusive result comes about because we’re sampling the placenta and because some of the cells in the placenta may be normal and others may not be. To do an amnio involves taking fluid that’s around the baby and looking at different cells altogether. Those cells in the fluid are not from the placenta. They’re from the baby directly. (A medical geneticist/proceduralist to a 37-year old woman in a private clinic.)48
Modell (1986: 1) has attributed early development of CVS techniques to new understandings in the 1940s about human fetal development. These theorised that the fetus and the chorion develop from the same fertilised egg.
Thus the chorionic villi (projections of the chorion) might be sampled in order to avoid harming the fetal body itself.49 In the early days of prenatal diagnosis, some researchers were highly confident about the shared genetic constitution of CVS sample and fetus, stating that ‘it is a fundamental fact that the placenta and the fetal membranes reflect the chromosomal and
48 U36W-C5/PT: 229. 49 Anatomical knowledge claims described the formation of the chorionic membrane as a layer of tissue that surrounds the fetus and lies within other layers of differentiating tissue between mother and fetus. The villi are projections of the chorion that are believed to be involved in blood flow between mother and fetus. They disappear by fourteen weeks gestation (Rodeck and Morsman 1983: 338-339). Chapter four: disciplining technology page 241 genetic constitution of the fetus’ (Kullander and Sandahl 1973). This sub- section describes uncertainties about the diagnostic products that have been negotiated with the development of the CVS procedure.
Diagnostic effectiveness was more easily investigated than safety in the early stages of investigating both CVS and amniocentesis.50 Interest in CVS waned, however, with perceptions of its higher diagnostic uncertainty compared with amniocentesis (Mohr 1968). As more reliable laboratory techniques were developed with amniocentesis, safety became the major issue of concern for CVS to be developed (see Section 4.2.2). In the early
1980s, when claims about its safety began to be accepted, interest then focussed on its use for rapid diagnosis as an improvement on amniocentesis.
The new CVS promised faster diagnosis. Not only could it fulfil the promise of being able to make a diagnosis earlier in pregnancy, it could enable new molecular diagnostic techniques to be added into the prenatal diagnosis package. DNA analysis could provide accurate and fast diagnosis for a much larger range of genetic abnormalities at the sub-chromosomal level of abnormality (Firth 1997: 1313). Samples taken after amniocentesis require two to three weeks of tissue culture to provide enough cells for analysis. The larger number of cells in a CVS sample promised rapid analysis directly of the sample, especially using molecular genetic laboratory techniques (Kazy,
Rozovsky, and Bakharev 1982; Ward and Modell 1987). There was also an early report of CVS successfully diagnosing the chromosomal abnormality of
Down syndrome using a direct method of karyotyping (Brambati and Simoni
50 Early experiments were done on women who already intended to abort, or who were willing to risk a procedure-induced abortion rather than give birth to a child with a serious genetic abnormality. These experiments could not easily examine long-term safety effects on the fetus. Chapter four: disciplining technology page 242
1983). A review published that year predicted that CVS would have greater diagnostic certainty than amniocentesis, because direct chromosomal analysis would avoid abnormalities induced by maternal contamination of cell culture (Rodeck and Morsman 1983). However, the review also raised questions about diagnostic uncertainties due to the origins of the sample and
‘whether chorionic tissue is completely representative of the fetus’ (Rodeck and Morsman 1983). Section 4.2.2 discusses this in more detail.
By the end of 1988 more than 50,000 CVS procedures had been documented worldwide (Jackson 1991: 44). It had become the favoured procedure for early and rapid diagnosis of either metabolic abnormalities
(using biochemical tests) or genetic mutations (using DNA tests) (Ferguson-
Smith 1991: 490).51 By the time I was doing fieldwork for this project in the early 1990s, several major studies on CVS had been published (Canadian
Collaborative CVS-Amniocentesis Clinical Trial Group 1989; MRC Working
Party 1991; Rhoads et al. 1989). These negotiated consensus that the diagnostic accuracy of CVS had been ‘well demonstrated’ (Jackson 1991:
47).52 In 1992, a major US study on CVS reported a diagnostic success rate for
CVS of 99 percent (Jackson and the US NICHD Chorion Villus Sampling and
Amniocentesis Study Group 1992), and high diagnostic accuracy for biochemical and molecular testing (Desnick et al. 1992). However, some controversy lingered. For example, placental mosaicism had been the ‘major talking point’ at an international conference in 1990 (Ferguson-Smith 1991:
51 The first report of CVS that triggered its development described the researchers’ aim was to find a cheap and simple method for diagnosing hemoglobinopathies in developing and developed countries.’ They reported an 89 percent success rate (Ward, Modell, Petrou, Karagözlü, and Douratsos 1983). 52 The author qualified his claim about the strength of empirical evidence by stating that it ‘masks certain problems in the cytogenetic study of CVS samples when compared to the processing of amniocentesis specimens’ (Jackson 1991: 47). Chapter four: disciplining technology page 243
490). Other investigators concluded that the direct method ‘should not be used as the sole diagnostic technique,’ but should be confirmed by long-term culture. Moreover, despite its greater uncertainties, the short-term culture method could reduce the less common but still present uncertainties from
‘maternal contamination’ in long-term culture (small numbers of maternal cells in the sample can grow in culture to produce ‘pseudomosaicism’ and, if originally present in large enough numbers, can be mistaken for the fetal body itself) (Ledbetter et al. 1992: 317-318). In Australia two reports confirmed overseas studies that CVS was an ‘acceptable diagnostic test’
(Anderson, Smith, Trent, Boogert, and Ellwood 1991: 657), despite diagnostic uncertainties still occurring that required a small number of women to have an amniocentesis test later (Anderson et al. 1991: 657; Wass, Brown, Warren, and Saville 1991: 244).
According to a report in the literature at the time fieldwork was done for this study, there was a diagnostic error rate with CVS of about one percent compared with about 0.3 percent for amniocentesis (Ledbetter et al.
1992). This uncertainty was described in the observed genetic counselling clinics. The difference was explained in terms of the identity of the sample: amniocentesis was ‘a much truer reflection of the baby’s chromosomes.’53
Two main reasons were given. Firstly, there was an origins story about a lack of equivalence between the identity of the fetal body and chorionic tissue, despite both having a shared origin. In addition, some chorionic tissue was claimed to have a chromosomally heterogeneous identity (‘placental mosaicism’). The text above is an example of the latter, taken from an
53 U34W-C30; C30: 294. Chapter four: disciplining technology page 244 observed genetic counselling clinic. Secondly, there was a story about transgression of boundaries between chorionic and maternal tissue
(‘maternal contamination’). An example from an observed genetic counselling clinic is shown below:
Because the test is earlier on there are some complications sometimes. And one of those is contaminating the specimen that’s got with some of the mother’s cells, because this chorion, or afterbirth, is stuck so tightly to the wall of the uterus that sometimes some of the mother’s cells come off with that. (A genetic counsellor to a 42-year old woman in the publicly funded clinic.)54
Diagnostic uncertainty also arose due to failure to obtain a sample. This sometimes was explained in terms of abnormalities of the maternal body, as shown in the following excerpts from observed genetic counselling clinics:
I think that’s more of a problem with extremely overweight women, where it’s very hard to actually get access to the uterus with the needle because there’s just too much to get through. (A genetic counsellor in training with a 37-year old woman and her partner in the publicly funded clinic.)55
So occasionally, very occasionally because of how you’re uterus is, the position of your uterus, the position of the placenta and the baby in the uterus, they aren’t able to get a specimen. (A medical geneticist in training to a 37-year old woman in the mixed public/private clinic)56
As described at the beginning of this section, differences in diagnostic certainty between amniocentesis and CVS occasionally were ignored in observed genetic counselling sessions, in order to stress uncertainties common to both. For example, when one client repeatedly wanted to know which was the more accurate test, the doctor responded by acknowledging the uncertainties but claimed that they were acceptable and equivalent:
54 U22W/M-G3: 334-343. 55 U48W/M-G6/PT: 744-756. 56 U45W/M-C31: 495. Chapter four: disciplining technology page 245
In terms of the accuracy, they’re probably of equivalent accuracy. But I guess we can’t ever say anything is absolutely one hundred percent. One can never cast iron guarantee that a mistake would never be made. But within the realms of possibility these are accurate tests. They are very accurate tests. (A medical geneticist in training to a 39-year old woman in the publicly funded clinic.)57
On the other hand, if an uncertain diagnosis was identified after CVS then amniocentesis, as the gold standard, was the next recourse. In such cases, claims about the higher diagnostic certainty of amniocentesis were mobilised. The example below shows how this certainty was articulated in a more directive genetic counselling approach. The health professional would now ‘recommend’ amniocentesis:
If that happens, and it is a confusing result [after CVS], then what would normally happen is that you’d be recommended that you have an amniocentesis just to confirm that. Because amniocentesis is usually a much truer reflection of the baby’s chromosomes...... And as I said, ninety nine percent of the time CVS is not a problem. You get a result that’s accurate and true and not confusing and everything’s fine...... The good thing is that, really, these cells [from an amniocentesis] reflect accurately with the baby’s chromosomes. So that with an amniotic fluid it’s much, much, much less likely that you’re going to have a suspect results. As opposed to CVS. Just because it’s the way it’s done and what it tests. So, you know, probably nine hundred and ninety thousand nine hundred and ninety nine times out of a million it’s going to reflect the baby’s chromosomes. (A medical geneticist in training to a 39-year old woman in the publicly funded clinic.)58
The emotional burden of diagnostic uncertainties was occasionally openly acknowledged in observed genetic counselling clinics. For example, when discussing the possibility of maternal contamination of the CVS sample, one doctor stated:
57 U14W-C29: 740-744. 58 U34W-C30; C30: 294-326. Chapter four: disciplining technology page 246
That’s the problem, that’s the scary part of it. I mean, if it comes back ‘a normal female’ we say ‘Oh, well, the baby is a normal female’. But it could be you, you see. (A medical geneticist in training to a 39-year old woman in the publicly funded clinic.)59
However, the burden of fear could refer to either the pregnant woman’s fear of an abnormality in her fetus or to the health professional’s fear of litigation due to an incorrect diagnosis (or both).
Ultrasound
[Ultrasound is] not one hundred percent accurate in that it can’t pick up everything. It may miss something that’s there. But they’re pretty good. (A genetic counsellor to a 40-year old woman in the publicly funded clinic.)60
So, at about eighteen weeks the baby’s quite identifiable, you can look at the features of the baby using a detailed ultrasound. Earlier ultrasounds really just give you just a very little bit of information about the growth of the baby. At eighteen weeks you can get a good look at many things. … Detailed ultrasounds can detect major problems if they’re present, but again like all tests they sometimes miss major problems. They’re a good screening test but they’re not a one hundred percent guarantee-type test either. (A medical geneticist to a 39-year old woman in the publicly funded clinic.)61
At the time that fieldwork was done for this project, ultrasound was an overwhelmingly popular tool in pregnancy management. US experts concluded at that time that ‘the ability of ultrasound examination to determine gestational age, detect multiple gestations, and assess fetal well- being by diagnosing growth and fluid abnormalities has changed the practice of obstetrics more than any other technology in recent years (Garmel and
D'Alton 1994: 129). Pregnancy management has been the most popular
59 U26W-C29; C29: 267. 60 U19W-G3; G3: 471, 475. 61 U47W-C10; C10: 356, 357. Chapter four: disciplining technology page 247 application of ultrasound.62 In Australia by the mid-1990s ultrasound comprised over 20 percent of all ultrasound scans (450,000 ultrasound scans were done during pregnancy for an annual birth rate of 250,000). That is, women were having about two ultrasound scans during a pregnancy (a lower rate than in many other developed nations). The pregnancy-related scans cost the federal government more than $33 million in Medicare payments that year (AHTAC 1998: 41-42). Moreover, the equipment itself can be very expensive to buy. There is a wide range of ultrasound equipment available. In the mid-1990s, a simple desktop machine for general obstetric purposes cost between $20,000 to $40,000, whilst a colour Doppler, multi-channel machine suitable for the second semester fetal anomaly scan cost between
$200,000 to $300,000 (AHTAC 1998: 6). The rate of technological change was so great that one clinic in this project replaced machines costing about
$300,000 machines with new ‘improved’ models every year.63 Nevertheless, regulation of health professionals who perform ultrasound examinations has been slow to develop, as noted by an expert in prenatal diagnosis at the time that fieldwork was done for this project. Referring to a study in Perth,
Western Australia, which found that only 40 percent of fetuses with spina bifida were detected by ultrasound compared with and expected detection rate of 95 percent, he complained about the wide lack of training and the government’s payment of the same Medicare rebate to the doctor, irrespective of the type (and, thus, expense) of the equipment (de Crespigny
1994: 11). In mid-1998 there were no requirements for ultrasound practitioners to receive specific accredited training in Australia (AHTAC
62 Ultrasound pictures were the major focus for discussion at observed pre-clinical meetings in this study.62 63 GC4/7Diary19/7/93: 18. Chapter four: disciplining technology page 248
1998), nor later in the UK in mid-2000 (RCOG 2000). Controversy has continued to the present about the diagnostic effectiveness of ultrasound because of conflicting evidence from studies in the US (Ewigman et al. 1993) and Europe (Levi and Montenegro 1998). The former (the RADIUS study) found very low diagnostic certainty from routine ultrasound screening in the
US compared with the Eurofetus study—detection rates were 35 compared with 61 percent respectively (Ewigman 1993). Although Australian obstetricians appear to have agreed with RACOG’s support of the RADIUS study, most of their counterparts in the US disagreed with their College. In a report on a conference held to negotiate consensus, the authors argued in favour of routine ultrasound—especially the 18-week fetal anomaly scan—but only if it was ‘performed in a quality manner’ (Levi and Chervenak 1998: ix).
In observed genetic counselling clinics, health professionals constructed ultrasound as a worthwhile diagnostic technology to consider. The non- directive model of genetic counselling did not appear to be considered relevant with either ultrasound test, apparently due to ultrasound’s perceived overall safety (see Section 4.2.3). All women attending the observed genetic counselling clinics who were considered at high risk of having a fetus with a chromosomal abnormality were advised to have a dating ultrasound and also routinely booked in for a ‘fetal anomalies scan’ at about 18 weeks gestation.
One 39-year old woman in the private clinic specifically stated that she wanted the ultrasound, irrespective of whether she had any procedure (she decided to have a CVS).64 However, the 18-week scan’s diagnostic accuracy for any chromosomal abnormality was stated to be only about sixty five to
64 U43W/M-C5/PT: 505. Chapter four: disciplining technology page 249 seventy percent,65 sufficient for it to be described only as a ‘chromosome screen.’66 Ultrasound’s diagnostic uncertainty with Down syndrome was observed at one pre-clinical meeting, where the doctors expressed concern that an abnormality had not been detected during an 18-week fetal anomaly scan. It was only detected at 27 weeks’ gestation when the obstetrician was unable to intervene, as the gestational age was later than that allowed for legal abortion.67 As litigation has become a major concern for health professionals, a leading Australian gynecological expert warned his colleagues to limit ultrasound film ‘souvenirs’ that they give their patients, to exclude pictures of internal organs. Over fifty legal proceedings involving pregnancy ultrasound had been initiated in Australia at that time, and women were using the films to get medical advice that a fetal abnormality should have been diagnosed (Robotham 1999).
In observed genetic counselling clinics, a normalising discourse described a reassuring role for ultrasound. A doctor told a couple that it could
‘reassure you ... to see that it would be normal.’68 And another client recounted her own reassurance story in response, as shown in the following extract:
Doctor: So the odds are still well in your favour that this pregnancy is going to have a normal baby like your last one. Client: Well, I’m saying that it’s going to be normal. Doctor: Yeah. So Client: But at first when I didn’t feel anything, any movement, I thought ‘Oh, my God, it’s dead or something’, when I was having him. And then when I had an ultrasound and saw it kicking around, getting around without anything wrong with it
65 U46W-C31/PT; C31: 318. 66 U45W/M-C31; C31: 346, 351, 355. Again, the excerpts shown from observed genetic counselling clinics shown at the beginning of this sub-section illustrate how doctors gave more detailed descriptions than did genetic counsellors. 67 GC2/3Diary26/10/93. 68 U45W/M-C31: 764-768 Chapter four: disciplining technology page 250
Doctor: Good Client: So, I’m going Doctor: You’re being positive with this one as well? Client: Yeah. I’m quite healthy. [Laughs] (A medical geneticist in training with a 37-year old woman in the mixed public/private clinic.)69
Reassurance can be the result of diagnostic certainty that, for ultrasound, varies according to its use. Used in the first trimester, diagnostic certainty is strong for detecting fetal number, presence of heartbeat, and size for estimating gestational age (the dating ultrasound). In the private clinic, I observed the following conversation while the doctor did a dating ultrasound:
Doctor: There’s an arm moving there, too. The head, down there. ... So, I want to give you this picture. OK? It shows the baby’s head and body and there’s the measurement, a bit over four centimetres. Equivalent to eleven weeks. Due on the twenty third of May according to that. That’s for you to keep. ... Client: [Indicates ultrasound photo] And that little tiny spot shouldn’t mean anything? Doctor: Not of any significance. The scan today is quite normal. (A medical geneticist/proceduralist and a 39-year old woman in the private clinic.)70
The health professional was able to mobilise the high diagnostic certainty of the dating ultrasound to articulate medical authority as a reassuring act: he transformed an artefact (an image with a threatening ‘spot’) into a beneficent fact (gifts of both the artefact and the clinical judgement of ‘quite normal’).
Dating ultrasound comprises diagnosis from both quantitative and qualitative data. The earliest diagnostic use of ultrasound was for the measurement of the diameter of the fetal skull, first reported in the 1960s
69 U28W-C14: 158-176. The client was reassured by the ultrasound depicting fetal movement she had not yet felt herself but had already constructed as a sign of her body and her baby being ‘healthy.’ 70 U43W/M-C5/PT; C5: 546-555, 625-627. Chapter four: disciplining technology page 251 and widely used since the 1970s. The dating ultrasound in the first trimester diagnoses gestational age by measuring crown-rump length (first developed in the early 1970s). It also diagnoses anatomical abnormalities such as hydrocephalus by measuring the skull (biparietal diameter and head circumference) (McNay and Fleming 1999). At the time of this study, dating ultrasound for all pregnant women had become a routinised part of prenatal care, despite the lack of randomised prospective studies. The benefits shown by small early studies had led rapidly to a widespread belief in its diagnostic efficacy so that it became no longer feasible to do large-scale studies, as it would not be possible to include controls (Campbell 1993).
Women’s certainty about their estimates of gestational date were consistently challenged by the imperative of accuracy for later diagnostic tests, an accuracy that could be provided only by ultrasound. Any doubts the woman had about recollecting the date of her last menstrual period, or any perceived abnormal functioning of her body (such as deviation from the norm of a 28-day menstrual cycle) were met by reassurances based on technological certainty.71 However, ultrasound was also strongly suggested even for women who were certain about their last menstrual period and who
71 U23W/M-C29/PT; U23W: 83; U26W-C29. Chapter four: disciplining technology page 252 menstruated regularly.72 Sometimes ultrasound was offered as a solution to the woman’s concerns that she may have calculated incorrectly. For example, some women expressed doubts about the apparent size of her baby being incongruent with the gestational age they had calculated.73 Other reasons justifying the use of a dating ultrasound were to detect that the fetus was alive from observing its heartbeat, and to detect multiple pregnancies, where that knowledge was understood to be useful for reducing risk.74
Controversy has accompanied the use of ultrasound for diagnosing chromosomally determined abnormalities, especially for women considered at low risk.75 As a result, it has been usually identified as a ‘screening’ test
(Seeds 1996) although its use has become standard practice for ‘high risk’ women. The historical roots of the second trimester fetal anomaly scan can be
72 For example: Client: But I’m pretty sure I conceived on about the 26th Genetic counsellor: I’m sure that’s right. But because the test calculates, takes into account the gestational age of the baby, it’s very important to have that Client: That gestational age is, that’s taken from the day that the first, of the very last period? Genetic counsellor: Yes Client: Not the date that you conceived? Genetic counsellor: No, it’s taken from the date of the last period. Client: Well, then that’s right. The seventh, seventh Genetic counsellor: Sometimes, sometimes dates can be a little bit out. Especially with pregnancies. It seems to be people think that their last period was such and such a time, or Client: Mm. No, mine was definitely just before we came on holidays. Genetic counsellor: And are your periods regular? Client: Yes. (U18W/M-G3: 496-521.) 73 (U38W-C33/PT: 449. Another client sneaked a look at her medical records while the genetic counsellor had briefly left the room. She told me she was interested in finding out her weight because she has a family history of large births and was wondering if her gestational date may have been earlier than that indicated by the apparent size of her fetus (U7W- G6C10; U7W: 953) 74 U34W-C30; C30: 371; U43W/M-C5/PT; C5: 552. 75 At the time that fieldwork was done for this project, eight studies on the second trimester ultrasound scan had reported a wide range in sensitivity (16 to 84 percent) although specificity was very high (99 to 100 percent) (AHTAC 1998). The sensitivity of a screening test is the probability that the result is a ‘true positive’ (ie, the individual has the abnormality and the test diagnoses it) with respect to the sum of ‘true positives’ and ‘false negatives.’ The specificity of a test is the probability that the result is a ‘true negative’ (ie, the individual does not have the abnormality and the test diagnoses it) with respect to the sum of ‘true negative’ and ‘false positive’ results (Hennekens and Buring 1987: 331). Chapter four: disciplining technology page 253 traced to 1972, when an anencephalic fetus was diagnosed by ultrasound in second trimester (Campbell, Holt, Johnstone, and May 1972). Ultrasound diagnosis of spina bifida was first described in 1975 (Campbell, Pryse-Daview,
Coltart, Seller, and Singer 1975). Development of high-resolution real-time ultrasound scanning technology76 led to the fetal anomaly scan becoming popular from the early 1980s. Despite its expense, the fetal anomaly scan had become routinised at the time of this study and, more recently, professionally endorsed (McNay and Fleming 1999: 45; RCOG 2000).77
For diagnosing chromosomal abnormalities in the fetus, claims began to multiply by the late 1980s that ultrasound could be diagnostically effective
(Abramowicz, Warsof, Doyle, Smith, and Levy 1989; Benacerraf, Barss, and
Laboda 1985; Gilbert and Nicolaides 1987; Hentemann, Rauskolb, Ulbrich, and Bartels 1989). A review at the time this study was done identified ten classes of anatomical abnormalities that had been linked with chromosomal abnormalities, with wide variation in estimates of diagnostic accuracy. For example, an international group of experts referred to a report that found a high detection rate of 87 percent but a false-positive rate of 11 percent
(Simpson and an International Working Group 1995). An Australian expert noted at that time that a routine ultrasound in a non-specialised clinic would detect no more than 50 percent of fetal abnormalities (Ellwood 1995: 55).
However, in specialised units ultrasound was used to screen for chromosomal abnormalities. It was used to detect abnormalities in ‘hard’ markers (eg, abnormalities of the heart, growth of fluid filled sacs in the neck) and ‘soft’
76 For real time ultrasound, the data is processed and reported at the same rate as it is collected. Hence the image is continually renewed to accommodate movements of the body. 77 Australian practices amongst those in my study seemed to be similar to those in many other Western countries, although the US at that time had not consistently routinised the fetal anomalies scan (O'Brien et al. 1993; Robinson 1993: 295; Romero 1993). Chapter four: disciplining technology page 254 markers (eg shortening of the diameter of the fetal head, thickening of the neck, and abnormalities of the fifth finger, bowel, upper bone of the arm or pelvis. Soft markers were those that were also often found in ‘normal’ fetuses
(Ellwood 1995: 35-38).
An early ‘marker’ for Down syndrome in the second trimester was that of a thickened area of skin behind the neck and skull (Benacerraf et al. 1985).
In the early 1990s, reports began to appear that favoured nuchal translucency
(an increased amount of subcutaneous fluid in the neck region) as a marker in ultrasound scanning for chromosomal abnormalities in the first trimester
(Nicolaides, Azar, Byrne, Mansur, and Marks 1992).78 It began to be widely available in Australia in the late 1990s (Lambert 1997). Its popularity for those in the prenatal diagnosis social world has been due, at least in part, to the efforts of the Fetal Medicine Foundation in London, which has trained health professionals from around the world. It has also been supported by knowledge claims that the screening test is equivalent to second trimester maternal serum screening in detection rate, but has the advantage of being able to be done earlier in pregnancy, when it can be confirmed by CVS, allowing for an earlier abortion (HGSA 2001). More recently, UK obstetricians have recommended a standardised protocol, detailing the specific parts of the fetal body to be examined and measured (RCOG 2000).
In Australia, a joint statement by ultrasound, obstetric and radiology experts on ultrasound was published towards the end of fieldwork for this project. It recommended 18-weeks gestation as the optimal time for an
78 The authors reported a 75 percent sensitivity if a nuchal thickness equal to or more than 3 mm was defined as an indicator of Down syndrome abnormality. However another expert found a success rate of less than 20 percent (Brambati et al (95) cited in Simpson and an International Working Group 1995: 801). Chapter four: disciplining technology page 255 ultrasound scan for both dating and anomaly purposes (O'Brien, Robinson, and Warren 1993), thus offering the opportunity to save costs with one scan only. More recently, a joint committee of the HGSA and RANZCOG has established ‘best practice’ guidelines. The committee recommended that women at high risk for chromosomal abnormality (eg, of ‘advanced maternal age’) should be ‘offered the choice’ of ultrasound scanning or maternal serum screening, in addition to amniocentesis and CVS. Other pregnant women should be ‘made aware of (their) availability.’ Moreover, the ultrasound scans should only be done by trained operators using approved computer software
(HGSA 2001; RANZCOG 1998).79 Both organizations acknowledged the diagnostic uncertainties and yet cautiously recommended its qualified use.
The HGSA however provided greater contextual detail, and warned that ultrasound should not be a ‘primary screening test,’ implying that maternal serum screening was preferable (HGSA 2001). This position echoed that by an international committee of experts (Simpson and an International
Working Group 1995). The apparent resistance by obstetricians to curtail ultrasound use appears to be related to their higher dependence on the technology in their medical practices (eg, my observations of pre-clinical discussion meetings—see above).
Despite contested results from various studies, ultrasound screening for chromosomal abnormality has been widely judged to have an internationally acceptable diagnostic accuracy (even if largely for screening purposes), based
79 Omitted by RANZCOG but included in HGSA policy were details about diagnostic uncertainties. South Australian data found a second trimester ultrasound detected only 40 percent of fetuses with Down syndrome. The HGSA also expressed concerns about a lack of large-scale studies, difficulties in devising a way to quantify risk using the range of ‘markers’ used, an ‘unacceptable rate of high risk results’, and ‘maternal anxiety’ from uncertain and conflicting diagnoses. It concluded that ‘available data do not support [second trimester ultrasound] as a primary screening test for DS, mainly because of the low detection rate, but also because the high risk result rate would be high’ (HGSA 2001). Chapter four: disciplining technology page 256 on an estimated diagnostic accuracy of about 80 percent (Luck 1992; Pearce
1990; Seeds 1996).80 Contradictory lower estimates81 have been explained away by a range of factors, including the skills and interests of the people doing the test, the location of the testing site (eg, a specialised unit in a teaching hospital), the method of calculation (eg, counting the abnormal fetus or the abnormality itself, where one fetus may have multiple abnormalities), and the population studied (eg, the exclusion of women who were considered high risk) (Dooley 1999).
Amniocentesis was the gold standard for judging diagnostic uncertainty in ultrasound (see the excerpt from a genetic counselling at the beginning of this section). Occasionally ultrasound could act as an aid to resolve prognostic uncertainties after an amniocentesis diagnosis of Down syndrome in the fetus. Ultrasound could predict the severity of effects by visualising anatomical abnormalities in the fetus:
Once we know the baby has Down syndrome then an ultrasound examination will tell you if it has heart defects or, you know, intestinal problems. So it’ll give you some assessment. Because, as you may know, you may have Down syndrome children who really aren’t a problem to bring up at all. (A medical geneticist in training to a 36-year old woman in the publicly funded clinic.) 82
In one observed genetic counselling clinic, the doctor advised that he used ultrasound during an amniocentesis not only as a guide but also to ‘get a really good look’ at the fetus at the same time. Nevertheless, if he did the
80 A genetic counsellor gave a similar estimate of 80 percent in an interview for this study. G3i3: 675 81 Six major studies in Europe were published in the late 1980s and early 1990s that all gave evidence of benefits from routine fetal anomaly scanning for diagnosis of any fetal abnormality. A large-scale randomised clinical trial in the US had reported contradictory results in 1993 but its methodology was strongly criticised (Romero 1993; Seeds 1996: 815- 816). Moreover, at that time reported diagnostic accuracy varied widely, some well below the accepted figure of 80 percent (Dooley 1999: 745; Romero 1993: 304 & 306). 82 U17W-C32: 577-579. Chapter four: disciplining technology page 257 amniocentesis early, say at 14 weeks’ gestation, and still had doubts because he didn’t ‘get a good enough look’, he would ask the woman to return at 18 weeks’ gestation.83 Ultrasound also could occasionally identify maternal contamination in cell cultures after an amniocentesis or CVS. If a karyotype identified a female fetus but the ultrasound identified a male fetus because of the anatomical sign of a penis, then the karyotype was re-identified as due to maternal contamination.84 In an observed genetic counselling clinic, the medical geneticist offered CVS as well as the additional tests of ultrasound and maternal serum screening to reassure a 35-year old woman. The rhetoric of choice was not used to discuss the advantage of a ‘routine’ ultrasound that also could detect non-chromosomal abnormalities.85
At the time that fieldwork was done for this project, some experts in ultrasound favourably compared ultrasound to maternal serum screening, based on claims about their approximate equivalence in diagnostic certainty
(Nicolaides and Campbell 1992). However, at that time there were many who thought otherwise, and controversy has continued to date. Some have claimed that ultrasound screening could be improved by combining it with maternal serum screening, and by doing the tests earlier in the first trimester
(Nicolaides, Snijders, and Cuckle 1998; Reynolds et al. 1998; Wald and
Hackshaw 1997). However, some of those experts claimed that a better screening test was maternal serum screening using four biochemical markers in the second trimester (Dissenting opinion by Alberman Marteau and Wald in RCOG 1997). Others have been more cautious, waiting for what was considered better evidence from prospective controlled studies (HGSA 2001).
83 U32W/M-C5/PT; C5: 220-225. 84 U26W-C29; C29: 271. 85 U9w-C10/PT; C10: 314. Chapter four: disciplining technology page 258
However, whilst negotiating the optimal gestational period for testing, particular technological refinements and regulation of professional skills, current opinion on ultrasound’s diagnostic certainty appears to be re- standardising the prenatal diagnosis package to incorporate the new screening tests of ultrasound with maternal serum screening.
Maternal serum screening
It’s pretty difficult to explain this because it’s not actually a test. It’s a screen. Amnio and CVS give the laboratory a picture of the baby’s chromosomes so they know ninety nine point nine percent it doesn’t have Down syndrome or it does have Down syndrome. With the triple screen, it’s a screen. And some women who are given a low risk can still have a baby with Down syndrome. And women who are given a high risk, it doesn’t mean that they’re having a baby with Down syndrome. Currently, it’s picking up about sixty to sixty-five percent of Down syndrome pregnancies. ... So it’s not a one hundred percent unarguable result. And most women who do get into the high result, or even if they’re still worried, even if it says you’ve got a low risk, they can still say ‘Well, this test doesn’t give me all Down syndromes. I’d like to have an amnio.’ (A genetic counsellor in training to a 37-year old woman in the publicly funded clinic)86
The fieldwork for this project occurred at a time when maternal serum screening was an even more controversial screening test. The triple screen—one particular form of maternal serum screening test—was beginning to successfully challenge the highly stabilised position of maternal age in the prenatal diagnosis standardised package (for a history of the development of the triple screen see Chapter five, Section 5.3). Like second semester ultrasound screening for chromosomal abnormality, the triple screen was becoming a routine test for women during pregnancy. For the public clinic in this study, women were automatically booked in for a triple screen at 15 to 16 weeks’ gestation. An evaluation of a local pilot program had just confirmed
86 U8W-G6; G6: 352-353, 357. Chapter four: disciplining technology page 259 the detection rate of the triple screen to be as predicted and reported overseas
(Winder, Andronicos, and Khouri 1992). Nevertheless, the triple screen’s diagnostic certainty was enmeshed in controversy, as evidenced by the following range of opinions expressed by some of those who received and provided genetic counselling in this study:
I think it’s a bad screening test. (Interview with a genetic counsellor in training)87
(T)he triple screen is a whole bunch of new information. That’s something that’s really difficult to process because information there is so conflicting. (Interview with a genetic counsellor)88 The fifth option is to have the blood test. But I guess I’m a bit uncertain about the blood tests. ... But some people find it reassuring. (A medical geneticist in training to a 37-year old woman and her partner)89
Genetic counsellor: And the blood test is a screening test for Down syndrome and doesn’t give you any answers; it gives you an indication as to whether you’re at a risk. Client: I thought that was just a theory Genetic counsellor: No, it’s not a theory. It’s not a theory. There definitely seems to be indicators in the blood that are changed if the baby has Down syndrome. The trouble is they don’t always change because the baby has Down syndrome. And quite often they change when there isn’t a baby with Down syndrome. (Genetic counsellor to 37-year old woman in the public clinic.)90
Some say [the triple screen is] a more accurate estimate of what the risk might be for Down syndrome, because it’s not just factoring your age into the estimate of risk. Now, we talked about what your risk might be based upon just your age. But this analysis involves looking at more than just your age as a variable. So, because more variables are considered, it is believed possibly this could be a more accurate risk estimate. (A medical geneticist/proceduralist to a 34-year old woman and her partner)91
87 C6i1: 731. 88 G3i3: 741. 89 U45W/M-C31; C31: 385, 389. 90 U18W/M-G3; G3: 177, 182-185. 91 U32W/M-C5/P; C5: 128-132, 141-143. Chapter four: disciplining technology page 260
Usually, health professionals who do genetic counselling regularly deal with uncertainty in risk estimates. For example, one doctor interviewed in this study laughingly complained that:
There are lots of situations where you can’t really strictly put a number on it. You know, ‘Your risk is somewhere between one in four and one in fifty’. But that’s quite often what genetics comes down to. … Most cases will be sporadic but there are five reported cases for autosomal recessive, or the fact that you’ve had two, or something. And you’ll tell, [laughs] ‘your risk is one in four to one in fifty and it’s somewhere in between.’ … And I’m juggling the numbers and saying ‘it’s likely to be more on this side’ when in fact you haven’t got a clue, you’re going on a gut, flying by the seat of your pants. So they are a problem. (Interview with proceduralist.)92
For many health professionals providing genetic counselling, maternal age had higher certainty than risks for other genetic abnormalities that they might have to provide. The risks for maternal age screening—a familiar component of the prenatal diagnosis standardised package—were derived from empirical data that could be presented in a table (see Figure 3, Chapter two) and easily used by a range of actors (see Chapter five for its ease of use for regulating access to prenatal diagnosis).
Like maternal age screening, the new tool of maternal serum screening did not require the health professional to calculate risk. However, controversy came with uncertainties in the risk it produced, which required negotiating confidence in the tool and in interpreting the risk for the client.
Some maternal serum screening tests, such as the triple screen, were based on the already accepted maternal age empirical data. However, that risk was modified using the results of measured amounts of particular biochemicals in serum from maternal blood. The calculations were complex, requiring
92 C6i2: 430-431. Chapter four: disciplining technology page 261 computer software. Controversies centred on negotiating which biochemicals were the best diagnostic tools, what other factors (eg, maternal weight, race, other unknown demographic differences) might play a role (see Chapter five), and how to improve its diagnostic certainty.
In genetic counselling clinics I observed many clients reject further screening with maternal serum testing. Instead, most wanted direct access to the technologies of higher diagnostic certainty—amniocentesis or CVS.93
Even amongst the target group for the triple screen—women just below the
37-year minimum age limit—there were many who had already accepted maternal age screening and rejected the triple screen. Despite the uncertainties associated with maternal age screening and amniocentesis diagnosis, their reasons were that the triple screen was ‘not accurate’94and because ‘amniocentesis is the only one hundred percent test’.95 One woman just below the age limit was unusual in that she resisted claims about increasing risk for chromosomal abnormality in the fetus with increasing maternal age (because of ‘the way I feel inside’). The triple screen offered her the opportunity to test those claims
I think I would prefer to find how great are the odds, see if the odds stack up differently. That, to me, would be a logical choice. Let’s find out if the odds change at all. (A 36-year old woman to a proceduralist in the public clinic)96
For those who provided genetic counselling, the triple screen was
‘difficult to explain.’ Figure 10 (sub-section 4.1.1) illustrates the uncertainty in diagnosis because of significant overlap between normal and abnormal values
93 Some also had learned to trust amniocentesis or CVS from previous experience, when they did not experience subsequent harm (eg, U14W-C29; C29: 902). 94 For example, U16W-C14/PT; U16W: 20 95 U11W/M-G3/PT; U11W: 50 96 U17W-C32; U17W: 498-502 Chapter four: disciplining technology page 262 for the three biochemical indicators. Difficulties are compounded by the wide variation in empirically derived population norm. Concerns have focused on the consequent wide margin for error from high numbers of false positive and false negative results (see Chapter five). Even a medical geneticist who was actively involved in setting up the pilot triple screen program was observed to voice these concerns in the clinic:
But, what I need to stress with you is that because it’s not a diagnostic test it doesn't tell you whether the baby’s affected or not. There are cases that we are going to miss. And because it’s assessing risk, there are cases where we are going to presume that you’re at increased risk when you’re not. So, there are false positives and negatives that are associated with this. And some people don't like it because of that. (A medical geneticist/proceduralist to a 37-year old woman in the private clinic).97
One way that those who provided genetic counselling in this study addressed these concerns was by disciplining their own and others’ speech.
They carefully chose language to construct the triple screen’s identity as a
‘screening’ test, in contrast to a ‘diagnostic test.’ For example, see the excerpt at the beginning of this section: ‘it’s not actually a test. It’s a screen’. They extended disciplining of professional speech to other health professionals.
For example, a guide for health professionals stated ‘the risk estimate is not a diagnosis of a fetal anomaly,’ and that, for women aged 37 years or more, it was ‘not a substitute for genetic counselling and prenatal diagnosis.’
(emphasis in original) (Royal North Shore Hospital 1993: 6-7).98 In an interview, one medical geneticist in training told a moral tale that criticised a friend’s doctor because he had told her friend that the triple screen had given
97 U31W-C5/PT; C5: 351, 358-359. 98 I use the same terminology in order to identify not only the diagnostic uncertainty of maternal serum tests but also their use as a screening tool for regulating access to prenatal diagnosis. Chapter four: disciplining technology page 263 a ‘normal’ result, when he should have told her the result was ‘low risk’.99
Sometimes, however, they ‘forgot’ to police their speech, leading to inconsistencies:
And the blood test is a screening test for Down syndrome and doesn’t give you any answers. It gives you an indication as to whether you’re at a high risk. ... So it’s only a risk test. ... you could get a normal result with the blood test but still have a baby with Down syndrome. (A genetic counsellor to a 37-year old woman and her partner)100
From this example, false negative, rather than positive, results might have been of greater concern to the health professionals who do genetic counselling, the implication being that they prioritised accurate representation of the fetal body over harm to parental emotions (ie, the fetal body was of higher priority than parental rationality). Another linguistic strategy in response to the perceived difficulties was to go into greater detail when describing the triple screen. I observed both doctors and genetic counsellors did this, although not to the extent of, for example, providing graphical representations such as the complex diagram shown in Figure 10).
In contrast, maternal age screening required only a relatively simple chart
(see Figure 5, Chapter 2).
A linguistic strategy of resistance was to sometimes not inform older women about the triple screen, especially older women whose serum profile was unlikely to reduce their age-related risk. 101 Some resisted the triple screen by comparing it unfavourably with the triple screen’s forerunner—
99 C30i1: 961-973. 100 U18W/M-G3; G3: 177, 181, 469. 101 For example, one genetic counsellor described how she had done this for a 41-year old woman she had counselled (G3i3: 468-470). However, as she identified the client as Vietnamese, another reason may have been that she perceived language barriers as an additional obstacle to the woman’s understanding of the complex genetically determined biochemical body that the test constructed. Chapter four: disciplining technology page 264
MSAFP screening for neural tube abnormalities. Its higher diagnostic certainty was already well established, especially in the UK, at the time of this project.102 For example, one medical geneticist said in an interview:
I suppose I worry that the triple screen is marvellous for neural tube defects. And so it should be universal for neural tube defects because it’s got such good reliability really. And it’s not really so good for Downs. (Interview with medical geneticist.)103
However, a common strategy for resisting the triple screen was in its use for older women, where they claimed that maternal age screening alone had greater diagnostic certainty. ACOG recommended that obstetricians advise women aged over 35 years of the likely finding of a raised positive result from maternal serum screening (a false positive), and of the better diagnostic ability of CVS or amniocentesis (ACOG 1994). The false positive can be due to biased ‘weighting’ of older maternal ages in the mathematical calculations stored in the computer software (Royal North Shore Hospital 1993).104
Health professionals observed in this study gave this information during genetic counselling, and some made their judgements about this quite clear:
Now, the thing about the triple test is it’s very age weighted when they put the equation in the computer. ... So, it measures things from the baby. But it also puts in your age. And, because of your age it would tend to push you into a higher result anyway. ... But it’s not, it’s absolutely not a good way to screen for problems in women over about thirty-eight, thirty-seven or thirty-eight. (A medical geneticist to a 39-year old woman in the public clinic)105
102 The role of MSAFP as a gold standard was derived from the 1977 study that claimed MSAFP testing could detect 88 percent of anencephaly and 79 percent of open spina bifida in the fetus with a rate of 3 percent ‘false positives’ (UK Collaborative Study on Alpha- fetoprotein in Relation to Neural-tube Defects 1977). In one observed genetic counselling clinic, the client was told that in combination with ultrasound its detection rate was well over 90 percent.102 103 C3i1: 276-280. 104 The 1992 UK paper itself noted that the false positive rate was six times higher for women aged 37 years or more (22 percent) compared with younger women (about 5 percent) (Wald et al. 1992a: 392). Others reported even higher rates for women over 40 years (69 percent) (Topping, McCormack, and Howells 1992). 105 U47W-C10; C10: 74, 376-378, 388. Chapter four: disciplining technology page 265
Maternal age, as used in the long-established prenatal diagnosis standardised package, was the yardstick for setting a ‘cut-off’ level in order to judge whether a triple screen result gave a raised or lower risk of chromosomal abnormality. That level is usually set to be equal to the maternal age risk already established in the prenatal diagnosis package, such as the 37-year age risk of 1 in 250 (Royal North Shore Hospital 1993: 6). Thus the position of the maternal age screening test as part of the prenatal diagnosis standardised package was determining how newer technologies could be grafted into the package. As another screening test, the triple screen’s position within the package emphasised the greater diagnostic certainty of the procedures. As a result, the karyotype produced from the procedural samples materialised a genetic body more strongly than did screening tests. For example, in one observed clinic the doctor compared the triple screen unfavourably with amniocentesis and CVS, which gave ‘black and white results as far as the chromosomes are going.’106 In another, the genetic counsellor pointed out the difference between an uncertain ‘risk’ and the greater certainty of the karyotype:
But if you do have one of these two, the amnio or the CVS, then the triple screen is really not going to give you much more information because these are going to tell us a lot more. Rather than giving us a risk and a number, these tests actually give us what the chromosomes of the baby are. (A genetic counsellor in training to a 38-year old woman in the public clinic.)107
The UK researchers who developed the triple screen have compared it positively in comparison to maternal age screening alone (Haddow 1998:
106 U39W/M-C33; C33: 960. 107 U50W-G6; G6: 350, 385. Chapter four: disciplining technology page 266
336; Wald, Kennard, Densem, Chard, and Butler 1992b).108 Furthermore, a contemporary textbook published in the UK and used by those who provided genetic counselling in this study, recommended the triple screen as a better screening technology than maternal age alone (Lilford 1990:89). The tide of opinion was swinging in favour of the triple screen’s diagnostic certainty compared with maternal age alone. For some, the risk figure generated by the triple screen provided a ‘truer’ diagnosis for that individual than did maternal age screening alone. They perceived greater certainty about individual identity from the triple screen, although the risk figures for both it and maternal age screening were derived from norms based on population surveys. In an interview the nurse counsellor stated that some clients preferred the triple screen because they wanted ‘some more information about me rather than a textbook figure of everyone my age.’109 A client confirmed this in an observed genetic counselling session when he concluded:
So what they’re doing is they’re looking at you as an individual rather than an overall survey. (The partner of a 37-year old woman to a genetic counsellor in training in the public clinic)110
108 The landmark papers on the triple screen published in 1988 and 1992 had claimed that the triple screen was sufficiently accurate and sensitive, with a detection rate of about 50 to 60 percent of fetuses with Down syndrome and a false positive rate of about 4 percent overall (Haddow et al. 1992: 592; Wald et al. 1988b; Wald et al. 1992a: 392). They judged this acceptable because it doubled the detection rate, with no increase in false positive results, compared with maternal age screening that detected only about 30 percent of fetuses with Down syndrome, with a 5 percent false positive rate. Australian data discussed at an observed preclinical meeting confirmed this by showing a detection rate (40 percent) that was equivalent to that of amniocentesis or CVS after screening by maternal age (30 percent) and high level ultrasound (10 percent) (GC4/7Diary26/7/93: 15-16). 109 G4i3: 572. 110 U48W/M-G6/PT; G6: U48M: 440. Chapter four: disciplining technology page 267
Despite the diagnostic uncertainties of screening tests, those who provided genetic counselling in this study sometimes offered the triple screen as a tool for providing reassurance about fetal normality:
But some people find [the triple screen] reassuring. So that if it actually reduced your risk then you’d be in a situation that you would have been in your twenties. I mean, everyone runs some risk of having a child—so that what it would do is reduce your risk. Which is what I was talking about the ultrasound. ... But, really, with the ultrasound what you do is you change your risk back to what it would be when you were about in your mid-twenties or something. So it doesn’t take the risk away of having a child with Down syndrome. ... But mostly ultrasound is to reassure you rather than to detect abnormalities—a bit like, you’re really looking to see that it would be normal. (A medical geneticist in training to a 37-year old woman and her partner in the mixed public/private clinic)111
A response by the research community to the controversies about the triple screen has been to search for ways to improve it (see Chapter 5). At the time that fieldwork for this project, there had been reports about a new maternal serum indicator of Down syndrome in the fetus. PAPP-A
(pregnancy-associated plasma protein A) concentrations in maternal serum during the first trimester were reported to be lower than normal when the fetus had Down syndrome. Thus PAPP-A was a suitable marker for a screening test that could be done earlier in pregnancy so that a high risk result could be followed up by CVS diagnostic testing (Brambati et al. 1992a;
Wald et al. 1992c; Southward 1993). In one of the clinics in this study, genetic counsellors recruited women who decided to have CVS to participate in a trial of this new test.112
111 U45W/M-C31; C31: 389-395, 468, 600-612, 756-770. 112 G6i2: 637. Chapter four: disciplining technology page 268
The laboratory that was conducting the PAPP-A trial was also participating in a pilot triple screen program, under the supervision of the doctor whose private genetic counselling clinic was included in this study.
The supervising hospital scientist (L8) of that laboratory had a long history of investigating maternal serum screening tests. For example in the early 1980s he had worked for a short time in London at the hospital where Nicholas
Wald (one of the researchers who later developed the triple screen), and learned techniques for analysing pregnancy proteins. In an interview, he spoke highly of Gedis Grudzinskas, who had ‘set the tone for our research activities here’ from the mid-1970s, when he had undergone medical training at the hospital to which L8’s laboratory was attached. Grudzinskas moved overseas to later become a professor of obstetrics and gynaecology at a major
London hospital.113 He maintained his links with Australia as well as with international actors in the prenatal diagnosis social world, such as both Wald and Cuckle, the UK developers of maternal serum screening tests, and
Brambati, an Italian expert in CVS.114
According to an Australian researcher at the time fieldwork was done for this project, further research on the triple screen was leading in two major directions. Firstly, for use in the first trimester by testing for new compounds, such as PAPP-A, and, secondly, for increased use in the second trimester to screen for ‘feto-placental well-being’ instead of only chromosomal and neural tube abnormalities (Sinosich 1995). Furthermore, the medical literature
113 Just before fieldwork for this project began, Grudzinskas was involved in a professional controversy in the UK. He won a libel action against the Mirror newspaper, after it published a report of a complaint by Grudzinskas about a female colleague of his. The newspaper reported that, far from being incompetent, she had a very high delivery rate and a very low rate of perinatal mortality. Grudzinskas, on the other hand, had the highest perinatal mortality rate at the hospital (Dyer 1990). 114 L8i1: 243-275. Chapter four: disciplining technology page 269 showed that other biochemical indicators, such as schwangerschaftsprotein 1
(SP1) and cancer antigen 125 (CA 125) (Brambati et al. 1993),were being sought to better diagnose chromosomal abnormality.
Soon after fieldwork was carried out for this project, an international group of experts recommended that maternal serum screening be routinely offered in contrast with ultrasound, which they did not recommend for routine use except in combination with serum screening (Simpson and an
International Working Group 1995). More recently, the triple screen has been identified as ‘among the most reliable diagnostic tests in clinical medicine’
(Haddow 1998).115 Another report from the US has proposed that the triple screen become ‘a benchmark’, or gold standard, for evaluating other screening tests such as ultrasound. Maternal age screening now was ‘an anachronism that should be abandoned’ (Egan et al. 2000).
4.2 Is it safe? Fetal harm
What we can do is we can put the needle into the fluid. And just a little bit of fluid is taken off. It doesn’t hurt the baby and it doesn’t actually touch the baby. It’s just in the fluid.116 (A medical geneticist in training to a 38-year-old woman and her 52-year-old male partner in the publicly funded clinic.)
An early survey of women having amniocentesis at a US centre reported that about one-third were concerned about a procedure-related miscarriage.
(Finley, Varner, Vinson, and Finley 1977: 2379). For health professionals doing genetic counselling, amniocentesis was the gold standard procedure for setting a norm for safety in governing the maternal body. This is exemplified
115 The author was one of the inventors of the triple screen and since then had been a staunch advocate and researcher of maternal serum screening. 116 U42W/M-C30/PT; C30: 68. Chapter four: disciplining technology page 270 in the quote above, and in the words of another doctor in this study who stated during genetic counselling that ‘it’s a very safe test. It’s been around for a long while.’)117 Nevertheless, they acknowledged that this ‘very safe’ test always had its dangers, as shown in the excerpt from a consent form shown at the beginning of this chapter. In this section I describe this and other technological risks and benefits to the fetus that health professionals constructed in observed genetic counselling clinics and in the medico- scientific literature.
4.2.1 Amniocentesis: A very safe diagnostic procedure
Procedure-related miscarriage
The miscarriage risk with [amniocentesis] is better [than with CVS]. It’s about one in two hundred to one in a hundred. So point five to one percent.118 (A medical geneticist in training to a 39- year-old woman and her partner in the publicly funded clinic)
Amniocentesis has been normalised as a ‘very safe’ technology for governing the fetal body. However, at the time fieldwork was done for this project, a risk discourse claimed a low rate of procedure-related miscarriage of between half and one percent of all tested pregnancies (as shown above).
In the early 1970s in the US a government-funded register was established to detect fetal harm, (Friedmann 1971). It was used to conclude in
1976 that ‘mid-trimester amniocentesis is a highly accurate and safe procedure that does not significantly increase the risk of fetal loss or injury’
(NICHD National Registry for Amniocentesis Study Group cited in Finley et al. 1977: 2377). There had been a number of other reports prior to that which had claimed amniocentesis as safe. For example, one tentatively stated that
117 U28W-C14; C14: 292. 118 U23W/M-C29/PT; C29: 206. Chapter four: disciplining technology page 271 experience with over 300 amniocenteses ‘suggests that the procedure carries minimal risks to mother and fetus’ (Nadler 1972: 17). Other early reports found no significant increase in miscarriage rate after amniocentesis compared with the rate for pregnant women generally.119 Those who reported procedure-related miscarriages described how the risk went down as the experience of the proceduralist increased.120 Other factors that affected estimates of procedure-related miscarriage included the length of time after amniocentesis that the miscarriage was counted as being attributable to the procedure.121
The higher risk estimate of one percent given in observed genetic counselling clinics appeared to be based on the first prospective randomised study that was carried out in Denmark (Tabor et al. 1986). Its estimate of about one percent122 had become widely used in genetic counselling internationally by the time this research project was undertaken
(MacLachlan 1992: 17-18). That study had resolved a controversy amongst experts since the mid-1970s, between US and Canadian claims which, on the one hand, had found no increased risk of miscarriage after amniocentesis
(NICHD National Registry for Amniocentesis Study Group 1976: 1471;
119 For example, two early studies in the US found a lower rate after amniocentesis than for the general population in the same age group (Stein, Susser, and Guterman 1973: 307). Another reported a total fetal loss rate of about 3 percent between the 14th and 18th gestational week that was similar to other centres and to surveys of women who did not have amniocentesis (Golbus et al. 1974: 902). In a later, larger study the authors continued to find similar outcomes between the two populations (Golbus et al. 1979). One highly experienced UK centre estimated a risk of 0.3 percent for miscarriage due to the procedure alone (Ferguson-Smith 1983). 120 For example, an Australian study reported total fetal loss rates of 2.8 percent for 1974- 1980, compared with 1.4 percent for 1980-1983 (Bell, Pearn, Wilson, and Ansford 1987: 13). 121 For example, one study excluded any fetal losses that occurred more than two weeks after the amniocentesis procedure (McNay and Whitfield 1984: 411). 122 Their estimated rate of fetal loss applied to the entire period of the pregnancy after the amniocentesis was done (Tabor et al. 1986: 1290). This extended period was similarly used by another major study (NICHD National Registry for Amniocentesis Study Group 1976). On the other hand, a large-scale MRC study only reported on fetal losses up to 28 weeks gestation (MRC Working Party on Amniocentesis 1978). Chapter four: disciplining technology page 272
Simpson et al. 1976: 739) and, on the other, a UK claim of about one to one and a half percent (MRC Working Party on Amniocentesis 1978: 37). The lower risk estimates given in observed genetic counselling sessions appeared to be influenced by a Canadian study, published while fieldwork was being carried out for this research project, that claimed a risk of only 0.6 percent
(Lippman, Tomkins, Shime, and Hamerton 1992). However, an Australian study published in the same year criticised the Canadian estimate and favoured the Danish study. The authors found a total miscarriage rate of 1.3 percent, with a 0.2 percent risk of miscarriage within the first two weeks after amniocentesis (Halliday et al. 1992: 889).123 Moreover, they recommended that estimates given in genetic counselling should be more fully described than was current practice. By example they provided a number of complex tables mapping a multiplicity of miscarriage rates, dependent on genetic risk, maternal age, gestational age, operator experience, and type of test (one table contained 42 different risks) (Halliday et al. 1992: 887-889).124 Activities in the clinics observed in this study did not follow these recommendations.
As for the previous section, genetic counsellors in this study tended to provide less information and in simpler language than did medically trained health professionals, and examples are shown below:
So that you need to know that there is a small risk to your unborn baby with the amniocentesis. You’re aware of that? And that’s
123 The authors claimed that their data collection methods, using a centralised state-wide system, were more rigorous and could therefore ‘provide convincing evidence for the safety of amniocentesis’ (Halliday et al. 1992). In an interview, one of the authors described as a ‘guesstimate’ the low procedure-related miscarriage risk for amniocentesis of 0.5 percent that some health professionals (particularly obstetricians) provided in genetic counselling. See the example from this study shown at the beginning of this section, which exemplifies the author’s concerns (E1i1: 332, 440, 556 ). 124 Another Australian study—in Western Australia—recommended that individual prenatal diagnostic teams provide estimates of their own miscarriage rates when doing genetic counselling (Reid, Gurrin, Dickinson, Newnham, and Phillips 1999). I observed some health professionals do this in this study. Chapter four: disciplining technology page 273
about half a percent. It’s considered to be a relatively safe procedure. (Genetic counsellor in training to 40-year-old pregnant woman in the publicly funded clinic.)125
Yes. So, if you look at it, if you make it up to fourteen and fifteen weeks and don’t have any tests then the risk that you might lose the baby somewhere around before forty week is about three quarters of a percent. Our best guess is that an additional one in three hundred women will miscarry because of the test. So it pushes you from three-quarters of a percent up to a one percent risk. So, that’s the risk of the procedure plus your background risk. For most women who do actually miscarry they were probably going to miscarry anyway. The difficulty is we don’t have a good marker for who is at risk. (Medical geneticist in training to 36-year-old woman in the mixed public/private clinic.)126
The quotes above are of interest for three other reasons. Firstly, the greater amount of information provided by the medically trained professional acknowledged greater uncertainty in the risk estimates provided. Secondly, the doctor gave risk estimates as both percentages and odds (see also the excerpt at the beginning of this sub-section). This was a genetic counselling practice I observed used by both doctors and non-medically trained genetic counsellor. It is a practice that aims to be non-directive by overcoming possible bias from individual differences in clients’ abilities to interpret mathematical data.127 Thirdly, the genetic counsellor provided an interpretation of a technological risk as ‘relatively safe.’ This practice conforms more to a guidance model of genetic counselling, in which the health professional appears to be interpreting risk in order to offer reassurance and, thus, manage the client’s emotional response.
125 U19W-G3; G3: 461. 126 U15W-C14/PT; C14: 124-128. 127 One contemporary study by a US expert concluded that, if the health professional is unsure about which form the pregnant woman prefers risks to be stated, then both forms should be provided (Kessler and Levine 1987: 369:). Harper (1988: 9) allowed for individual choice by the professional, admitting to being inconsistent himself. Chapter four: disciplining technology page 274
A long-established genetic counselling practice is based on a risk-benefit model, as shown in the following excerpt from an observed genetic counselling clinic:
At thirty-seven, it’s more or less the point at which the risk of a Down syndrome baby is about the same as the risk from a miscarriage from the safest procedure, which is the amniocentesis. (Genetic counsellor in training to 37-year-old woman in the public clinic.) 128
According to the risk-benefit model, the client is invited to examine ‘benefits’ by comparing the risk of procedure-related miscarriage after amniocentesis
(0.5 percent, or 1:200) with age-related risks for having a fetus with a chromosomal abnormality. This practice can be seen as an attempt to establish a norm for the risk of miscarriage that is acceptable for both the provider and consumer of genetic counselling. According to the chart of risks for chromosomal abnormality that was used during observed genetic counselling clinics (see Figure 5, Chapter two, sub-section 2.6), a risk of
1:200 is about equal to the risk at a maternal age of 37 years of having a live- born baby with Down syndrome.129 Other possible norms for evaluating the risk of fetal abnormality could be the (higher) risk of the fetus having Down syndrome at the time of testing (rather than at birth), or the risk of the fetus having any chromosomal abnormality (rather than only Down syndrome).
Using the latter would weaken the materialisation of a specific fetal body—one with Down syndrome—whilst the former would strengthen it.
128 U18W/M-G3; G3: 207. As shown in Figure 5 (Chapter two), the risks for having a live- born baby with a chromosomal abnormality that were given in the booklet used for genetic counselling were between about 0.6 percent at age 36 years and 1 percent at 38 years—1:179 at 35 years maternal age (0.56 percent), 1:124 at 37 years (0.81 percent) and 1:105 at 38 years (0.95 percent) (Barlow and O'Reilly 1991: 15). 129 On the other hand, in the early 1970s this risk would have been equated as closer to the risk at a maternal age of 35 years than at 40 years (see Figure 6, Chapter two, sub-section 2.6). Chapter four: disciplining technology page 275
The measured risk of a procedure-related miscarriage often decreases with the proceduralist’s experience (this is usually attributed to increasing skill). In the early days of amniocentesis, a major US clinic ‘encouraged’ genetic counselling for women aged over 35 years. However, the authors were
‘more hesitant’ about doing amniocentesis on women aged 36 to 39 years.
They justified their reluctance with an early example of a risk-benefit argument. Using the maternal age risk relationship for any chromosomal abnormality expressed in 5-year age intervals, they declared that the 36 to 39 year age bracket was a ‘grey zone,’ where the risk of a procedure-related miscarriage (estimated to be about 3 percent) appeared to be greater than the risk of any chromosomal abnormality in the fetus (Golbus et al. 1974).
When amniocentesis was first introduced, its use in the second trimester was described as being done ‘early’ in pregnancy,130 compared to previous practices in the third trimester. At the time that fieldwork was done for this project, the recommended gestational time for doing amniocentesis was 14 to 16 weeks.131 However, others had begun to advocate ‘early’ amniocentesis at between 10 to 14 weeks gestation. They claimed that technological progress (such as new ultrasound technologies) and increased expertise could avoid any increase in procedure-related miscarriage. Some were investigating new techniques for obtaining and culturing cell samples, such as recycling the smaller volume of amniotic fluid back into the womb while filtering out the smaller number of cells for tissue culture and analysis,
130 For early examples, see Stein et al (Harris 1971; 1973: 307). 131 In observed genetic counselling clinics, there was some local interpretive flexibility with recommended gestational times for amniocentesis. Sixteen weeks was the usual practice in the two publicly funded genetics clinics in this study (15 weeks was considered acceptable, although unusual). In the private clinic, amniocentesis was done from as early as fourteen weeks (U23W/M-C29/PT: 202; U36W-C5/PT; C5: 170). Chapter four: disciplining technology page 276
(Charrow, Nadler, and Evans 1990: 1971; Ferguson-Smith 1991: 490; Hackett et al. 1991). On the other hand, others were more cautious, wanting to wait for results from controlled studies (MacLachlan 1992). Consensus favoured the cautious approach, also adopted by health professionals in this study.132
Since then, large-scale studies have found an increased risk of talipes equinovarus (a deformity of the foot) in the fetus (Sundberg et al. 1997) and of procedure-related miscarriage (Alfirevic 2000a). The former study still advocated early amniocentesis, but from a minimum of 86 days’ gestation
(Sundberg et al. 1997: 703).
Reasons given to support early amniocentesis were in terms of the multiple components of a changing prenatal diagnosis package. Advantages included the long accepted ‘diagnostic precision’ from amniotic fluid samples compared with those from CVS. However, CVS was used as a standard for procedure-related risk of miscarriage. In contrast to the later study above, these researchers found a risk of miscarriage that was equivalent to that of
CVS. As well, the authors expressed confidence in new uses of ultrasound and maternal serum screening in the first trimester, the new method of filtering amniotic fluid, and new molecular cytogenetic methods of karyotype analysis in the laboratory (Sundberg et al. 1997: 703). This confidence in first trimester amniocentesis articulated changes in medico-scientific claims about the technologies, and in the technologies themselves, over a relatively short time of about five years. At the time that fieldwork was done for this project, nuchal translucency was becoming accepted (see Section 4.1.2
132 For example, a medical geneticist in training described ‘debate’ about early amniocentesis at an overseas conference of fetal specialists that she had recently attended, where a majority of participants concluded that ‘the data wasn’t particularly good’ (C30i1: 549). Chapter four: disciplining technology page 277
Ultrasound), while maternal serum screening in both the second and first trimesters were both controversial (see Section 4.1.2 Maternal Serum
Screening), expert medical geneticists had recommended that the FISH technique was not a ‘standard laboratory technique’ but merely
‘investigational’ (ACMG 1993: 527), and studies using the filtration technique had not yet been reported (Sundberg et al. 1995).
4.2.2 CVS: A very low risk diagnostic procedure at a vulnerable time in pregnancy
Procedure-related miscarriage
Doctor: The procedure involves a risk to the unborn baby. The risk is of miscarriage. Client: Is it still one in four? Doctor: The chance of miscarriage from CVS? No, no. The chance of miscarriage with this test itself is about one in fifty. Right? So it’s very, very low. Very low risk compared to what it used to be. (A medical geneticist and a 44-year old woman in the publicly funded clinic).133
There is a risk of miscarriage with this test. And that’s about one or two percent. So, one in fifty to one in a hundred times a lady will have a miscarriage because of this testing procedure. ... It seems to be a very vulnerable time of the pregnancy, if you like, a time when pregnancies seem to miscarry naturally. That’s why it’s one or two percent. They can’t get an exact figure because they don’t know which pregnancies are going to miscarry anyway, whether they have a test or not. But it is a real risk. I mean, it’s one or two percent, two percent at the worst. (A genetic counsellor to a 41-year old woman in the publicly funded clinic.)134
The first reports of the new CVS procedure that stimulated widespread interest in the West were in 1982 by teams working in Russia and the UK
(Gosden, Mitchell, Gosden, Rodeck, and Morsman 1982; Kazy et al. 1982;
Old et al. 1982). The first report of its success specifically in detecting Down syndrome came the next year from an Italian team (Brambati and Simoni
133 U49W-C10: 484-492. 134 U40W/M-G6/PT; G6: 342-350. Chapter four: disciplining technology page 278
1983). All reports had been published only about ten years before data collection was done for this project. They used new real time ultrasound technologies to guide the proceduralist and were small-scale studies that found no procedure-related complications. Centres of expertise and an international voluntary effort to monitor safety and efficacy were quickly established the year after. An international conference of experts was organised, a WHO working group formed to investigate safety,135 an international register established and a newsletter produced to monitor and report on international activity.136 Thus CVS was a relatively new technology that had quickly become integrated into the prenatal diagnosis package.
Amniocentesis has been the gold standard for assessing CVS and for constructing CVS as being (slightly) more dangerous to the fetus but less harmful to the woman emotionally because of the earlier time and different methods of abortion. The large-scale comparative studies in Canada and
Denmark mentioned above with respect to amniocentesis constructed CVS as having a slightly higher risk of procedure-related miscarriage (Canadian
Collaborative CVS-Amniocentesis Clinical Trial Group 1989; Lippman et al.
1992; Smidt-Jensen et al. 1992). The booklet that was used in the genetic counselling clinics estimated a procedure-related miscarriage rate of 2 percent for CVS, although it is unclear if this rate was for all miscarriages after CVS or just those due to the procedure, nor did it specify the length of
135 The WHO and a Saudi Arabian sultan sponsored research by Old et al (1982: 1416), which aimed to develop a rapid and simple test for thalassemia ‘prevention’ programs. 136 Both the WHO and the March of Dimes Birth Defects Foundation funded the international register (Jackson 1987): 175-176. In September 1986, there were 96 centres providing data on CVS activities in an international collaborative effort: 42 in Europe, 20 in the US, 13 in the UK, 5 in Australia, 3 in Canada, 3 in mainland China, and 1 in Japan. By 1987, about 500 copies of a newsletter established in the US were being distributed annually around the world (Kuliev et al. 1993: 197). By May 1992, it was estimated that a total of over 150,000 CVS procedures had been done world-wide, and about half of these had been notified to the Registry (Kuliev et al. 1993: 197). Chapter four: disciplining technology page 279 time after CVS. For amniocentesis, it estimated a 1 percent total miscarriage rate and about 0.5 percent due to the procedure itself (Barlow and O'Reilly
1991: 6 & 11). The health professionals observed in genetic counselling clinics quoted these figures to their clients, although they often were careful to discuss the uncertainty of estimating procedure-related risks of miscarriage
(see the example at the beginning this section). 137 Often they were careful to distinguish between the two, as shown in the following examples:
The pros and cons for these sorts of things that people consider is—the CVS, [indicates drawing in booklet] this is the CVS test, that’s an earlier test and therefore if there is an abnormality it’s likely that you could have an earlier termination. However, there’s the higher miscarriage rate that’s associated with this test. As opposed to the amniocentesis, a later test, so therefore if you need to have a termination it’s a later termination. But, again, a lower miscarriage risk associated with that test. (Medical geneticist in training to 39-year old woman in the public clinic.)138
Genetic counsellor: Did you want me to talk to you about the one that’s done earlier? Are you interested at all Client: Isn’t there more risk? Genetic counsellor: There is a slightly higher risk, yes. Client: I remember now, that’s the reason I went for the amnio. (Genetic counsellor with 40-year old woman in the public clinic.)139
In the latter example above, the client remembered clearly from previous genetic counselling how a difference in risk of procedure-related miscarriage had been given, and that this had influenced her decision to have an amniocentesis during her previous pregnancy. Amongst themselves, however, the health professionals ofter spoke of the miscarriage rates for
137 Again, doctors were more likely to provide this information, and in more detail, than genetic counsellors. 138 U14W-C29; C29: 800-816. 139 U19W-G3: 306 – 332. Chapter four: disciplining technology page 280
CVS and amniocentesis as being about equivalent,140 although their language did signal some sense of difference. For example, see the quotes above describing amniocentesis as ‘very safe’ (see beginning of Section 4.2) in contrast to CVS as ‘very low risk’ (see text at beginning of this sub-section).
The causes of miscarriage after CVS have been attributed to both the maternal body (mainly as a ‘background risk’ at a particular gestational age—see Chapter two) and the procedure (the professional skill of the proceduralist, based on the number of times an individual had performed the procedure, and the type of method).141 CVS researchers have had great difficulty in measuring deviation from a ‘background risk’—a naturalised norm for miscarriage—after CVS. They also have had to negotiate which miscarriages to count (eg, those which occur for a limited time after the procedure, or for the remainder of the pregnancy). Estimates have been confounded by factors such as the variety of techniques (eg, transcervical and transabdominal) and technologies (eg, different types of needles, rigid or flexible tubes of variable diameter and materials), the number of attempts made to get a sample during a procedure, the changing miscarriage rates at different gestational times and maternal ages, the health of the woman having the procedure (eg, herpes infection, uterine fibroids), and the
140 According to a proceduralist in this study ‘procedurally related miscarriage is not much different between both procedures [amniocentesis and CVS] in experienced hands’ (C6i1: 534). A genetic counsellor confirmed this consensus in an interview, when she said ‘I think that most people feel, in expert hands, that the risk of miscarriage from the procedure is not all that different between CVS and amniocentesis’ (G3i4: 102). 141 In an interview, other causes mentioned in the maternal body included bleeding or an active herpes infection during pregnancy (C6i1: 406). In an observed genetic counselling clinic, a doctor said: As women get older, sometimes their uteruses are a bit more irritable early. Sometimes people have more spotting and bleeding and that might make them a bit anxious and feel like they’d like a different test (A medical geneticist in training to a 40-year old woman in the publicly funded clinic) (U51W/M-C33; C33: 13). Chapter four: disciplining technology page 281 intentional abortion of a fetus after a positive diagnosis.142 In the early development stage of CVS, experiments first conducted on women before they were due to have an abortion made it difficult to measure procedurally related miscarriage in the long-term at all.
By mid-1992, after about ten years of increasing CVS practice, evidence was drawn from data accumulating at the US-based CVS register from twenty-five centres that had performed a high number of prenatal diagnosis procedures world-wide. This data and other studies exemplified difficulties in negotiating standards that were considered scientifically valid in terms of methodology and ethics. For the CVS register, the reported total miscarriage rates following CVS (up to 28 weeks in chromosomally normal pregnancies) was from 1.2 to 8.4 percent, with the higher rates reported mainly for those with lesser experience in performing the procedure.143 Nevertheless, a norm of about three to four percent was chosen, using data from large-scale
Canadian, European and US trials (Canadian Collaborative CVS-
Amniocentesis Clinical Trial Group 1989; Jackson et al. 1992; Lippman et al.
1992; MRC Working Party 1991). These studies reported uncertainties could be due at least in part to regional differences in the method for determining gestational age for doing the CVS (Lippman et al. 1992: 404).144 The norms derived empirically were comparable to rates reported by an Australian clinic of 8 percent after their first hundred procedures, reducing to 2.4 percent (to
142 For example see Halliday et al (1992) and Wass et al (1991). 143 This data was used by a WHO group of experts who met at Milan in 1992 to make the conservative recommendation that expertise in the CVS procedure be assigned to those with a miscarriage rate of below 6 percent. (Kuliev et al. 1993: 198). One of the early pioneers in CVS recommended a minimum of ten CVS procedures should be done per month to gain the required expertise (Brambati, Oldrini, Ferrazzi, and Lanzani 1987). An Australian expert stated that several hundred transcervical procedures were required to establish expertise (Wass et al. 1991: 244). 144 There also were differences in perceptions about the ethical necessity of allowing women access to both CVS and amniocentesis in order to do a comparative study. Chapter four: disciplining technology page 282
20 weeks’ gestation) for the following 1,400 procedures.145 They used a published background miscarriage rate of 2.1 percent to conclude that about 1 percent of miscarriages after CVS were caused by the procedure (Anderson et al. 1991: 658). Another Australian clinic in that year reported an overall total miscarriage rate after transcervical CVS of 3.5 percent (to 20 weeks’ gestation), reducing to 2.1 percent after expertise had been developed (Wass et al. 1991: 240). A third Australian report the next year estimated a total miscarriage rate of 1.2 (for miscarriages measured up to three weeks after the procedure) and a total miscarriage rate of 2.9 percent over the rest of the pregnancy (Halliday et al. 1992: 889).146 Neither of the last two studies attempted to estimate a risk of miscarriage due to the CVS procedure alone, presumably because of the uncertainties.
Transabdominal vs. transcervical method
Now, the thing that’s different between what happens here and what happens at [name of another hospital] is that [name of a proceduralist at the other hospital] prefers to do all her CVS tests through the vagina. However, here they take a look at the placenta, with the ultrasound, look at the position, and decide at the time whether they’re actually going to do it through the vagina, like you had last time [at the other hospital], or whether they’re going to put a needle through your tummy. (Medical geneticist in training to a 40-year old woman in the public clinic.)147
Two different CVS methods of genetic prenatal diagnosis have been developed: transcervical (the sample is taken through the vagina and cervix) and transabdominal (the sample is taken by needle puncture through the
145 The proceduralists used the transcervical CVS preferentially. However, an abdominal method was used if they failed to get a sample or an IUD was present (Anderson et al. 1991: 657). 146 The authors claimed a better data collection method than many other studies, with one hundred percent inclusion of all women who had undergone a procedure (Halliday et al. 1992: 886). 147 U51W/M-C33; C33: 125. Chapter four: disciplining technology page 283 abdomen, as for amniocentesis). The transcervical method was the first to be established, but the transabdominal was becoming more popular at the time that I did fieldwork for this project.
Both transcervical (Acosta-Sison 1958) and transabdominal (Alvarez
1966) methods were used in early reports in the mid-twentieth century of
CVS procedures that were used to diagnose hydatidiform mole (a cystic degeneration of chorionic villus, leading to rapid growth of the uterus with hemorrhage). Alvarez, a doctor in Uruguay, used transabdominal CVS to conclude that CVS was a ‘simple and harmless’ procedure (Alvarez 1966:
541). The first report of CVS for genetic diagnosis was not made until the end of the 1960s, with a Danish study that used a transabdominal CVS method
(Mohr 1968). Mohr developed the technique to improve on amniocentesis because it could be done earlier in pregnancy. He rejected a transcervical approach because of uncertainties about the risk of miscarriage (he appeared not to be familiar with Alvarez’ work, as it was not referenced).148 Instead, he used the abdominal approach, recently used by Fuchs and Riis (1956), who also worked in Denmark within the newly forming genetic prenatal diagnosis social world. Shortly afterwards, however, the same author ventured into using a transcervical method (Hahnemann and Mohr 1968 and 1969 cited in
Kullander and Sandahl 1973). A Scandinavian centre of activity developed further with the research by Kullander and Sandahl (1973) who tried to improve the transcervical method. However, they discontinued their research because of they perceived the amniocentesis procedure to have
‘greater ease and safety’ (Modell 1986: 8), as for the culturing of amniotic cell
148 According to Mohr, the transabdominal approach was already ‘known to be compatible with a further normal development of the foetus’ (Mohr 1968: 76). Chapter four: disciplining technology page 284 samples afterwards (Pergament and Fine 1993: 145).149 Transcervical CVS was reported in China in 1970 as a tool in an intensive population control program, for fetal sex determination for ‘women who desire family planning’
(Tietung Hospital 1975) (see Chapter 2, Section 2.4.2).150 This was the first published study that examined continuing pregnancies, and reported a relatively low miscarriage rate after the procedure of 6 percent with a relatively high accuracy of 90 percent (Modell 1986: 10). However, the controversial finding of large-scale abortion of female fetuses stopped further reports.
Twenty years later, some of the Danish researchers rejected the transcervical method because of danger to the fetus (despite it possibly being less painful to the woman). According to them, a needle puncture through the woman’s abdomen provided a ‘sterile field similar to amniocentesis,’ in comparison with the internal space of the vagina that appeared harder to control for infection (Smidt-Jensen and Hahnemann (1988) cited in
Pergament and Fine 1993: 147). According to Liu (1987: 228), fear of infection was the main reason for the popularity of the transabdominal method. However, a later review stated that the fear of infection from the transcervical method had not been borne out by research, where
‘surprisingly’ there was no difference in infection rate between transabdominal and transcervical methods (Pergament and Fine 1993: 149).
The Danish centre later reported that a randomised study at a number of
149 They used direct vision rather than ultrasound to guide the procedure, and a biopsy was done using a knife inserted through a rigid metal tube (a hysteroscope). Occasionally they accidentally cut out part of the amniotic membrane, which could have caused miscarriage. Initial problems culturing the cell samples were later solved, although some mosaic cells caused problems in diagnosis (Modell 1986: 8). 150 The Chinese researchers used a simple and cheap ‘blind’ approach without ultrasound (Tietung Hospital 1975: 117-118). Chapter four: disciplining technology page 285 clinics caused them to cease doing the transcervical method because of unacceptably high procedure-related miscarriages compared with the transabdominal method (Smidt-Jensen et al. 1992: 1237). For this continuing problem, other claims about the maternal body and operator skill become relevant.
In the observed genetic counselling clinics, although some women expressed a preference for one or the other route, the choice of which CVS method to use was made by the proceduralist. It was not a choice given to clients in observed genetic counselling clinics (‘that’s a decision I make for you on the day of the test’).151 The health professional was required to describe both methods to the client (‘we need to tell you there’s two ways. It could go either way’).152 In the city where I did the fieldwork for this study, most proceduralists preferred to perform the CVS procedure transabdominally.153 At the public clinic this was the case for all the proceduralists, and some women were directly advised of this.154 A proceduralist at the mixed public/private clinic stated that the transabdominal method had become more widely used because it was already practised for amniocentesis, and the transcervical method ‘takes longer to learn’ and required ‘a greater degree of skill.’155 Her first preference, however, was the transcervical method.156 The reasons she gave for this were that she had been originally trained in it, she believed her safety
151 U43W/M-C5/PT; C5: 201. 152 U7W-G6C10; G6: 480. 506-507. 153 C30: 272; U38W-C33/PT; C33: 190; U39W/M-C33; C33: 447. 154 U18W/M-G3; G3: 280; U22W/M-G3; G3: 325; U34W-C30; C30: 382. 155 C6i1: 416-424. 156 The proceduralist would do a transabdominal CVS later in pregnancy, instead of an amniocentesis if the placenta was accessible. The advantage was that the cells obtained could be cultured more quickly in two, instead of three, weeks (G4i3: 136). Chapter four: disciplining technology page 286 record was comparable to others who used the transabdominal method, and
‘if you’ve got something that works, stick with it.’157
She further justified the transcervical method in terms of the preferences of the women who had prenatal diagnosis. ‘The aesthetics’ of a transabdominal method were problematic for many women, in terms of their fear of pain caused by a needle compared with their familiarity with the vaginal approach used by techniques such as the Pap smear.158 Most health professionals providing genetic counselling had not experienced a prenatal diagnosis procedure themselves, and occasionally they mentioned this.159
They therefore referred to other women’s reported experiences with the test.
They also drew similarities with other more commonly experienced procedures. The transcervical method of CVS was commonly compared with a Pap smear, and the transabdominal method with a blood test.160 Women reported different experiences of a Pap smear. Some were favourable, and some were not. For example, one woman told of having to a Pap smear test done at two weeks’ gestation to investigate a vaginal infection, and reported her GP’s comment that she had a ‘difficult vagina.’ During genetic counselling she decided to have an amniocentesis, as for her previous pregnancy.161 Another woman chose to have an amniocentesis because her uterus was positioned ‘backward’ and this made it ‘difficult to even get a speculum in.’162 I observed another client decide to have a CVS procedure, saying she wanted it to be done using a transcervical approach because ‘I’m
157 C6i1: 435, 469. 158 C6i1:428-430. 159 For example, the genetic counsellor in training said this to a 42-year old woman in genetic counselling (U37W-G6/PT; G6: 146). 160 U14W-C29: 599-603; U18W/M-G3: 410; U23W/M-C29/PT; C29: 195; U26W-C29: 227; U36W-C5/PT: 177; U37W-G6/PT: 146; U43W/M-C5/PT; C5: 192-193; U47W-C10: 291. 161 U14W-C29; U14W: 973. 162 U46W-C31/PT; U46W: 289, 293. Chapter four: disciplining technology page 287 used to being examined that way.’163 Sometimes the health professional and the client negotiated the meaning of any pain associated with a procedure:
Doctor: [Amniocentesis] usually is like a blood test. What was it like for you? Was it painful? Client: Sort of, just, ah, sort of, yeah ... uncomfortable. Doctor: OK. Most women actually describe it as pressure when I Client: It was a bit like a, it felt like a, sort of, blunt needle effect. I suppose it depends on what your pain threshold’s like. (Medical geneticist and 39-year old woman in private clinic.)164
In some observed genetic counselling sessions, the health professional advised of choice between the two possible methods solely in terms of technical decisions on safety and efficacy.165 The following example is for a session in which the genetic counsellor knew that the proceduralists preferred the transabdominal method:
Genetic counsellor: So they use an ultrasound to guide them, to let them know where the baby is and where the placenta is. And they need to discover which is the easiest way to get a sample of the placenta. And which is the safest way. OK? Client: Right. Genetic counsellor: And it can either be done through the cervix or through the abdomen. [Laughs] Client: I don’t like the look of that [the transabdominal method]. [Laughs] Genetic counsellor: Yeah. So there’s two ways of doing it and it all depends on which way the baby’s lying on the day and which way the placenta’s lying. (Genetic counsellor in training with 37-year old woman in the public clinic.)166
Fetal limb abnormalities
Up until the beginning of this year we were offering [CVS] to [women] between nine and eleven weeks [gestation] but now, of course, it’s been shown that under ten weeks there’s a chance of having children born with limb abnormalities so now we all say from ten to twelve weeks. (Interview with genetic counsellor.)167
163 U10W-G6/PT; U10W: 136. 164 U43W/M-C5/PT; C5: 297, 300-304. 165 U27W-C14/PT: 139-143, 147, 187; U30W-C10/PT; C10: 198; U40W/M-G6/PT; G6: 334-335; U51W/M-C33; C33: 125. 166 U29W-G6: 686 –703. 167 G3i1: 661. Chapter four: disciplining technology page 288
Limb reduction defects are a theoretical possibility, not yet proven. (Medical geneticist to 35-year old woman in the public clinic.)168
At the time that fieldwork was done for this project, there was a controversy about CVS and fetal safety. Concerns were raised about whether CVS caused fetal limb abnormalities if it was done very early in pregnancy, possibly due to interfering with fetal development. In 1991 Brambati and other Italian colleagues were doing CVS as early as 6 to 7 weeks’ gestation. According to them CVS ‘has become a widely accepted alternative to second-trimester procedures and has been proved as safe as amniocentesis’ (Brambati, Tului,
Simoni, and Travi 1991: 318). Early CVS had already brought with it controversy over the possibility of adding new abortion technologies, such as
RU486, to the prenatal diagnosis package.169 Fetal limb abnormalities brought a different debate, this time focussed on preventing the procedure causing abnormalities in the fetus rather than on preventing the further development of a fetus that already had abnormalities.
Just before fieldwork began for this study, concerns had been raised by reports in the literature of fetal limb abnormalities possibly being caused by
CVS (Brambati et al. 1992b; Burton, Schulz, and Burd 1992; Firth et al.
168 U30W-C10/PT; C10: 371. 169 The rationale for lowering the minimum gestational age was that a non-surgical abortion could be done (using the controversial combination of RU486 (mifepristone) and a prostaglandin that could be used only up to 7 weeks’ gestation). The rapid acceptance in France and then elsewhere in Europe of this form of abortion was claimed to be easier for the health professional (it ‘can be easily performed as an outpatient procedure’) and to minimise emotional harm to the pregnant woman (‘her visualization of an indistinguishable fetal pole by ultrasound probably does not enhance bonding between the mother and the embryo’) (Brambati et al. 1991: 320). However, religious groups have resisted RU486 precisely because of the greatly enhanced ease of access to abortion, and their resistance has impeded the availability of RU486. It was only approved by the FDA for sale in the US in October 2000 (Gottlieb 2000), and is unlikely to be approved in Australia under present political conditions (Weisberg 2001). Chapter four: disciplining technology page 289
1991).170 As a result, a WHO meeting was held at an international conference in May 1992 to review data on the safety of CVS. The experts concluded that
‘CVS should be performed at nine to twelve weeks from the LMP (last menstrual period)’ (Kuliev et al. 1993: 206). However, a genetic counsellor working in the public clinic advised me that earlier in 1992 the proceduralists in that clinic had raised the minimum gestational age for CVS from 9 to 10 weeks. Knowledge claims about the safety of CVS for the fetus were clearly being renegotiated. Uncertainties were not as evident in observed genetic counselling clinics as they were in interviews with, and observed discussions amongst, the health professionals in this study.
At the end of 1993, the risk of CVS related fetal limb abnormalities was still described as an ‘unresolved issue’ by a proceduralist (C6) in this study.171
It continued to be unresolved well beyond the time of fieldwork for this study
(Firth 1997). At a meeting of international experts that a medical geneticist in training (C30) in this study had attended during that year, a session had been organised to discuss the issue with the aim of publishing a contribution to the debate. They wanted to define the different types of abnormalities, in order to identify whether or not CVS was the cause for an increase in a particular type over the ‘normal’ incidence. The meeting agreed to maintain the minimum gestational age limit of 10 weeks but debate was not resolved on claims that there was ‘really a true increase’ and, if so, on what ‘the mechanism’ might be.172 Members of this expert group were leaders in
170 Firth (Firth 1997: 1313) described how she and her colleagues had accepted occasional ‘anecdotal’ reports of ‘single cases’ (including one in their own unit) but became concerned after encountering over a short time in their unit three women carrying a fetus with limb abnormalities. 171 C6i1: 660. 172 C30i1: 522, 531, 539-547, 640-641. Chapter four: disciplining technology page 290 recommended standard practices.173 It was a long-standing and select group that had met for about fifteen years and attendance was limited to invitation only. It appeared to be an informal arena for negotiating knowledge claims about prenatal diagnosis. According to a medical geneticist in training who had attended a meeting:
I don’t think the scientific content was particularly great. ... They’re old mates and they, sort of, were social as much as anything. And there wasn’t anything particularly new that was presented in terms of what they were talking about.174
The proceduralist who had attended that international meeting also referred to the controversy at two different pre-clinical meetings observed in this study. She noted the conflict in the literature,175 and that the controversy had caused some to stop doing CVS altogether, although consensus had not been achieved that CVS was the cause. The lack of consensus was due to a lack of agreement over measuring the background incidence (estimates ranged from about one to six per ten thousand) (NICHHD 1993).176 This, in turn, was made more difficult because of problems in defining a particular fetal abnormality, such as by its location in the fetal body (eg, upper and
173 C6i1: 664. The two doctors (C6 and C30) whom I interviewed and who had both had attended the international group’s meeting) identified the group variously as the ‘Fetoscopy Working Group’ and the ‘Fetoscopy Group.’ Members of the group worked in a broad range of countries besides the UK, US, Canada, Australia and other industrialised Western nations, such as India, and Turkey and other Mediterranean countries (C30i1: 504; C6i1: 647-655, 668-676). Although I was unable to confirm it at the time, it is highly likely that the group is the same as the International Cooperative Research Group on Prenatal Diagnosis and Fetal Therapy (formerly known as the Fetoscopy Club) (Jackson 1987: 176). 174 C30i1: 479. 175 At one meeting in August 1993, C6 noted an article that recommended CVS should not be done until 12 weeks gestation, in order to avoid the risk of fetal limb abnormalities. One month later she presented a review of this controversy noting the 1992 WHO Report (Kuliev et al. 1993) that recommended CVS was safe from 9 weeks’ gestation. She also referred to the three earlier major published trials (Canadian Collaborative CVS-Amniocentesis Clinical Trial Group 1989; Lippman et al. 1992; MRC Working Party on the Evaluation of Chorionic Villus Sampling 1991; Rhoads et al. 1989), which had found no increase in fetal abnormalities when CVS had been done at more than 66 days gestation. 176 C6i3: 193. Chapter four: disciplining technology page 291 lower limbs) and by its association with other abnormalities (some of which were thought to be of genetic, rather than ‘environmental’ origin). There were also methodological problems in ensuring that all cases of fetal abnormalities were counted. She portrayed fetal limb abnormalities as not being a serious problem in Australia, where only a small number of fetal limb abnormalities had been reported compared with a much larger number of
CVS procedures that had been done. Furthermore, no litigation was under way in Australia, compared with about six lawsuits having been initiated overseas. For genetic counselling purposes, she appeared to have possible future litigation in mind when she recommended that those doing genetic counselling state that ‘there is evidence of no significant increase of limb reduction defect’ and to write in the records ‘limb reduction defect discussed.’ She also advised that evidence in the literature should only to be discussed ‘if the patient brings it up.’177
In the observed genetic counselling clinics, there was inconsistency in providing information on the risk of fetal limb abnormalities with CVS. For genetic counselling sessions in which women were eligible for CVS (because they were in the early stages of pregnancy) and had not indicated a preference for amniocentesis, the genetic counsellors resisted providing the information. The genetic counsellor in training mentioned it in only one out of two possible genetic counselling sessions, and then only because the woman herself asked a question about it.178 The other genetic counsellor omitted to mention it to any of the seven clients with whom she discussed
177 GC2/3Diary14/9/93: 4-78. 178 U18W/M-G3; G3: 280. Chapter four: disciplining technology page 292 the option of CVS.179 On the other hand, the medically trained professionals in all three clinics varied in their approach. In the public clinic, the geneticist in charge provided information to four out of five eligible women180 and a medical geneticist in training C29 informed two out of three eligible women.181 At the mixed private/public clinic the medical geneticist in charge provided information to the only eligible woman she counselled,182 one medical geneticist in training informed only one of two eligible women she counselled,183 and the other informed none of the three women eligible for
CVS.184 In the private clinic, the medical geneticist informed both of the women eligible for CVS.185 One woman was observed to initiate a question about the risk of fetal limb abnormalities with CVS.186 In all other cases observed, the health professional raised the issue first.
One reason for omitting to provide information is the amount of time taken to explain the complexities of the controversy, as shown in the following example:
Some studies out of the UK and of Italy suggested that there might be increased risk of limb reduction defects associated with chorion villus sampling. We used to think that there were no risks associated with this that we knew of, apart from the risk of miscarriage. But there have been some centres that have suggested a risk of limb reduction defects, either small terminal transverse defects or bigger defects. And there was some clustering of cases reported in Italy and the UK—each brought this up a few years ago. Now, there’s two things about that. One, everybody who was doing chorion villus sampling started looking at their data. ... And some big multi-centre trials, or reviews in the UK and Canada have come out saying “No, we don’t think there is really. And if there is, you know, it’s in the level of, you know, one
179 U7W, U8W, U10W, U29W, U37W, U40W/M, U48W/M, U50W. 180 C10 informed U9, U30, U47 & U49 but not to U13. 181 C29 informed U23 & U26 but not U14. 182 C14 informed U27. 183 C31 informed U46 but not U45. 184 C33 informed U38, U39 and U51. 185 C5 informed both U36W and U43W. 186 U18W/M-G3: 292. Chapter four: disciplining technology page 293
in five thousand more than there would be without this test.” So it starts becoming difficult to see whether it’s statistically significant. The other thing was that it appeared that problems like that, if they were associated with this procedure, seemed to be associated with an early test. ... Early chorion villus sampling may have a very small increased risk of causing these defects. And for that reason we never did do early chorionic villus sampling here. And that’s the reason why we, sort of, don’t need to do it. But there is a small risk. It’s not a quantifiable risk in the sense that it doesn’t reach the level of half a percent, or one in a hundred by a percent. But it’s a possibility that, I cannot exclude the possibility that this procedure in itself may disrupt blood flow to the baby. ... So it does seem a possible association. If it does occur it doesn’t occur very often. Certainly in the hands of the people here, they haven’t seen this as a complication. But, then, they haven’t looked at ten thousand. They’ve looked at three thousand, but they haven’t looked at ten thousand. (Medical geneticist to 35-year old woman in the public clinic).187
The prenatal diagnosis booklet used in genetic counselling stated that
CVS could be done from the 9th to 12th weeks of gestation. However, this knowledge claim was amended during genetic counselling to the 10th to 12 weeks.188 Sometimes, a detailed explanation for this amended knowledge claim was given, referring to international studies that had found “a very clear reduction in risk” of fetal limb abnormalities when the CVS was done from week ten. This was explained in terms of the fetal body, in that “the development process stops at around week nine” and:
if you do a test on the placenta you could interfere with the blood supply to the baby—because, remember, all of the baby’s nutrition comes from the placenta—so sampling the placenta could interfere with that. So that could affect the development process.” (Medical geneticist to 37-year old woman in the private clinic.)189
Occasionally the health professional advised that CVS could be done from nine weeks. However, because of concerns in the literature about the
187 U30W-C10/PT; C10: 219-227. 188 For example, in U36W-C5/PT; C5: 167-169. 189 U36W-C5/PT; C5; 242, 247-250. Chapter four: disciplining technology page 294 possibility of fetal damage at early gestational ages, ‘usually we do it after about ten weeks of the pregnancy.’190
The proceduralist in this study who preferred the transcervical method of CVS stated that the type of CVS method influenced the risk of fetal limb abnormalities. Referring to statistical and other difficulties in finding ‘a scientific reason why one procedure may be more risky than another,’ she instead argued during an interview ‘on the grounds of my logic.’ Drawing a diagram, she described how the transcervical method was safer theoretically because it sampled from the edge of the placenta. In contrast, the transabdominal method would be more likely to sample from the central area where the cord was located. Because ‘it is thought that transverse limb defects is related to vascular disturbance,’ she argued that fetal limb abnormalities would be therefore more likely with the transabdominal method.191
4.2.3 Ultrasound: A non-invasive test
If you chose to have prenatal diagnosis, you’d definitely have your dating before we did any testing. To make sure that we did it at the right time. (Genetic counsellor to 33-year old woman in public clinic)192
So they use an ultrasound to guide them, to let them know where the baby is and where the placenta is. And they need to discover which is the easiest way to get a sample of the placenta. And which is the safest way. (Genetic counsellor to 37-year old woman in the public clinic.)193
The advantage of just doing an ultrasound at week eighteen is that it would not involve a risk to the baby. (Medical geneticist to 37- year old woman in the private clinic.)194
190 U23W/M-C29/PT; C29: 195. 191 C6i1: 631-632. 192 U7W-G6C10; G6: 475. 193 U29W-G6; G6: 686, 690. 194 U31W-C5/PT; C5: 344. Chapter four: disciplining technology page 295
The examples above, taken from observed genetic counselling clinics, illustrate the ways in which ultrasound was constructed as relatively safe for the fetus. When used as a dating scan and as an aid to a later diagnostic test, ultrasound actually reduced the potential for fetal harm. As a screening tool for fetal abnormality offered in genetic counselling, it ‘would not involve a risk to the baby.’195
Nevertheless, ultrasound has been the subject of controversy over possible harmful effect to the fetus. The large-scale RADIUS study in the US concluded in the early 1990s that routine screening ultrasound of ‘low risk’ pregnant women did not improve health of the baby after birth and was not worth the costs involved (Ewigman et al. 1993: 826). The medico-scientific community at the time that fieldwork was done for this project were concerned about two dangers posed by ultrasound on the human body: excessively raised temperature, and the formation of bubbles which could disrupt cell reproduction, function and structure and, hence, harm fetal development. In particular, an international group examining ultrasound safety noted that greater diagnostic sensitivity in new ultrasound technologies came with increased risks of harm to the fetus because of greater levels of sonar radiation (Barnett et al. 1994: 205). On the other hand, experts in obstetric ultrasound at that time provided an exhaustive review of a wide range of studies to conclude that ultrasound ‘as it has been performed in the past, presents nonmeasurable risks to the developing embryo.’ Nevertheless, they acknowledged that some studies showed it ‘had the potential for damaging the embryo and fetus’ (Brent, Jensh, and
195 U31W-C5/PT; C5: 344. Chapter four: disciplining technology page 296
Beckman 1991: 127). Strategies they suggested for managing the risks included modifying equipment design so as to monitor and control the temperature at the site of the scan and (as had already been done for exposure to radioactive radiation with X-ray technologies) guidelines on exposure levels and times. Another strategy was to avoid using the term
‘ultrasonic radiation,’ instead using alternatives such as ‘sonography’ and
‘sonogram’ as the most appropriate and least anxiety-provoking terms’
(Brent et al. 1991: 128).
As described earlier (see Section 4.1.2), ultrasound was a standard practice in obstetrics for calculating gestational age. As shown in the above text, in observed genetic counselling clinics women were strongly recommended to have a dating ultrasound before a procedure in order to maximise the safety of the procedure. However, clinics avoided ultrasound scans before seven weeks’ gestation, in order to avoid contributing to maternal anxiety during a pregnancy’s most vulnerable time: ‘it makes it even more tense if you keep coming for scans and things and nobody’s sure.’196
In the 1970s in the early days of amniocentesis when concurrent ultrasound was not used, needle puncture of the fetus occasionally happened
(Brambati 1993: 1989). However, by the early 1990s health professionals were highly certain of ultrasound’s benefits as a tool to reduce, rather than increase, fetal harm during a procedure. In observed genetic counselling clinics, both professional and client found reassurance in ultrasound’s role during an invasive procedure. Real time ultrasound enabled the
196 U49W-C10; C10: 478. Chapter four: disciplining technology page 297 proceduralist to visualise ‘objects’ in the womb to be avoided, such as the placenta and cord as well as the fetus.197 A doctor spoke of contemporary
‘good ultrasound control’ in order to reassure a woman who spoke of stories she had heard about ‘babies being scarred before the days of ultrasound.’198
Occasionally, a client expressed reluctance to unnecessarily undergo ultrasound because of its possible dangers to the fetus. For example, one woman raised concerns about minimising harm to the fetus because of possible radiation effects.199 On the other hand, another expressed concern about minimising health costs:
Client: Right. [Indicates picture of amnio.] So this is done under ultrasound anyway. And while you’re under ultrasound do they, sort of, have a look at the bits and pieces as well? Doctor: Yes, but they’re doing the ultrasound at fifteen weeks. And you get the best look at the baby at eighteen weeks. So, they, um Client: Mm. I’m just concerned, sort of, having too many ultrasounds and Doctor: Sure. Particularly after what’s been in the press lately. I think there’s more evidence that Client: Oh, just dollar-wise too. [Laughs] If everyone had one less ultrasound… (40-year old woman with medical geneticist in training in the mixed public/private clinic.)200
Only occasionally was the potential for harm from ultrasound discussed in the genetic counselling clinic, as shown in the following text. The health professional considered that claims about ultrasound’s dangers were not strong enough to outweigh the potential dangers of maternal age:
Of course the advantage is that there is no known risk for miscarriage with ultrasound. Now, that recent evidence you read in the paper about ultrasound causing risk in pregnancies is preliminary information. It needs to be verified. There need to be other studies that have to say that that is or isn’t correct
197 16W-C14/PT; C14: 95. 198 U2W/M-C7/PT: 256-258. 199 U45W/M-C31; U45W: 773. 200 U46W-C31/PT: 324-333. Chapter four: disciplining technology page 298
information. So, at this point, the ultrasound community has not stopped doing ultrasound. It’s a bit like the story with CVS. It really needs to be clarified and resolved. And I think everyone’s mindful of the fact that you don’t just do ultrasound for the heck of it, that you have to be selective in who has ultrasound and who doesn’t. But where there is a clear indication for doing an ultrasound then that should be an option that’s offered to the patient. So, ultrasound would be another option. An ‘only’ test without anything else being done. (Medical geneticist to 39-year old woman and her partner in the private clinic.)201
On the other hand, a medical professional in this study (a fetal pathologist) told me she had refused to have an ultrasound during her previous pregnancy when she was 36 years of age. She laughingly acknowledged her opinion was different from many of her medical colleagues in the controversy, saying to me ‘Don’t tell anyone.’ She gave two reasons for her resistance. Firstly, she drew on her personal understanding of pregnancy where she was ‘sick of feeling continuously sick’ during five pregnancies in the previous four years—she ‘did not want to risk losing this baby and having to be sick longer.’ Secondly, she drew on scientific data to further justify her resistance to ultrasound. As described for data on the risks of maternal age and Down syndrome (see Chapter 2, Section 2.6), a new analysis of data on the risks of ultrasound had been reported in yearly, rather than five-yearly, intervals. Unlike age-related risks, however, instead of removing a sudden increase in the mid-30s age range the new analysis had discovered a sudden increase in risk to the fetus for ultrasound at 37 years.202 At that time, she probably would have been aware of other studies that supported her opinion.
For example, a recent Australian study had found ultrasound did not reduce
201 U43W/M-C5/PT; C5: 321-329. 202 GC2/3Diary24/8/93: 5. Chapter four: disciplining technology page 299 perinatal morbidity, and might actually be associated with retardation of fetal growth.203
4.2.4 Maternal serum screening: A no risk non-invasive test
What the triple screen is it’s a test done at fifteen weeks. OK? On your blood. So it obviously doesn’t risk the baby in any way. ... So the triple test is really, in some ways, a test you have when you don’t want to really risk the pregnancy with one of these other tests. (Genetic counsellor in training to 38-year old woman in the public clinic.)204
In contrast to ‘invasive’ procedures, maternal serum testing (as for ultrasound) was constructed as a non-invasive test that threatened no danger to the fetus. In observed genetic counselling clinics it was often described in terms of a ‘simple pin prick.’205 Unlike the other ‘non-invasive’ test—ultrasound—maternal serum screening was never considered as potentially harmful to the fetus. The only potential for harm was seen in terms of the woman’s emotions. Firstly, despite its high diagnostic uncertainty described earlier (see sub-section 4.1.2), a genetic counsellor told me maternal serum screening could give ‘reassurance’ to some women who
‘don’t want to put their pregnancies at risk with an amnio or a CVS.’206 A genetic counsellor spoke in an interview of how she would avoid further discussion of amniocentesis or CVS with women who get ‘angry to think they’ve been referred for a test that would endanger their pregnancy.’
Instead, she would offer the triple screen as a means for managing her emotions and reproductive choices.207 Secondly, as described earlier (see sub- section 4.1.2 and in Chapters three and five, many health professionals have
203 This report had been discussed at a preclinical meeting in the public clinic in this study (GC4/7Diary26/7/93: 21-25). 204 U50W-G6; G6: 314, 331. 205 U3W-C7/PT; C7: 135. 206 G3i3: 509. 207 G3i3: 243. Chapter four: disciplining technology page 300 expressed concerns about the potential for emotional harm to women because of maternal serum screening’s high diagnostic uncertainty. Thus, for maternal serum screening an ethics of reproductive choice constructed maternal emotions as the part of the self to be governed.
4.3 Chapter summary: Governing the assembly of technobodies
In this chapter I have examined how the health professional and client in genetic counselling co-construct the tools that can govern the maternal body. I have provided an in-depth description and analysis of how health professionals mobilise a risk discourse in their knowledge claims about the ‘rightness’ (Clarke and Fujimura 1992) of possible assemblages of the maternal body with elements of the prenatal diagnosis package.
I firstly described the technoscientific208 construction of fragmented and multiple fetal bodies in genetic counselling that require to be governed. Amniocentesis most strongly materialises and normalises a genetic body. Although CVS also produces the karyotype, an origins story of difference weakened its ability to perform a similar function. The materialisation and normalisation of a genetic fetal body is weakened further by biochemical tests on amniotic fluid and maternal blood. They construct a more complex genetically determined biochemical body. This effect continued further with the range of diagnostic and quality control roles of ultrasound that constructed a genetically determined anatomical body. Environmental causes were
208 I am not claiming that science and technology determine the body, as I define technoscience in terms of the practices of scientific knowledge claims and technologies. Chapter four: disciplining technology page 301 another set of origins stories about fetal abnormality both outside and inside the genetic counselling clinic.209
I then described professional efforts to govern the maternal body through the consent form. This was a legal tool that translated uncertainties about the technologies’ abilities to diagnose and prevent fetal harm. It was an adjunct to genetic counselling as a technology of the self that constructed the moral obligation of making genetically responsible decisions as an autonomous individual aiming to manage genetic risk. In the remainder of the chapter I described how that complexity of heterogeneous bodies produced in the genetic counselling clinic has been articulated within claims about diagnostic certainty and safety of the different technologies available.
I have described how health professisonals mobilised a risk discourse for normalising and evaluating the four major technologies offered to women to govern fetal abnormality. Amniocentesis has been the gold standard for setting norms of diagnostic certainty and fetal safety. A hierarchy of diagnostic certainty positioned amniocentesis as most certain followed by
CVS. Next came ultrasound and maternal serum screening, which were being intensively negotiated at the time of fieldwork for this study, and it appeared that ultrasound was losing ground (although retaining its reputation for high safety). For safety, the order was inverted, with the exception of CVS that has been positioned last behind amniocentesis.
In observed genetic counselling clinics, only two major causes for fetal harm were discussed: the type of test and operator experience. Health
209 For example, there were a number of women concerned about the effects of medications taken during their pregnancy, (U7W, U14W, U20W, U23W, and the topic for discussion at a preclinical meeting was the fetal effects of a CMV viral infection (GC4/7Diary2/8/93). Chapter four: disciplining technology page 302 professionals in all three clinics offered reassurance to their clients that the proceduralists at their specialised clinics were experts. Their clients’ choices were thus largely limited to technological ones. Greatest choice was given to women to use either amniocentesis or CVS, which were perceived to be most dangerous to the fetus. Health professionals who do genetic counselling mobilised a risk-benefit model to guide the client’s decision-making. The standard for evaluating the risk of procedure-related miscarriage was against that of having a fetus with an abnormality. However, the standard could be varied according to when abnormality was measured (being a higher risk earlier in pregnancy that at birth). Amniocentesis and CVS have been constructed as dangerous to the fetus because they ‘invade’ the maternal body near the site where the fetus is located.
Health professionals in the prenatal diagnosis social world have viewed procedure-related miscarriage after either test as having the potential for harm. However, this risk was interpreted as low enough to not prevent either procedure from being done, whether as a risk of 0.5 to 1 percent for amniocentesis or up to 6 percent for CVS. I have described difficulties in negotiating certainty about the risk estimates and in being able to compare the two procedures. Amniocentesis was the gold standard for low risk of fetal harm. Because CVS is done at an earlier gestational age, estimating its risks was confounded by the problematisation of fetal abnormality (described in
Chapter two) that depicted the first trimester as a time of greater risk of spontaneous miscarriage.
Women were not given a choice about the gestational time that was best for a procedure to be done, nor about the method for doing the procedure.
These choices were assumed to be in the domain of the medico-scientific Chapter four: disciplining technology page 303 expert. In observed genetic counselling clinics, the potential for a procedure to cause pain for the woman was minimised. Instead, the potential for harm focussed on the fetal body. Some international experts were experimenting with amniocentesis in the first trimester (up to as early as 10 weeks’ gestation). However, this was still controversial at the time fieldwork was done for this project, as there were reports that it could cause structural abnormalities as well as miscarriage, and 14 weeks gestation was the accepted minimum in the observed clinics. I have described the lack of consensus about safety of the two alternative methods of CVS. When it first became popular in the 1980s, CVS was most often taught using the transcervical method. However, by the time that fieldwork was done for this project about ten years later there were many proceduralists who preferred the transabdominal method, most probably because of its familiarity from amniocentesis but also because of perceived problems with infection control of the vaginal entrance to the maternal body. Concerns about structural abnormalities with CVS have been more widespread. They were the subjects of intense controversy at the time that fieldwork was done for this project, which appeared to be difficult to simplify in the genetic counselling clinic. In the observed clinics, health professionals were inconsistent in providing information about this risk. Genetic counsellors in particular appeared to resist discussing it at all, whilst doctors usually did and spent considerable time doing so.
For all three major uses of ultrasound, health professionals who did genetic counselling constructed it as safe because, unlike amniocentesis and
CVS it did not penetrate the maternal body at a site near the fetus (it was
‘non-invasive’). New ultrasound technologies have been seen as progressive Chapter four: disciplining technology page 304 in being able to improve the safety of amniocentesis and CVS, as well as being a safer (although less diagnostically certain) alternative to them.
Nevertheless, they were controversial because of claims that they did not improve health outcomes for the baby and had the potential to cause damage to fetal tissue and interfere with development. Maternal serum screening was assumed to pose no harm to the fetus. Although it involved a needle puncture, this was done at a site far removed from the fetus. On the other hand, health professionals did discuss its emotional effects on the woman.
These were seen to be beneficial in some cases, by offering reassurance about a lack of fetal abnormality. More importantly, there were some that were very concerned about maternal serum screening causing unnecessary maternal anxiety (see Chapters two and five for further discussion).
The risk discourse used to discipline women’s technological choices has significant implications for the role of genetic counselling in producing an ethical subject, most obviously in the social relations built into the negotiated knowledge claims about the maternal body and the available technologies. As a result, claims about non-directive genetic counselling as an ideal or as a practice are impossible to achieve. Moreover, however, the risk discourse formed an ethics of reproductive choice through tensions from identifying different parts of the self to be governed—fragmented and multiple fetal bodies; and maternal rationality in governing the emotions and in making genetically responsible decisions. The next chapter continues to examine the risk discourse, but with respect to the role of medicine and government in regulating population access to prenatal diagnosis.
* * * * * Chapter five: regulating access to prenatal diagnosis page 305
Chapter Five
Regulating access to prenatal diagnosis: Governing populations and eugenic ‘monster’ stories
(N)ew genetic technology should be used to provide individuals with more reliable information on which to base personal reproductive choices, not as a tool of public policy or coercion. ... it is the responsibility of policy makers concerned with genetic aspects of human health to seek sound scientific advice’ (‘Ethics and Eugenics’ 1998).
5.1 Introduction
In this chapter I examine how medicine works with government in regulating pregnant women’s access to prenatal diagnosis. I thus complete tracing the biopower ‘circle’ of social relations of the body. My path began by examining the regulation of reproduction of populations (Chapter two), followed by the discipline of the genetically responsible individual (Chapter three) and of the abnormal fetus through assembly with the prenatal diagnosis package
(Chapter four). In this chapter I examine how the collective work of government and medicine regulates populations through the package of prenatal diagnosis technoscience. I describe this in terms of governing an ethics of reproductive choice, in which there are major tensions between two different parts of the self to be governed: the abnormal fetus and the rational individual.
A rhetorics of non-involvement with eugenics, as described in Chapter three (see Section 3.2), has articulated the regulatory power relations described in this chapter. For example, the Australian expert in the medical genetics arena who made the statement shown at the beginning of this chapter sought to resist eugenic ‘monster’ stories that implicate medicine and Chapter five: regulating access to prenatal diagnosis page 306 science in coercive practices. The statement was made in a report on a controversial international genetics conference held in China, a few years after the government there had passed its Law on Maternal and Infant Health
Care.1 The author cited above appears to seek to protect professional power and legitimacy by building a stronger boundary between medicine and government. Eugenics is depicted as a practice of governmental politics external to medical science. Government is nevertheless positioned close enough to retain medicine’s authority in political decision-making processes.
The boundary marks out the professional terrain as a site for producing objective, politically neutral, technoscientific knowledge. External to that site is politics, where the knowledge is applied. Using the social/individual and coercive/voluntary binaries, such knowledge is depicted as ‘sound scientific advice’ in a more or less coercive political process of population (social) control by government. In contrast, for ‘personal reproductive choices’ it is depicted as non-coercive ‘information’ in an apolitical process of individual choice initiated in the medical clinic.
On the other hand, in a debate in the Lancet, some medical geneticists argued for medicine to not distance itself too far from politics (Bobrow 1995;
Clarke 1995; Harper 1995). For example, Clarke (1995) argued in favour of a conference boycott of the Chinese venue, and urged his colleagues to more actively influence government policies on prenatal diagnosis. Indeed, the
1980s saw new power relations between Western medicine and government.
The rise of neo-liberal economic rationalism at that time guided a paradigm for government of rationing health care services and research, and an
1 See footnote 2, Chapter 3, Section 3.2. Chapter five: regulating access to prenatal diagnosis page 307 intensified government of bodies within health services. Rose (1996: 55-56) has described how audit became a ‘versatile and highly transferable technology for governing at a distance’ in ‘advanced’ liberal democracies.2 In the social world of prenatal diagnosis, medical geneticists have responded to intensified audit of medical genetics services with a renewed rhetoric of resisting eugenics (Clarke 1990b; Garver and Garver 1991). For example,
Clarke (1990b: 1146-1147) warned his colleagues to reject cost-benefit analyses as audit tools. Describing them as ‘eugenic’ because they use a
‘vocabulary of social responsibility’ that aims to reduce the incidence of fetal abnormality, he argued for alternative audit measures that included ‘client satisfaction.’ Thus he mobilised the social/individual binary to identify the rational individual as the part of the self to be governed in an ethics of reproductive choice. This strategy also protects professional authority by distancing the medical genetics arena from the politics of government. The tensions between medicine and government described in these examples of a rhetorics of eugenics are the subject of this chapter.
Governing access to prenatal diagnosis relies largely on regulating both bodies and resources through professional controls and governmental economic and legislative controls at local, regional, national and global levels.
Medicine and government initially used the authority of medico-scientific claims about maternal age and chromosomal abnormality in the fetus to regulate women’s access to prenatal diagnosis (see Section 2.6 in Chapter
2 Rose (1996) has defined ‘advanced’ liberal democracies as a new form for articulating power relations between expertise and government. Advanced liberal democracies use techniques ‘that create a distance between the decisions of formal political institutions and other social actors, conceive of their actors in new ways as subjects of responsibility, autonomy and choice, and seek to act upon them through shaping and utilizing their freedom’ (Rose 1996: 53-54). Rose thus supports the analysis of professional power relations by Gieryn (1995: 434-439), who described protection strategies for maintaining professional boundaries by placing politics at a distance. Chapter five: regulating access to prenatal diagnosis page 308 two). Maternal age screening was strongly integrated into the standardised package of prenatal diagnosis with its formation in the early 1970s.
‘Advanced maternal age’ screening promised to save government money, by both rationing prenatal diagnosis resources and by fewer resources being needed to care for people born with Down syndrome, as it was assumed that many would be aborted after diagnosis. It provided medicine a tool to manage increasing clinical and laboratory workloads, including the growth of new specialist health professionals such as the genetic counsellor. The later invention of maternal serum screening promised to save government even more money, as it had the potential for detecting more fetuses with Down syndrome. For medicine, such promises were not so clearly hopeful. Medical genetics experienced difficulties in controlling the provision of information before testing, the laboratory testing services themselves, and the pregnant woman’s relations with the other components of the prenatal diagnosis package. In the remainder of this chapter I provide a sociohistorical account of an ethics of reproductive choice as they have been articulated through changes in screening technologies that govern access to prenatal diagnosis.
5.2 Maternal age screening and the prenatal diagnosis standardised package
5.2.1 The clinic as a localised regulatory site
The genetic counselling clinic is for women who have: • Previous unexplained stillbirths or neonatal death • Family history of genetic disorders • Previous abnormal children (including stillbirth or neonatal death) • Partner or self with a genetic disorder • Blood disorder • Any other criteria as prescribed by Medical Officer Referrals: Outpatients Department, Professor C8 or H4, Family Chapter five: regulating access to prenatal diagnosis page 309
Planning, Medical Officer attached to H10 per Professor C8. No self referrals. Refer to Professor C8 (Written instructions to booking clerks in the public clinic).3
Shown above are instructions (written by the head of the nearby genetics unit) for the clerks in the publicly funded hospital clinic, to guide them in booking women into the genetic counselling clinic for prenatal diagnosis.
Conspicuously absent is the major class of women who attended—those of
‘advanced maternal age’ aged 37 years or more. That class had come to form a routine part of the booking clerks’ activities for which they needed no specific instructions.4 Medicine exerted regulatory power through the booking clerks, who simply asked an extra question about the woman’s age at the same time as making the appointment for her first prenatal visit. Thus, no specialised testing equipment or highly trained professional was necessary for maternal age screening.5
At the public hospital clinic (GC7) in this study, the booking clerks regarded the genetics clinic as a quiet time suitable for catching up on paperwork or for training new staff, compared with other very busy outpatient clinics held in the same space (the one hour consultation times used for bookings at the genetics clinic were a longer time than for the other
3 GC4/7Diary20/12/93: 73-81. 4 Although genetic counsellors were employed to coordinate the clinic, other lower paid administrative staff usually did the appointment work, especially for women of ‘advanced maternal age’. 5 Note, however, that the instructions to the booking clerks tried to limit referrals to the clinic to those with medical authority. Chapter five: regulating access to prenatal diagnosis page 310 clinics).6 Because it was a publicly funded clinic, no accounts were prepared for patients, no money changed hands, and the health professionals providing genetic counselling usually did not express an interest in such financial matters.7 Thus, government exerted regulatory power through the booking clerks who supervised patient’s use of their Medicare card, which they were required to provide at each visit.8 Moreover, because it was an outpatients’ clinic in a publicly funded hospital, the clinic rooms were poorly resourced and uninviting.9 The clinic space, therefore, also regulated women’s access, in that women who could pay for better-resourced services were likely to go elsewhere.
I collected quantitative data on women who accessed fifteen genetic counselling clinics in the public hospital (GC7) in this study. Table 1 shows
6 Up to four booking clerks were employed in the clinic, and their training took about three months to complete. During my observations only women were employed and staff were hard to find (possibly because of the low wages). Some clearly were not suited. For example, one woman who had transferred from kitchen duties in the hospital after a car accident robbed her of her physical strength. She complained to me that she felt stressed by the ‘head’ work involved (GC7 Diary 16/8/93). There was a large amount of paperwork for the hospital bureaucracy. The appointment sheet for each clinic was filled out in quadruplicate. The genetic counsellor used one copy to coordinate the clinic, and the other three were processed into the hospital records. Booking clerks and/or the genetic counsellor also had to locate and retrieve patient records from the hospital systems before the appointment. The booking clerks also organised interpreters, if needed, who were seen as an added difficulty in clinic organization. 7 During one genetic counselling session, I observed the medical geneticist in charge of the clinic extensively quiz a client about her income. The woman had disclosed she was a doctor on a low income—a research scholarship—but that she was married to a man with a professional income and had sufficient resources to travel overseas to conferences. The medical geneticist referred her to a private fee-paying service, stating ‘if you’ve got private health insurance (it) should be used to save the public health system. That’s something that I feel strongly about’ (U30W-C10/PT: 281). Thus, the doctor used her medical authority to regulate access by constructing a moral duty for the client to care for the health of the nation, by leaving publicly funded services for those with less means to pay. I did not observe other genetic counselling staff extend regulation this far. One genetic counsellor mentioned charges briefly, and this was to respond to a patient’s question by stating that she was not sure what the charges were (U37W-G6/PT: 315-318). 8 A sign at the reception desk warned that failure to bring the Medicare card to the clinic ‘may result in your being charged the Medicare rate of $75.40 per occasion of service’—a large sum of money for someone on a low income. 9 The waiting room was large, and furnished cheaply with vinyl flooring and plastic seating in uncoordinated and cheerless colours. The consulting rooms were sparsely furnished with worn furniture. Phones, necessary for booking women in for dating ultrasounds and prenatal diagnosis procedures, were in short supply (due to repeated thefts). Chapter five: regulating access to prenatal diagnosis page 311 that a majority of appointments were made for ‘advanced maternal age’
(women aged 37 years or more), comprising just over two-thirds (68 percent, or 175/256) of all women who were booked to attend the genetic counselling clinic. The rate was a little higher amongst those of non-English speaking background (NESB) and who used interpreter services10 (72 percent, or
50/69), compared with those who did not (67 percent, or 125/187). Just under one-third (29 percent, or 69/256) of all women who made an appointment were in the NESB group. There were two language groups most often represented amongst NESB women. The Chinese (Cantonese or
Mandarin) language group was in the majority, forming about two-thirds (65 percent, or 45/69) of all NESB women, and 17.5 percent of all women who made an appointment. The next largest was the Vietnamese language group, comprising about one-fifth (19 percent, or 13/69) of all NESB women. Of those who made an appointment, about three-quarters (77 percent, or
197/256) actually attended the clinic, irrespective of whether they used interpreter services (75.4 percent, or 52/69) or did not (77.5 percent, or
145/187).11
Table 2 shows attendance details for women of ‘advanced maternal age’ according to their language group. They had an attendance rate similar to women attending for other reasons. About three-quarters (76 percent, or
133/175) of women of advanced maternal age kept their appointment compared with the rate for all women (77 percent, or 197/256), and their attendance rate did not differ between NESB and English language groups
10 Women of non-English speaking background who may have had difficulties with the English language but did not use interpreter services were included in the English language group. 11 I was unable to access data on language groups using other hospital services for comparative purposes. Chapter five:regulatingaccesstoprenataldiagnosis
Purpose of Visit 2 Attendance Details3 Total Language Aged 37 Did Not Appoint- 4 Not Attended Group Yrs or Other5 Attend ments Specified Clinic More Clinic6 Made
Arabic 4 1 - 4 1 5
Bengali 1 - - 1 - 1
Chinese 29 10 6 32 13 45
Indonesian 1 - - 1 - 1
Portugese 2 - - 2 - 2
Thai 2 - - 1 1 2
Vietnamese 11 1 1 11 2 13
Total NESB 50 12 7 52 17 69 requiring interpreter services
English 125 40 22 145 42 187
175 52 29 197 59 256 page 312 Total
Table 1: Attendance at Genetics Clinic (GC7) according to purpose of visit and language group1 Chapter five: regulating access to prenatal diagnosis page 313
Attendance Details3
Language Group4 Attended Did Not Total Clinic Attend Appointments Clinic6 Made
Arabic 3 1 4
Bengali 1 1
Chinese 20 9 29
Indonesian 1 1
Portugese 2 2
Thai 1 1 2
Vietnamese 10 1 11
Total NESB requiring 38 12 50 interpreter services
English 95 30 125
Total 133 42 175
Table 2: Attendance at Genetics Clinic (GC7) for Women Aged 37 Years or More1,2 Chapter five: regulating access to prenatal diagnosis page 314
Notes to Tables 2 and 3
1 The genetics clinic was held one morning per week. Data on attendance was collected from 19.7.93 to 14.2.94. The total number of clinics for which data was collected was 15. Data was not collected every week because of occasional conflict with other data collection activities, and the clinic was not held over the Christmas/New Year break.
2 The purpose of visit as written on the booking sheet was used. Information was sometimes missing and not able to be found on furthe rinquiry. Some women had more than one purpose of visit: they were included in the data set for women aged 37 years or more if that was one of the purposes. From observations of genetic counselling sessions it became clear that the purpose of visit stated by the woman sometimes differed from that stated on the booking sheet. The booking sheets noted that 3 women were not pregnant.
3 There was an average of about 10 genetic counselling sessions per clinic. Bookings were arranged in 3 groups of 3 concurrent 1-hour genetic counselling sessions (scheduled for 9.30, 10.30 and 11.30 am). There were 13 women who had booked more than once but who attended one clinic only, after cancelling or failing to show for their earlier appointment(s). They were included in the data set only once.
4 The language groups were defined by the use of an interpreter (the Chinese language group included Cantonese and Mandarin). For many, the interpreter was organised by the hospital, but 2 women used a family member. The English language group included women who had English as a second language but did not use an interpreter (some, however, had difficulties with the English language).
5 Examples of other purposes of visit included: fetal abnormalities suspected in current pregnancy; hereditary abnormalities in the family (Down syndrome, thalassaemia, cystic fibrosis, Huntington disease, spina bifida); consanguinity; various problems with previous pregnancies (multiple miscarriages, ‘death in utero’, ‘fetal abnormalities, ‘stillborn baby’, and ‘baby died’); maternal medications; and exposure to radiation, and ‘maternal anxiety’ (ie, women aged below 37 years anxious about chromosomal abnormalities in the fetus).
6 Examples of reason for non-attendance at the clinic included: miscarriage; ‘termination of pregnancy’; and ‘in hospital.’ Chapter five: regulating access to prenatal diagnosis page 315
(38/50 and 95/125 respectively). However, there were different attendance rates within the NESB group. For example, just over two-thirds (69 percent, or 20/29) of the Chinese language group attended compared with nearly all
(91 percent, 10/11) of the Vietnamese. These differences may have been exaggerated by the small sample size.12
The genetic counselling clinic in this study that served both public and privately funded patients (GC2) was held in a suite of offices usually used by fee-paying obstetric patients. This site was made available by the supervising obstetrician (C22) because of his good relations with the diagnostic proceduralist (C6) in this study. The clinic space was much more aesthetically pleasing.13 However, the three reception staff members were not available.
Instead, the proceduralist employed a trained nurse (G6) to make appointments and coordinate the clinic. The nurse identified herself as a nurse counsellor, rather than a genetic counsellor. Her other duties included genetic counselling outside clinic hours, as well as organising and assisting in the prenatal diagnosis procedural clinic. As with the public clinic, however, costs of services were not an important issue for the health professionals working in this clinic.14
12 It should be noted that an interpreter for Cantonese and Mandarin gave me her opinion that only about 10 percent of women were very interested in the information provided at genetic counselling whilst about half were not interested at all and kept the consultation short by not asking questions. (GC4/7Diary2/8/93). I was unable to verify this. I had excluded from my project observations of genetic counselling that required an interpreter because I lacked the resources to obtain interpreter services for gaining consent from participants before their clinic. 13 The clinic rooms had more expensive and comfortable furnishings, attractive pictures of landscape scenes on the walls, carpeting on the floors and air conditioning. They were smaller than GC7. 14 For example, the nurse counsellor did not consider the cost to the hospital of a 40- minute long-distance counselling session as important as the cost to the woman if she had to travel to the city for genetic counselling. Equity of access was the most important factor to her (G4i4: 673). Chapter five: regulating access to prenatal diagnosis page 316
The private practice clinic (GC6) in this study processed bills for payment immediately after the consultation, which could be reimbursed from
Medicare and private health funds. This clinic was held in a smaller space again, with aesthetically pleasing and comfortable furnishings. There was only one person employed to coordinate the clinic, who identified herself as a medical secretary. She also had some duties of genetic counsellors in other clinics. For example, I observed her calculate the gestational age of pregnancies before appointments, provide results of tests over the phone, and occasionally advise women on the phone about risks to the fetus of different procedures and of chromosomal abnormality.15
From the sample of three clinics in this project I have provided a brief local ‘snapshot’ of wider regulatory forces governing access to prenatal diagnosis. Medicine’s role has been shown in the doctor’s position of power in the clinic, and I have described how medical power acts through other agents who regulate access to prenatal diagnosis to the three clinics studied in this project.16 I have also described how medicine and government exert power through the physical space of the clinic itself. The genetic counselling clinics observed in this study, however, were linked into a network of other regulatory agents and forces. For example, staff at each genetic counselling clinic worked closely with a cytogenetics laboratory (usually located in the same hospital as the clinical genetics unit) in the analysis of samples after a procedure. These specialised laboratories also analysed samples received
15 GC6Diary 7/12/92 16 In another medical genetics unit (GC1), I observed a medical geneticist advise a genetic counsellor that a 35-year old woman, who wanted an amniocentesis after having had a child with an abnormality that could not be detected by amniocentesis, should not be offered amniocentesis unless she could be ‘more articulate about her fear of Down syndrome’ (C1G2Supvn: 88). In such cases, the genetic counsellor rather than the booking clerk was an agent for medical authority in screening access to prenatal diagnosis. Her role was to ensure the government of both a fetal body with Down syndrome and a rational individual. Chapter five: regulating access to prenatal diagnosis page 317 from approved private practitioners. Women’s access to the publicly funded clinics was regulated by government (their geographic location by residential address positioned them within government-defined boundaries of the hospital in which the clinic was located) or by medicine (they were referred by doctors in accordance with an informal agreement between the four medical genetics units).17 Government and medicine regulated the very provision of the services themselves—the clinics, laboratories, procedural techniques, and the success (or otherwise) of knowledge claims about the best screening technologies to gain access to them. The next section describes these broader regulatory mechanisms in more detail.
5.2.2 Global and national regulation
All communities agree on use (of amniocentesis) in women over 40 for diagnosis of Down’s syndrome; opinions vary about low cut- off ages down to 35 years, but most agree that when facilities are limited it is better to concentrate on achieving high utilisation above a chosen cut-off before lowering the cut-off. Use in women less than 35 years is not recommended on risk/benefit or cost/benefit arguments (SCOHM Conference Super-Specialty Services Working Party 1985: 20).
Maternal age has been a major tool for medicine and government to regulate a prenatal diagnosis standardised package and access to it, and the above example shows how medicine and government negotiated access to prenatal diagnosis when its use in Australia began to escalate. An example from fieldwork for this project shows how the regulatory aims of medicine and government have become tightly enmeshed. One doctor in this study noted in an interview that, for women below the maternal age limit set by government,
‘it’s not their right to have a test, because the government can’t afford it.’18
17 C6i2: 18 18 C33i1: 684 Chapter five: regulating access to prenatal diagnosis page 318
Another example, however, shows the tensions in relations between medicine and government. In the early 1980s in the US, when medicine was agitating for women’s greater access to prenatal diagnosis (AMA Council on Scientific
Affairs 1982; Lippman 1991: 34-35), a US Presidential Inquiry recommended that, on the grounds of equity of access, maternal age screening should no longer be used and that all women should have access to the prenatal diagnosis package (President’s Commission 1983: 75-81).19 Nevertheless, it did not recommend changes to policy itself, because of the high economic cost to government of providing sufficient services for the anticipated large increase in demand.
Regulation occurs both in the clinic (as described in the previous sub- section) and through broader formal mechanisms (such as government funding and legislative and social policy controls) as well as by less formal means (such as evaluation and audit, self-regulation of professional accreditation and the division of labour, and medicine’s lobbying of government individually and through professional associations). Government funding can be at both the national and State level and shared with the private sector to a greater or lesser extent depending on government policy.
Funding can be for services and health insurance schemes, and are usually
19 Demographic data showed that women aged less than 35 years were bearing 80 percent of babies with Down syndrome. It was estimated that at the end of the 1960s women aged 35 or more gave birth to about 44 to 50 percent of babies with Down syndrome and that ten years later (with the introduction of prenatal diagnosis and their access to it) this rate had more than halved to about 21 percent (President’s Commission 1983: 78). Chapter five: regulating access to prenatal diagnosis page 319 tightly linked to legislative controls.20 Legislative controls also can operate at both national and State levels.21 Government licensing of doctors and other professional controls are another means of regulating prenatal diagnosis, by both legislation and policy.22 Policy can be set at the international as well as national and State levels.23 Such a range of regulatory mechanisms has
20 For example, health care in the US comprises nearly 14 percent of the GDP. Increasingly, privately funded health maintenance organizations (HMOs) have taken over government regulation of health care (Riordan and Pereira 1996: 579-580). Publicly funded health insurance coverage varies for different components of the prenatal diagnosis package and, where available, reimbursements are lower than the usual charges. In the US, for example, about 10 percent of the US population is not covered by any insurance scheme, nearly 20 percent rely on public insurance, and about 75 percent have private insurance. Even for the more economically privileged, privately funded services have been not always covered by some health insurers. Only 50 percent of private insurance companies reimburse genetic counselling costs (Charo 1993b: 570). In the UK health care is about half that of the US, comprising about 7 percent of the national GDP. Although the country has a well- developed government funded National Health Scheme, about 11 percent of the population is covered by private health insurance (Riordan and Pereira 1996: 579). 21 Federal legislative controls on laboratories in the US have specified standards for professional qualifications of staff and for the facilities at a national level. For example, the 1988 Clinical Laboratory Improvement Amendments (CLIA) to the original 1967 law) have governed laboratories. Clinical services, on the other hand, have been regulated primarily through State laws that similarly specify standards for professional qualifications and facilities (Charo 1993b: 571-575). 22 For example, in Australia, registration boards license health professionals such as doctors and nurses. These are statutory authorities established by legislation in each State or Territory. An advisory body to the Federal government (the Australian Medical Council) provides advice on registration of doctors and on standards for medical education and training. It also advises medical boards and maintains a national network of medical registers (‘Australian Medical Council’ n.d.). The government usually does not license non- medically trained genetic counsellors, who are instead regulated by their peers in the medical genetics arena (see Chapter three). 23 At the international level, an example is the recent OECD workshop on genetic testing, which considered international harmonization in assessing and regulating access to genetic testing technologies (OECD 2000). A US example at the national level is the Council of Regional Networks for Genetic Services (CORN). This is a consortium of genetics services providers, public health professionals and consumers, which is funded by the Federal government to provide policy advice. CORN also has been active in governing quality assurance of genetics services (Charo 1993b: 575). Chapter five: regulating access to prenatal diagnosis page 320 resulted in an uneven distribution of services.24
Medicine and government have negotiated a multiplicity of meanings for “advanced maternal age” as a screening tool for regulating access. When prenatal diagnosis was first introduced, a benchmark maternal age was set at
35 years. According to Kuppermann et al (1999: 160), there were at least four reasons for setting that benchmark. Firstly, empricial data has shown a sudden increase in risk of Down syndrome from that age (but see Chapter two). Secondly, there were limited numbers of trained staff and laboratory facilities (see Chapter three). Thirdly, risk-benefit arguments equated the risk of a procedure-related miscarriage with that of a chromosomal abnormality in the fetus (see Chapter four). Finally, cost-benefit studies showed economic benefits to government from maximising the opportunity to diagnose and abort the fetus with Down syndrome, because of the projected reduction in costs of caring for people born with Down syndrome (discussed in this chapter). All focussed on the aim of governing fetal abnormality. The development of the genetic counsellor as a cheaper health professional also facilitated the development of the psychosocial model of genetic counselling
(see Chapter three) and, thus, a second ethical aim of governing the
24 For example, in the US a national survey of prenatal genetic services at the end of the 1980s found resources were unevenly distributed and heavily dependent on State support. Nevertheless, about 90 percent of States offered prenatal screening, counselling and/or diagnostic services) (Meaney, Riggle, Cunningham, Stern, and Davis 1993: 510). Historically, US legislation (the National Genetic Diseases Act of 1976) empowered the Federal government to fund genetic, as well as research and professional and public education, services in each state. Genetic services were funded largely through a block grant for maternal and child health, of which it formed a very small part (less than 2 percent in 1990). Abortion services were not funded by this route. Currently, States use their own funds to finance the majority of medical genetics services. Some States selectively support components of the prenatal diagnosis package. For example, in Minnesota the government established extensive testing services but limited its use for abortion by funding almost no abortion services, and the Tennessee government established policy that specifically excluded prenatal diagnosis being used for abortion (Charo 1993b: 568-570). Chapter five: regulating access to prenatal diagnosis page 321 rationality of the maternal body. Ethical regulation of women’s access to prenatal diagnosis thus came to include governing their emotional state.
Since prenatal diagnosis was first practised, governments have regulated access by using evaluation technologies largely based on economic models that complemented the later development of audit technologies. An early report by the World Health Organization (WHO) noted that limitations on resources meant that ‘some consideration of cost-effectiveness and social value may influence decisions about when and how to apply knowledge to the problem’ (WHO 1972: 6). The WHO estimated that if screening of all women over 35 years of age was done with a ‘public health objective,’ ‘the incidence of Down’s syndrome could be reduced by about one half’ if done ‘with selective termination where indicated’ (WHO 1972: 19). Such a cost- effectiveness method of evaluation does not price benefits, which are described qualitatively in terms of physical wellbeing (New England Regional
Genetics Group 1997).25 An early public health justification for a government funded prenatal diagnosis program in New York City recommended a staged introduction of screening according to maternal age, from 40, to 35 and then
30 years before testing all pregnant women to achieve a maximum rate of prevention of Down syndrome. Without giving detailed costings, that report simply noted:
The cost of screening mothers over thirty, at the current rates charged in New York City, is certainly less than that of caring for cases of Down’s syndrome among them. We are less certain about the balance of costs, at current rates, of screening the whole pregnant population. But is a detailed estimate of money costs required? The lifelong care of severely retarded persons is so burdensome in almost every human dimension that no preventive
25 Thus the WHO’s evaluation of maternal age screening compared the costs of different screening strategies (ie, different maternal age risks for fetal abnormality) in order to maximise benefits in terms of an ethical goal of producing a normal (healthy) child. Chapter five: regulating access to prenatal diagnosis page 322
programme is likely to outweigh the burden (Stein, Susser, and Guterman 1973: 308:).
Nevertheless, cost-benefit evaluations26 soon became popular. An early
US example in the regulation of access to prenatal diagnosis is the evaluation by Hook and Chambers (1977). Working on the epidemiology of ‘birth defects’ for the New York Department of Health, they compared ‘the financial costs of procedures’ with ‘the consequent financial benefits to government derived from avoiding an instance of Down syndrome or other defect.’ For them, the most ‘rational’ analysis was a governmental ‘economic perspective of society’ rather than a ‘woman’s perspective’ with its individual variation
(Hook and Chambers 1977: 124, 130).27 Their analysis therefore closely aligned medical aims with government’s economic aims of population regulation. They mobilised the social/individual binary to adopt a position often criticised in debates as eugenic (see Chapter three), without identifying their goal as ‘eugenic.’ Their conclusion that a cost-benefit analysis yielded a
‘break even point’ for regulating access to prenatal diagnosis at a minimum maternal age of 36.2 years (Hook and Chambers 1977: 140) complemented other studies at that time.28 Thus government and medicine could produce cost-benefit evaluations that conveniently complemented risk-benefit
26 Cost-benefit methods incorporate both cost-effectiveness and risk-benefit analyses, but measure benefits in monetary terms (New England Regional Genetics Group 1997). 27 Later, Hook (1991) argued that women’s perspectives could be measured and incorporated into cost-benefit analyses. 28 An early UK example is Hagard and Carter (1976). An early Australian example is a cost-benefit analysis made by health professionals in the mid-1980s to argue for greater government funding of genetic prenatal diagnosis services. By assuming all twelve fetuses with Down syndrome detectable per year in New South Wales would be aborted, they concluded that the State government would make a total saving of $53,000 per year. They calculated even greater savings to the government ($792,000 over 5 years) if it increased funding of the extra medical services sufficient to achieve a 50 percent utilisation rate (NSW Health 1987: 29). Chapter five: regulating access to prenatal diagnosis page 323 analyses, which set procedural safety limits at a maternal age of about 35 years or more (see Chapter four).
When CVS was introduced in the 1980s, one of its perceived major benefits was its ability to reduce the emotional costs to women, as they could have a diagnosis and possible abortion earlier in the pregnancy (Kullander and Sandahl 1973: 355; Rodeck and Morsman 1983: 338; Ward, Modell,
Petrou, Karagözlü, and Douratsos 1983: 1542). It thus focussed on maternal rationality as an additional part of the self to be governed in an ethics of reproductive choice. Similarly, the aim of governing maternal rationality has guided more recent criticisms of existing evaluation methods. Critics have called for the inclusion of ‘intangible’ costs and benefits, such as psychosocial wellbeing associated with individual choices about testing and abortion
(Shackley 1996: 393-394). Another criticism of cost-benefit methods has been that by aggregating costs and benefits they ignore inequities of distribution across a society. For example, benefits enjoyed by one social class may be at the cost of another (New England Regional Genetics Group
1997; Mooney and Lange 1993; Shackley 1996). As a result, researchers have turned again to cost-effectiveness methods and to newer utility methods.
Non-‘economic’ measures that have been explored include QALYs (quality adjusted life years) (Feeny and Torrance 1989; Heckerling and Verp 1994), and an individual woman’s ‘regret’ and deprivation’ (Mooney and Lange
1993) or her ‘willingness to pay’ (Shackley 1996: 393-394).
One possible reason that medicine has been so willing to participate in economic evaluations of genetic diagnosis is that they offer the profession a strategy of protection from unwanted political intrusion into professional autonomy. For example, according to Hook (1991), cost-benefit methods have Chapter five: regulating access to prenatal diagnosis page 324 been effective in obtaining government-subsidised prenatal diagnosis programs, and those who criticise cost-benefit evaluations threaten their continuing government support. Thus Hook supported economic evaluations in order to protect professional autonomy —indeed, its very survival— in the provision of adequate prenatal diagnosis services. Other health professionals in the US medical genetics arena have claimed that economic analyses that are ‘scientifically based on accurate data and experience’ can be ethical and useful for establishing health policy about resource allocation and access
(New England Regional Genetics Group 1997). Similarly, Kaplan (1993: 611), a US disability activist, has argued that ‘the benefits from prenatal screening should be defined clearly and be measurable’. For these actors, the authority of an objective scientific method is useful for both health professional and non-professional as a means for claiming ethical work. For the health professional, science can further protect professional autonomy through its perceived ability to make sound truth claims free of political contamination.
Despite the perceptions by medicine and government of the need for prenatal diagnosis and their search for effective tools to regulate access, many of the women permitted access do not make use of the service. In the major industrialised nations, it has been estimated that no more than 50 percent of eligible women actually have a diagnostic test, although rates of uptake can vary—even within a nation.29 For example, doctors in the US in
1974 recommended amniocentesis for all women aged over 35 years, but by
29 In other nation states, prenatal diagnosis services are often present. However, they are used by only a very small sector of the population (usually the privileged classes), where the frequently illegal status of abortion restricts their availability in publicly funded medical clinics, whilst services offered in private practice are more strongly governed by entrepreneurial and commercial aims than the needs of the women using them (Penchaszadeh 1993). Chapter five: regulating access to prenatal diagnosis page 325
1976 no more than about 10 percent of women in that age group in the US were being tested (Sokal, Byrd, Chen, Goldberg, and Oakley 1980: 1357). By the early 1980s it was reported that uptake in one US county ranged from 60 percent of whites in large urban locations to 0.5 percent for blacks in rural locations (Sokal et al. 1980), and in one university hospital in California a recent study found a markedly lower use of prenatal diagnosis than white women for black women (one-third the rate) and Latina women (one-fourth)
(Kuppermann, Gattes, and Washington 1996). The rate of access to prenatal diagnosis in New York City, a highly concentrated urban location, has been higher than the national average: in 1979 it was about 25 percent of pregnant women, rising to just over 45 percent by 1983 (Hsu 1986: 116).30 Similarly, there has been a wide variation in access in the UK. In just one city
(Birmingham) it was measured at between 0 to 50 percent of eligible women
(Bernhardt and Bannerman 1982), whilst for the whole of England and Wales it was 45 percent for women aged 40 years or over compared with 20 percent for women aged 35 to 37 years (Lilford 1990: 70).
Some factors that affect women’s use of the prenatal diagnosis package
(including their access to genetic counselling) are differences in national wealth, urban concentration of populations (including health professionals), and socioeconomic, ethnic and language barriers. In addition, genetic counselling plays a role through constructing the woman as able to make choices autonomously. Thus, as for some of the health professionals in this project, genetic counselling can be interpreted as successful when women
30 The high level of prenatal diagnosis activity in New York City would have supported the research by those who worked there, such as the social research by Rothman (employed at the City University of New York) and Rapp (at the New School for Social Research) and the epidemiological work by Hook (employed at the New York State Department of Health). Chapter five: regulating access to prenatal diagnosis page 326 resist by choosing not to have a prenatal diagnosis test. It has been estimated in some UK and other European studies that, after genetic counselling, between 15 to 40 percent of women did not then have the procedure (Royal
College of Physicians of London 1989: 39). One aim of medical genetics services is to devolve some genetic counselling work through genetic education to other health professionals. For example, GPs or obstetricians can inform pregnant women about their about age-related risks of chromosomal abnormality in the fetus. In Australia in 1993, at the time that fieldwork was done for this study, most women used medical services during their pregnancy.31 Nevertheless, only about one-third of women aged 35-39, and half of those aged 40 and over, had cytogenetic prenatal diagnosis testing
(NSWGSAC 1993: 39). In New South Wales about 50 percent of pregnant women aged 37 years and over were having prenatal diagnosis testing at that time (Taylor 1992: 99), despite medicine and government having set an aim five years previously of achieving a 70 percent rate (NSW Health 1987: 53).
The remainder of this sub-section provides an overview of mechanisms in
Australia that regulate prenatal diagnosis and access to it.
There has been a major recent initiative in Federal government policy in the medical genetics arena within Australia. The Minister has expanded the role of its principal committee—AHEC (see Key to Committees Listed in
Appendix 7)32 —to include stimulating public debate about health ethics, and has identified human genetics as a major focus of concern (NHMRC 2001).
31 About fifty percent of all pregnant women consulted a specialist obstetrician for prenatal care, whilst about 20 percent consulted a GP or a public hospital clinic (NSW Ministerial Task Force on Obstetric Services in NSW 1989: 8). However, women who attended after a gestational age of about 16 to 17 weeks would be unable to access prenatal diagnosis. 32 AHEC has also recently published two guidelines for medical genetics: one for genetic registers and other genetic material, and the other for reviewing research on human somatic cell gene and related therapy (NHMRC 2001). Chapter five: regulating access to prenatal diagnosis page 327
An early result has been a recently published a paper by the NHMRC on the ethics of genetic testing (NHMRC 2000), which has provided a means for government and medicine to identify issues for concern (consent, counselling, privacy and confidentiality). The paper was prepared by a small working party of four members—a medical geneticist, a genetic epidemiologist, a philosopher, and medical ethicist who is also a disability activist. Although the paper focuses on inherited genetic abnormalities, it does refer to genetic counselling, and prenatal diagnosis and screening tests that form the subject of this project (NHMRC 2000: 17-19, 29-32). The paper indicates a complexity of ethics guiding genetic counselling, in that it accepts an ‘imbalance of knowledge and power’ in genetic counselling, warns the health professional to guard against being directive, and challenges the non- directive model of genetic counselling with some exceptions. Nevertheless, it asserts that genetic counselling can—and ‘should’— be non-directive
(NHMRC 2000: 31). Despite it not having a prescriptive aim (NHMRC 2000:
5), the paper repeatedly makes such strongly prescriptive statements. For example, it states that the health professional doing genetic counselling
‘should be appropriately qualified,’ and the only two examples given are the medical geneticist and genetic counsellor (NHMRC 2000: 30). Interestingly, it prescribes genetic counselling with prenatal diagnosis testing only after diagnostic testing detects an abnormality. In a significant move away from historical precedent, the authors describe the provision of information before most routine genetic testing as an ‘educational process’ not requiring genetic counselling, which in contrast ‘encompasses both information giving and discussion of the implications for the individual in a contextual framework that is unique for each person’ (NHMRC 2000:30). They create a discursive Chapter five: regulating access to prenatal diagnosis page 328 space for other health professionals and/or ‘printed/audiovisual resources’ to fill this role, identifying the fetal body as the part of the maternal body to be governed, to the exclusion of maternal rationality. They also assert that people be ‘informed’ before testing about uncertainties in any genetic screening test—maternal serum screening for Down syndrome is the example given (NHMRC 2000: 18)—thus, again, providing a discursive space that eliminates the need for a genetic counsellor and despite the considerable concerns that have been raised about potential emotional dangers for women after such testing. The paper differentiates between the processes of giving information and genetic counselling (NHMRC 2000: 30), but is confusing about the area between this constructed binary. It confuses the ‘counsellor’ role in governing individual rationality, as it is unclear about whether it refers to those who do genetic counselling, or those who have been ‘educated’ to provide basic information and also manage the individual’s emotional and decision-making processes (NHMRC 2000: 29-32).33 Its subsequent statement that only genetic counselling requires ‘training and experience in counselling’ (NHMRC 2000: 30) contradicts the latter role or, at best, leaves unexamined ethical questions about counselling training for health professionals.34
The NHMRC paper is therefore another tool for medicine to perform
‘genetic education’ of the health professional and others. It indicates that the tool may be used in the future to rearrange the prenatal diagnosis package. It
33 It also makes the prescriptive statement that ‘counselling and support should be provided both before and after testing’ (NHMRC 2000: 31), when counselling and genetic counselling are both understood to include support. 34 Another inconsistency is when the paper recommends providing only information on carrier testing for Tay Sachs disease in the Jewish community because the population as a whole ‘has been consulted and supports the program’ (NHMRC 2000: 30In this case, it identifies populations rather than individuals that need to be governed, by assuming that the community governs individual rationality by providing emotional support. Chapter five: regulating access to prenatal diagnosis page 329 appears to re-position genetic counselling for chromosomal abnormality in the fetus so that it is done only after an abnormality is detected. Labour- intensive (and, thus, costly) genetic counselling can be more available for its anticipated increased need with other genetic testing in the future. Actors in the social world of genetic counselling and prenatal diagnosis35 thus have enrolled the Federal government and other experts in the social worlds of medical ethics and disability activism to successfully continue to construct medical genetics as a means for individuals to govern themselves ethically by acting as genetically responsible decision-makers.36
Government funding of prenatal diagnosis is done largely through two major routes that are subject to legislative controls. The first depends on
Federal-State relations through grants to States for hospital-based services.37
The second depends on services to individuals through the Medicare health
35 The medical geneticist on the NHMRC working party was Assoc Professor Eric Haan, currently President of the HGSA, Chair of its Genetics Services Committee and a member of the organization’s Ethics and Social Issues Committee. The genetic epidemiologist, Dr Jane Halliday, is currently a member of the HGSA’s Combined Prenatal Diagnosis Committee & Joint HGSA /RACOG Maternal Serum Testing Committee (HGSA 2002). 36 Medical genetics has successfully enrolled law and government in a similar ethical aim, participating in a current joint enquiry between AHEC and the Australian Law Reform Commission into protection of human genetic information (NHMRC 2002b). 37 The Federal government funds State hospital systems through the Australian Health Care Agreements, under the Health Care (Appropriation) Act 1998 (HAFD 2000). This system continues one begun under Medicare, in which funds provided by the Federal government are required to be used by the States for free public hospital services (Palmer and Short 2000: 82). Chapter five: regulating access to prenatal diagnosis page 330 insurance scheme.38 Medicare enables a relatively high level of government funding of health services compared, for example, with the US but with less direct controls over health professionals than, for example, the UK with its
National Health Scheme (Palmer and Short 2000: 58).39 Appendix 7 provides a ‘site map’ of a complexity of departments and committees within the
Federal government’s bureaucratic organization, which regulates health services and technologies relevant to discussion in this chapter.
Evaluation of (mainly new) health technologies and services is a means of containing costs within the Medicare scheme. This is now carried out by the MSAC (Medicare Services Advisory Committee), which was established in
1998. Through the MSAC, the Federal government has claimed scientific authority for its policy decisions based on a model of evidence-based
38 A conservative Liberal-Country Party coalition government introduced health insurance in Australia in 1953 but came under increasing attack. After its election in 1972, the Whitlam Labor government introduced the Health Insurance Act 1973, which has provided a legislative guide for several forms of health insurance programs since then. The first was Medibank—introduced in 1975 just before the Labor Party lost power. The current form is Medicare—introduced in 1984 under the Hawke Labor government (Palmer and Short 2000: 60-64). Medicare is administered by the Health Insurance Commission, a government funded statutory authority (HAFD 2001d), and the amount that the government rebates is set out in the General Medical Services Table (the Medicare Benefits Schedule). In 2000-2001, 213.9 million Medicare claims were processed at a total cost of $7,326.8 million, of which 62.1 million (29 percent) were pathology services costing $1,156.8 million (16 percent) and 1.5 million (0.7 percent) obstetrics services costing $62.5 million (0.09 percent) (HAFD 2002a) The following refundable items illustrate recent costs to Medicare of rebates paid by the government for various prenatal diagnosis services. Therapeutic procedures—obstetric: Item No. 16600—diagnostic amniocentesis ($49.40); Item No 16603—CVS ($94.95). Pathology— cytogenetics: Item No. 73287: chromosome studies of tissue/fluid other than blood ($354); Item No. 73289: chromosome studies of blood ($322). Pathology—chemical: Item No 66740: maternal serum screening test ($54.50); Item No 66743: AFP test in serum or other body fluid during pregnancy ($19.90); Item No 66746: oestriol alone ($31.55); Item No 73527: HCG for pregnancy diagnosis ($9.90); Item 73529: HCG for diagnosis of threatened abortion or ectopic pregnancy ($28.25). The amount in brackets represents a notional, annually adjustable fee that the government determines as ‘reasonable’. The benefit paid, however, is determined as a percentage of that amount, depending on whether the service was done as part of hospital treatment (75%) or other (85%). Individuals with private health insurance may be reimbursed the remaining charges (ie, the ‘patient gap’ between the Medicare rebate and the Schedule fee) (HAFD 2001a). 39 In 1999-2000, government in Australia funded 71.2 percent of the country’s estimated total health services expenditure of $53,657 million (Medicare costs accounted for about 2 percent). Almost half of that funding (48 percent) came from the Federal government (AIHW 2001: 5, 11). This can be compared with the US where the private sector funds less than half of health services (AIHW 1998: 127). Chapter five: regulating access to prenatal diagnosis page 331 medicine (DHFS 2002) .40 The MSAC is a generalist committee of medical experts that currently excludes actors in the social world of genetic prenatal diagnosis (Appendix 8). 41 Nevertheless, it exercises regulatory controls over prenatal diagnosis in its judgements to include procedures and laboratory services as rebatable items under the Medicare scheme.
Laboratory services are a site for medicine and government to regulate access to prenatal diagnosis. Clinical genetics units have close relations with laboratories that provide medical genetics services, and that are usually located on the same hospital site. For example, health professionals in the medical genetics arena recently developed guidelines through the HGSA to govern quality control of cytogenetics laboratories, and the Federal government has accepted them as a national standard.42 Government regulates laboratories through legislative controls such as the Health
Insurance Act 1973 that governs Medicare payments for pathology services, through the shaping of policy by expert advisory committees, and through formal agreements between government and representatives of health professionals working in pathology (HAFD 1999a & 1999b; NPAAC 2001).
40 The Minister claimed: ‘All Australians can now be confident that new medical procedures will be subject to quality assurance standards. … The introduction of evidence based medicine and the committee means that the gap between research knowledge and clinical practice will narrow, and patients will benefit earlier from the most advanced procedures drawing on the best scientific and medical evidence’ (DHFS 2002). 41 The majority of the 22 MSAC members are medical practitioners drawn from a wide range of specialisms. Many have experience working in other government and medical committees and organizations. There are also two consumer representatives. Some members have no identified links with organised groups (see Appendix 8). The government department responsible for the MSAC is the Diagnostics and Technology Branch, which in January 2002 supported four other committees. As three of them were concerned with pathology services, the branch duties are largely focussed on containing Medicare costs for new pathology technologies (see Appendix 7). The MSAC has priority over all other committees within that department, as matters it refers to the Minister are then referred on to the other committees for their consideration (HAFD 2002b). 42 The guidelines were authorised by NPAAC (the National Pathology Accreditation Advisory Council)—see Appendix 6— comprising representatives from each State and Territory government, and from relevant professional associations (HAFD 2001b). Chapter five: regulating access to prenatal diagnosis page 332
Additional complexity arises because funding is shared between the
Federal and State governments, because of State differences in regulating access, and because of professional referrals interstate. For example, in NSW in the mid-1980s about 2,000 women aged 37 years and over had cytogenetic tests after prenatal diagnosis, largely using laboratory services in publicly funded State hospitals. However, another almost 500 women aged between
35 and 37 were tested but, because NSW government policy excluded laboratory resources being used for them, their samples were sent to South
Australia for analysis, where State government policy had set a lower 35 year minimum age with the costs of laboratory testing able to be reimbursed under Medicare (NSW Health 1987: 53).43
As described earlier in this sub-section, justification of public funding for prenatal diagnosis has most often been based on the aim of reducing the incidence of people with Down syndrome and, thus, saving costs to government for their lifetime care. Professionals working in the prenatal diagnosis social world have been deeply involved in preparing such evaluations, such as in a report that argued for increased funding of medical genetics services throughout New South Wales (NSW Health 1987: 26-34).
Using international cost-benefit studies, they concluded that ‘savings vastly
43 In the three clinics observed in this project, there were 5 women who sought genetic counselling for the single reason of ‘maternal anxiety’ (ie, concern about a chromosomal abnormality in the fetus) and another 5 who had additional concerns about other genetic abnormality. The total of 10 represents 20 percent of all observed clinics. As this is lower than the estimated33 percent from laboratory statistics for the State of New South Wales five years earlier, it is possible that the genetic counselling clinics in this study did not represent all women considering prenatal diagnosis such as those who consulted obstetricians in private practice and did not go to a genetic counselling clinic. Chapter five: regulating access to prenatal diagnosis page 333 exceed costs’ for prenatal diagnosis (NSW Health 1987: 26-34, Appendix 3).44
Health professionals in the social world of prenatal diagnosis have offered two aims for an ethics of reproductive choice—production of a normal fetal body and management of maternal rationality. However, the former has usually been the most persuasive for government support of prenatal diagnosis. Referring again by example to the report about genetics services in
New South Wales, there were two aims for genetics services described by the experts:
(a) To reduce the frequency of genetic diseases and of birth defects, whether genetic or not (primary prevention), and to minimise the disability consequent upon them (secondary prevention). (b) To make available to all people, and especially those at increased risk, the information, counselling and other resources necessary for them to be able to make and carry out decisions about their reproductive options which may reduce the likelihood of genetic disease and birth defects in their offspring (NSW Health 1987: 4).
The latter aim constructed an autonomous rational decision-making subject, whose primary aim was the former, based on a public health ‘prevention’ goal of producing a healthy baby without genetic abnormalities. That primary aim was repeatedly used throughout the document, as shown in the following examples:
Genetics services are defined above as embracing all those activities of health professionals which are aimed at preventing the occurrence of genetic diseases and birth defects, or at ameliorating their effects (NSW Health 1987: 21).
44 The experts argued that 30 percent of the additional cost of providing new genetics services they stated were necessary would be able to come from savings in the ‘prevention’ of only three abnormalities: Down syndrome, spina bifida, and cystic fibrosis (NSW Health 1987: 26-34). They also pointed out that costs increased as the maternal age benchmark was reduced as a means for improving the detection rate of Down syndrome in the fetus. It was estimated that it would cost $43,434 to detect 13 fetuses with Down syndrome if screening by maternal age of 35 years or over, compared with a lower cost ($35,543) but also lower detection rate (9) if the limit was raised to a maternal age of 37 years. (NSW Health 1987: Appendix 3). See also footnote 28. Chapter five: regulating access to prenatal diagnosis page 334
Genetics services are largely preventive. They are aimed at reducing the prevalence of genetic disorders and birth defects and the suffering of affected individuals and their families (NSW Health 1987: 26).
It was only in the section on prenatal diagnostic services towards the back of the report that alternatives to the primary aim of prevention were elaborated:
Testing for fetal abnormality in the first 20 weeks of pregnancy is often but not always done with a view to termination of pregnancy if a serious abnormality is diagnosed. It is sometimes done without termination of pregnancy being considered, for relief of anxiety if the result is normal and for making preparations for the care of the baby and the family if it is not (NSW Health 1987: 69).
Finally, government-sanctioned self-regulation by medicine is another mechanism for regulating prenatal diagnosis. For example, at the same time as experts were arguing for increased funding of medical genetics services in
New South Wales, a network of doctors in the social world of prenatal diagnosis established the Prenatal Diagnosis Consultative Panel. This was a coalition of doctors that included specialists in clinical genetics, biochemical genetics, obstetrics, prenatal diagnosis procedures, foetal medicine, public health, thalassemia, and mental retardation. The Panel was authorised by government to regulate access to, and quality control over, prenatal diagnosis
(eg, samples taken with a prenatal diagnosis procedure could only be analysed in a government-funded laboratory if the procedure had been approved by a member of the Panel) (NSW Health 1986). 45
5.2.3 Abortion
Abortion is a key component of the prenatal diagnosis package. Medicine regulates it through medical dominance in its performance and in knowledge
45 During my fieldwork, I was present when discussions were held about the difficulties in governing a small number of doctors who were considered not competent in performing amniocenteses and who resisted professional regulation. Chapter five: regulating access to prenatal diagnosis page 335 claims about pregnancy, abortion and the maternal body (Albury 1999: 8,
115). Government regulates access to abortion by legislative and economic means. Powerful anti-abortion lobby groups have made regulation an erratic process in which access to abortion is under continual threat of withdrawal.
Health professionals in the prenatal diagnosis social world have sought to improve women’s access to abortion services, as this has been the only course of action for preventing the birth of a fetus diagnosed with a chromosomal abnormality.46 In the early to mid-1970s when prenatal diagnosis was new and resources were limited, some sought to limit access to prenatal diagnosis only to those women who would abort a fetus diagnosed with an abnormality
(Fletcher and Wertz 1992a: 743). As one doctor recalled:
It was felt to be pointless to ‘waste’ valuable resources on a patient for whom no change in management would be affected by the results (Evans, Pryde, Evans, and Johnson 1993).
With the introduction of the genetic counsellor professional and the psychosocial model of genetic counselling in the mid-1970s, this attitude gave way to one in which abortion was still a necessary part of the prenatal diagnosis standardised package, but now a choice for the rational individual
(Milunsky 1977: 484-485; Murphy, Chase, and Rodriguez 1978: 362; Davis
1979: 117; Grobstein 1979).
When prenatal diagnosis was first introduced, considerable social change was occurring. Medical power was challenged internally, by other professional groups such as nurses, and externally by feminists, consumer
46 Geneticists have made public declarations promoting the availability of abortion, and sought to intervene politically to ensure legislation was compatible with the gestational age limits of amniocentesis. For example, in the US in 1982, a time of strong anti-abortion political activism, a resolution of the ASHG (American Society of Human Genetics) opposed the proposed Congressional Bill that specified human life ‘to exist from the moment of conception’ (ASHG 1982). Chapter five: regulating access to prenatal diagnosis page 336 groups and others. In the medical genetics arena, sickle cell screening programs came under attack for its discriminatory use against Afro-
Americans (Kenen 1984: 546). The introduction of prenatal diagnosis was supported by a liberalisation of abortion laws, at the same time as there was a declining birth rate47 and an increasing proportion of older women giving birth48 in many Western industrialised nations (Rothman 1988b: 23-26).
Campaigns for reproductive freedoms by the women’s liberation movement influenced governments in many industrialised nations to increase funding for family planning services and to open access to abortion through liberalisation of abortion laws. The Abortion Act was introduced in the UK in
1967, and was a model for some Australian legislation (Albury 1999: 9). In the US, family planning services began to receive Federal funding in 1970,49
Medicaid funding was established in 1972, and abortion became more widely
47 In Australia, the measured fertility rate (the number of children that a woman would be expected to bear) has been declining since 1962. In 1978 it dropped to the lowest level since records had been kept and has continued to decline since then. The fertility rate at the beginning of the 20th century has been estimated as about 4 babies per woman, with declines since then over two long periods. During the second decline (beginning in 1961) the measured rate has been below the level of 2.1 (the rate for a woman to replace herself and her partner that the government uses as a norm for population equilibrium) since 1977. The most recently collected statistics show that in 2000 the fertility rate was 1.75 babies per woman, lower than the US (1.9), about equal to the UK and the People’s Republic of China, and higher than Canada (1.6), Japan (1.3) and many European countries such as Italy and Greece (1.2). Australia’s fertility rate is well below the world average of 2.7, and has been ranked in about the middle of other so-called developed nations. The measured fertility rate for Indigenous women in Australia is generally higher than for non-Indigenous women (in 2000 it was 2.2 babies per woman) with regional variations (the highest fertility rate was measured in the Northern Territory at 2.8) (ABS 1999, 2001a & 2001b). 48 For example, in Australia the number of registered births to women aged 30 years and over has almost doubled in about twenty years—from 24 percent in 1979 to 47 percent in 1999—and by 1999 they had overtaken those in the 25-29 age bracket in having the highest fertility rate (ABS 2000). The proportion of births to women aged 35 years and over increased from 7 per cent of all births in 1982 to just over 13 per cent in 1995, with one in 14 women (7 per cent) having their first baby at 35 years or older compared with the average age for first birth of 26.5 years (Day, Lancaster, and Huang 1997: 1-7). However, the patterns of age-related births vary amongst different sub-populations. For example, survey have found that Indigenous women comprise only about 1 per cent of births for women aged 35 and over compared with over 10 per cent of births for women less than 20 years of age (Plunkett, Lancaster, and Huang 1996: 37). 49 The government legislation that enabled funding of family planning services was the Family Planning Services and Population Research Act and Title X of the Public Health Service Act ( NCCDPHP 2000: 326). Chapter five: regulating access to prenatal diagnosis page 337 available after the Roe v Wade decision in 1973 (although the Casey decision in 1992 upheld the right of each State to favour childbirth over abortion services) (Petchesky 1990: 289-295; Charo 1993a: 585; NCCDPHP 2000:
326). In Australia, the Menhennit and Levine rulings in 1969 and 1971 increased access to abortion services, and the recent Davenport Bill in
Western Australia introduced the most liberal law in any Australian State to date (Siedlecky 1990: 65, 80; Davenport 1998).
The social unrest of the 1960s and 1970s articulated tensions in the powers of government. In the US, for example, a value system that emphasises individualism and self-reliance also has supported conservative political and Christian values (Albury 1999: 60). Thus, the left/centre
Democrat government of Carter, who espoused conservative religious values, and the conservative Reagan Republican government were able to exploit the tensions of abortion politics and win election in the late 1970s and early
1980s (Petchesky 1990: 242; Wertz and Gregg 2000). The earlier liberalisation of laws was then discontinued, revoked or contradicted by new legislation or new interpretations of existing laws. This resulted in widespread inconsistencies between State and Federal jurisdictions. For example, although Medicaid pays for women on low incomes to have amniocentesis in all US States, it prohibits Federal payments for abortion
(Wertz and Gregg 2000). In 1988 only thirteen States allowed Medicaid payments for an abortion after genetic prenatal diagnosis (Weiner and
Bernhardt 1990: 717). More recently, a highly restrictive law, sponsored by right to life legislators, was passed in Missouri that specifically banned second trimester abortions such as after amniocentesis (Charatan 1999).
Individual litigation over wrongful birth and wrongful life is an additional Chapter five: regulating access to prenatal diagnosis page 338 route for (mainly wealthier) women to gain access to genetic testing and abortion services—a route with the potential to produce tensions within government institutions (Clayton 1993).
In Australia, a more secular moral discourse has been dominant but political actors with conservative Christian values have played a part, especially when an elected government has not held a clear majority (Albury
1999: 58-60). Whilst abortion has become widely available in Australia, it is regulated inconsistently and has not been by legislative decriminalisation.
Abortion is governed economically by a centralised Federal government at a national level but legislatively by each State. Only about 2 percent of abortions in Australia are for possible fetal abnormality, although this figure has been increasing (NHMRC 1996: 44). About 20 percent of these abortions have been for Down syndrome diagnosed in the fetus (Lancaster, Hurst, Day,
Huang, and Shafir 1997: 28).50
5.3 Maternal serum screening
(The triple screen) is a test that looks at three different hormones. It’s done at a precise time of pregnancy. … Now, what they do is they look at the relative levels of those three hormones against a whole lot of normal pregnancies with the levels of those three hormones. They put in a factor for your age. And they come out with a risk of having a baby with Down syndrome, which is higher or lower than your absolute risk related to age. So they change it from, say, being a one in two hundred person to a one in four hundred person. This test is probably best for people who are younger, where they still have babies with Down syndrome but there are probably more of them, but it’s less likely for each individual person. It picks up about 60 percent of Down syndrome
50 The most common reason for such termination after prenatal diagnosis was a fetus diagnosed with Down syndrome (153 of a total of 718 terminations in 1994) (Lancaster et al. 1997: 6, 28). Abortion data has alternatively been reported with respect to the birth rate. A rate of 1 notified termination for every 360 births was recorded in 1994—almost double the rate in 1991 of about 1 in 600. The increase was attributed both to improved data collection and to an increased rate of termination itself (Plunkett et al. 1996: 6). Chapter five: regulating access to prenatal diagnosis page 339
babies. But it will miss about 40 percent. So it’s a test that’s fine if you’re young, but some people who are older would like to be a little more certain. (Female medical geneticist in training providing genetic counselling to a 36-year old woman who is 6 weeks pregnant with her second child.) 51
5.3.1 Introduction
At the time fieldwork was being done for this project the triple screen was a controversial new screening test for regulating access to prenatal diagnosis.
The above description, given in an observed clinic, explains how it is constructed as an alternative to screening by maternal age alone. Like maternal age, the triple screen and other maternal serum screening tests are a regulatory tool with less diagnostic certainty than amniocentesis or CVS
(see Chapter four). However, maternal serum screening tests construct a complex biochemical body that has been used to claim that the triple screen has higher diagnostic certainty than maternal age alone. Maternal serum screening tests also promise access to prenatal diagnosis for a different and larger population of pregnant women considered to be at high risk.
The first maternal serum screening test was developed in the UK in the
1970s, but was not used to detect chromosomal abnormalities in the fetus.
Rather, it measured levels of MSAFP (maternal serum alphafetoprotein) to screen for neural tube abnormalities, which were perceived to be a serious public health danger in that country. However, in 1984 claims were made that the MSAFP test could be used to screen for Down syndrome. In 1988, the triple screen was claimed to be a progressive improvement, due to greater diagnostic certainty by combining MSAFP with two additional biochemical markers—human chorionic gonadotrophin (hCG) and unconjugated estriol
51 U39W/M-C33; C33: 914-935 Chapter five: regulating access to prenatal diagnosis page 340
(uE3). One of its inventors claimed that triple screen could more than double the rate of detection of Down syndrome in the fetus (from 30 to about 75 percent) at the same ‘false positive’ rate of 5 percent (Haddow 1998). 52
However, this still fell short of public health ideals of a good screening test. 53
Further improvements have been sought since then in different combinations of biochemical markers and with ultrasound. In this section, I describe the invention and diffusion of maternal serum screening tests, and the ways in which controversies surrounding this new regulatory tool in the prenatal diagnosis package have articulated tensions within an ethics of reproductive choice.
5.3.2 AFP screening for neural tube abnormalities
At the time that fieldwork was done for this project, MSAFP screening was a routine blood test in Western obstetric medicine that screened for spina bifida and other neural tube abnormalities in the fetus (Royal College of
Physicians of London 1989: 14; Canick and Devereux 1993).54 The trajectory of MSAFP’s career as a screening tool since its invention in the early 1970s has been one of increasing use in the UK, but of controversies that slowed its diffusion elsewhere.
In the UK, claims linking abnormalities in AFP levels to fetal abnormalities were first made in 1972, when it was reported that raised AFP levels in amniotic fluid were associated with neural tube abnormalities, such
52 A ‘positive’ result with maternal serum screening indicates a high risk for a fetal abnormality, in contrast to more usual discourse about health and illness where a fetal abnormality is a negative outcome. 53 For example, see early public health standards set for general health screening by the WHO (Wilson and Jungner 1968), and early and more recent standards discussed in the UK (Cochrane and Holland 1971; Health UK National Screening Committee 1998a), and the US (Kazazian 1978; US Preventive Services Task Force 1996). 54 In the clinics in this project, AFP was also tested routinely in amniotic samples. Chapter five: regulating access to prenatal diagnosis page 341 as spina bifida and anencephaly, in the fetus (Brock and Sutcliffe 1972).55 The next year these claims were extended to its occurrence in maternal serum
(MSAFP), and population-wide maternal serum screening was suggested
(Brock, Bolton, and Monaghan 1973). By the late 1970s a large collaborative study on screening for neural tube abnormalities in the UK reported that AFP testing of both maternal serum and amniotic fluid was a successful screening tool for neural tube abnormalities in the fetus (UK Collaborative Study on
Alpha-fetoprotein in Relation to Neural-tube Defects 1977 & 1979). It concluded that MSAFP screening was an ‘effective method’ from a public health perspective, able to detect 88 percent of anencephaly and 79 percent of open spina bifida in the fetus at 16-18 weeks gestation, and with 3 percent
‘false positives’ (UK Collaborative Study 1977). Nevertheless, other experts expressed uncertainty about the claim, and that ‘many questions remained to be answered about whether a national programme should be introduced’ to move the study ‘from research to development’ (‘Screening for Neural-Tube
Defects’ 1977). The UK researchers who had so enthusiastically reported their research findings included Nicholas Wald (a doctor with scientific training in public health, specialising in environmental and preventive medicine) and
Howard Cuckle (a scientist trained in public health, specialising in reproductive epidemiology). Wald (with others) had first published on
55 AFP was first described in fetal serum in 1956, the same year that genetic amniocentesis was first proposed (Merkatz et al. 1984: 892). Chapter five: regulating access to prenatal diagnosis page 342
MSAFP in 1974 (Wald, Brock, and Bonnar 1974),56 and two years later began publishing with Cuckle (Wald and Cuckle 1976).57 Later in the 1980s they were to become central characters in controversies over the triple screen for diagnosing Down syndrome in the fetus (Cuckle, Wald, and Lindenbaum
1984).
By the early 1980s, MSAFP screening for neural tube abnormalities was established in many areas in the UK.58 However, there had been some reports in the medical press there of concerns about the emotional costs for large numbers of women given ‘false positive’ or ‘false negative’ results and the lack of adequate resources for women to make decisions (‘Screening for Neural-
Tube Defects’ 1977; Farrant 1980). These concerns problematised the government of maternal rationality, in contrast to governing fetal abnormality, and became effective barriers to the diffusion of this screening test. For example, in the US professional groups joined with some genetic
56 From Wald et al (1974) it can be seen that Wald was collaborating across diverse social worlds. The paper’s public health aim of detecting and eliminating fetal abnormality was supported by government and concerned families (his research was funded by the Department of Health and Social Security and the Association for Spina Bifida and Hydrocephalus). It was also supported by the prestige and public health model of one of his co-authors who working at Oxford University in the Cancer Epidemiology and Clinical Trails Unit. His other co-author was a geneticist, with both scientific and medical training, who later became an expert in prenatal diagnosis and screening (Brock et al 1992). 57 Their audience was largely the UK medical community, through journals such as The Lancet, British Medical Journal, British Journal of Obstetrics & Gynaecology and Prenatal Diagnosis. Together they reported on a range of maternal factors they claimed affected risk calculations (eg, maternal weight, multiple pregnancies, birth weights, diabetes, serum copper concentrations) and on other biochemical factors in maternal serum whose measurement could possibly improve that screening test (eg, acetylcholinesterase) (Wald and Hambidge 1977; Smith et al. 1979; Wald et al. 1979a; Wald, Cuckle, Boreham et al 1979b; Wald, Cuckle, Boreham, and Turnbull 1980). 58 MSAFP screening programs had been established in about one-third of the health areas in England and Wales by 1977 (Wald, Cuckle, and Harwood 1979). Claims also had been made that it could be used for screening for other fetal abnormalities, such as multiple births, fetal death, and congenital abnormalities (President’s Commission 1983: 28). Chapter five: regulating access to prenatal diagnosis page 343 support groups, State regulatory groups and others to delay its marketing.59
Moreover, the perceived need was seen to be less in the US. Claims that the incidence of neural tube abnormalities in the US was less than half the rate found in the US weakened the ethical aim of detecting fetal abnormality
(President’s Commission 1983: 28-29). These barriers were articulated in negotiations over standardising the method.60 As well, the amount of resources needed for surveillance and regulation of resources and outcomes were an issue (Wald, Cuckle, Catz, Dayton, and Reimer 1981). For example, in 1979 an international workshop on prenatal diagnosis in Canada61 recommended that MSAFP programs should be established but only in consultation with other actors in the prenatal diagnosis social world, to ensure women and health professionals could access adequate counselling and education resources (Ferguson-Smith 1980; Hamerton and Simpson
1980). Another workshop held in the same year in the US at the annual meeting of the ASHG (Hamerton 1980), and editorials in two US-based obstetrics journals all concluded that large-scale MSAFP screening could not be recommended (Nadler and Simpson 1979a & 1979b). The editorials expressed ethical concerns about its emotional costs: ‘substantial unnecessary parental anxiety’ would be generated by the large number of
59 Health professional groups who opposed marketing of AFP test kits in the US included the American College of Obstetrics and Gynecology, American Academy of Pediatrics, American Society of Human Genetics, Spina Bifida Association of America, Health Research Group, Centers for Disease Control, Health Services Administration, and National Center for Health Care Technology (President’s Commission 1983: 29-30). 60 For example, at a government-sponsored workshop in 1978, agreement was not reached on a number of criteria, including standards for the unit of measurement of AFP and normalised values for local populations. The ironic acronym MoM—a statistical estimate of the ‘multiple of the median’—is commonly used (Cuckle et al. 1987: 388, 397). Even more ironically, the new concept of DADs has challenged MoMs as the best measure ( New England Regional Genetics Group Prenatal Collaborative Study of Down Syndrome Screening 1989: 577; Macri, Kasturi, Krantz, Cook, and Larsen 1990; Bishop, Dunstan, Nix, Reynolds, and Swift 1993). 61 This was the first international conference on prenatal diagnosis, building on three European conferences held previously in 1975, 1976 and 1978 (Ferguson-Smith 1980). Chapter five: regulating access to prenatal diagnosis page 344 false positive results from testing the whole population of pregnant women
(Nadler and Simpson 1979b: 334). As a result, the FDA took three years before it gave marketing approval of AFP test kits in 1983 (Steinbrook 1986:
5).62
5.3.3 AFP screening for Down syndrome (1984-1987)
In 1984 claims were published that AFP screening could be used to detect chromosomal abnormalities in the fetus (Merkatz et al. 1984).63 The US researchers reported that, just as raised MSAFP levels were linked with neural tube and other abnormalities in the fetus, reduced MSAFP levels could be linked with chromosomal abnormalities in the fetus.64 They argued that
MSAFP screening for Down syndrome should therefore be considered for all pregnant women (Merkatz et al. 1984). Thus, for the researchers MSAFP screening was better than maternal age screening because of its better ability to govern the abnormal fetal body. For them, Down syndrome was a
‘pathological condition’ and MSAFP screening could do ‘a much better job of reducing the incidence of these very serious genetic problems for many families’ (Merkatz et al. 1984: 893). Although there were uncertainties in
62 The FDA classified the MSAFP serum screen for neural tube abnormalities as a Class III medical device, regulated by the Federal Food, Drug, and Cosmetic Act (FFDCA) of 1938 and the Medical Device Amendments (MDA) of 1976 and Safe Medical Devices Act (SMDS) of 1990. Class III devices include those ‘for a use which is of substantial importance in preventing impairment of human health’ and require data on safety and efficacy before premarketing approval can be given, as well as postmarket surveillance (Charo 1993b: 577). Before FDA approval, supplies of testing reagents were found by other means. For example, manufacturers provided some free of charge, some laboratories made reagents themselves, or they were obtained from suppliers outside the US (President’s Commission 1983: 29-30). 63 1984 was also the year that George Orwell chose to set his novel by the same name (Orwell 1984), providing a ‘monster’ story about the eugenic excesses of governing populations with the technological replacement of the maternal body. 64 The researchers acknowledged an unnamed 28-year old woman who had instigated their enquiries, after she was denied access to amniocentesis because of her age and later gave birth to a baby with trisomy 18. Her repeated attempts to draw her doctors’ attention to some very low MSAFP values after routine screening in her pregnancy had provided the impetus for them to initiate a large-scale retrospective study of stored serum (Merkatz et al. 1984: 886). Chapter five: regulating access to prenatal diagnosis page 345 interpreting the results of MSAFP screening,65 they argued that MSAFP screening for Down syndrome was warranted (in contrast to MSAFP screening for neural tube abnormalities in the US) because Down syndrome was the ‘leading definable cause of mental retardation’ (Merkatz et al. 1984:
890). Guided by a public health aim of reducing the numbers of bodies with
Down syndrome, the authors did not discuss the aim of reducing the emotional costs to women of anxiety from the high ‘false positive’ rate and the possibility of later procedure-related fetal losses, and they assumed that abortion was an unproblematic choice.
Also in 1984 Cuckle and Wald published a retrospective study done in response to the US research. Using data collected from neural tube screening programs in the UK, they went further than the US researchers by combining
MSAFP with maternal age to construct a revised risk table for Down syndrome in the fetus. They claimed that their MSAFP screening test was as effective as maternal age screening and, if both were used together, could double the detection of Down syndrome in the fetus, although also doubling the false positive rate (Cuckle et al. 1984: 928-929). 66 For a comparative benchmark they used a maternal age of 37 years, for which amniocentesis could detect 23 percent of all pregnancies where the fetus had Down syndrome, with a false positive rate of 3.1 percent (Cuckle et al. 1984: 929).
65 Of major concern were the high ‘false positive’ results. In the discussion following presentation of the paper at a conference, it was pointed out that the reported sensitivity and specificity of MSAFP screening were about equivalent to maternal age screening, and thus not a sufficient improvement to replace it (Quilligan in Merkatz et al. 1984: 891-892). 66 Their study was retrospective, as was that by Merkatz et al, but their number of cases was greater by a factor of ten, because they were able to access maternal serum collected for existing NTD screening programs (Cuckle et al. 1984; Merkatz et al. 1984). It should be noted that, whilst they thanked various health professionals for providing information valuable to their research (eg from medical records in a department of medical genetics and in two hospitals, voluntary reports made to the national birth defects register, the Down syndrome service at a hospital, and a disabilities register), they made no mention of obtaining approval from an ethics committee to do this (Cuckle et al. 1984; Merkatz et al. 1984). Chapter five: regulating access to prenatal diagnosis page 346
The immediate response to their paper was largely favourable ( Fuhrmann,
Wendt, and Weitzel 1984; Guibaud et al. 1984; Seller 1984; Tabor, Nørgaard-
Pedersen, and Jacobsen 1984).67
They soon argued, however, that MSAFP screening for chromosomal abnormalities was more effective than maternal age screening. Prioritising an aim of regulating the numbers of bodies with Down syndrome, they used cost-effectiveness arguments to describe savings on the cost of laboratory cytogenetic testing (Cuckle, Wald, Lindenbaum, and Jonasson 1985) and the economically rational policy of being able to ‘obtain the maximum return for a given expenditure’ (Cuckle and Wald 1986: 290). Whilst they suggested that counselling services be provided to individual women, this was only as a means to achieve their aim of economic rationality. To this end, they prepared tables linking maternal serum AFP levels to risk estimates for Down syndrome for use in counselling, just as had been done for maternal age alone
(see Figure 5, Chapter two). Also following the historical precedent set by maternal age-related risk tables, they suggested that their estimates be used to formulate screening policies and regulate services with the object of
‘prevention of affected births,’ which would be ‘more efficient than using maternal age alone’ (Cuckle, Wald, and Thompson 1987: 392, 398). They suggested that older women, who ‘may feel that they are being denied
(amniocentesis)’ because maternal serum screening gave them a reduced risk by maternal serum screening, could be treated ‘in a flexible and compassionate way’ (perhaps just as women aged 35 and 36 have been allowed to access prenatal diagnosis because of ‘maternal anxiety’ despite a
67 However, one expert questioned the claim itself (Cowchock and Ruch 1984), and one raised the familiar concerns about the lack of resources and the emotional costs for women who were tested (Seller 1984). Chapter five: regulating access to prenatal diagnosis page 347 maternal age benchmark for access of 37 years). They concluded that the
‘problem’ would disappear because ‘expectations will change’ as ‘the new policy becomes established’ (Cuckle et al. 1987: 398). By prioritising the fetal body as the part of the self to be governed, they minimised the potential for harm from allowing a different population of pregnant women access to prenatal diagnosis. Their claims met with some support, including its use earlier in pregnancy.68 However, its perceived inability to improve on the existing maternal age screening test led to a search for other biochemical indicators,69 and this is described in the next sub-section.
It should be noted that by the late 1980s there was gathering support for
MSAFP screening for neural tube abnormalities in the fetus, and that this had repercussions for using maternal serum screening for chromosomal abnormality to regulate access to prenatal diagnosis. The implementation of the former enabled the latter to enter clinical practice (Press and Browner
1995: S9), as well as providing evidence for evaluating the latter’s potential problems and benefits. Disciplinary divisions in support continued, however, both within the medical genetics profession and between them and obstetricians. These were exemplified in a policy statement made in 1987 by the ASHG, which focused on technical difficulties in quality control of laboratories. The ASHG particularly warned that test kits for screening for
68 Italian researchers who had been instrumental in developing CVS technology published preliminary evidence in 1986 that MSAFP could be a good indicator for testing for chromosomal abnormalities in the fetus during the first trimester (Brambati, Simoni, Bonacchi, and Piceni 1986). 69 For example, levels of maternal serum hCG (human chorionic gonadotropin) was claimed to be either raised or reduced in the second semester when the fetus had a chromosomal abnormality, and to be more a more effective indicator as it enabled detection of between about 55 to 76 percent of abnormal fetuses, with a false positive rate of between about 1 and 4 percent. (Bogart, Pandian, and Jones 1987) A third component of maternal blood was claimed to be an effective screening indicator by Wald and Cuckle in partnership with other researchers in both the UK and the US (Canick et al. 1988; Wald, Cuckle, Densem et al. 1988a). Chapter five: regulating access to prenatal diagnosis page 348 neural tube abnormalities may not be suitable for screening for Down syndrome, a use which they claimed was still at an ‘investigational’ level.
Nevertheless, they concluded by conceding to the obstetricians:
Despite its imperfections, the need for an elaborate societal structure to apply it, and its value-laden context, the test is considered by many as a necessary procedure to maintain normal standards of practice. Indeed, the American College of Obstetricians and Gynecologists (ACOG) issued a statement advising its Fellows to be aware of the availability of MSAFP testing and to discuss such testing with patients (ASHG 1987).
Despite it being in conflict with their policy that did not endorse the MSAFP test, the American College of Obstetricians and Gynecologists (ACOG) had advised its members to inform their patients about the test, as a legal defence against future malpractice litigation for missed diagnosis of a neural tube abnormality (Steinbrook 1986).70
A clear example of the potential problems and solutions of maternal serum screening is found in the Californian MSAFP screening program.
Initiated in 1986, it was the first state-wide MSAFP screening program in the
US, a ‘model’ program which largely targeted neural tube abnormalities. A small fee ($40), which was refundable under many health insurance schemes, was designed to facilitate access.71 Screening was on a ‘voluntary’ basis and achieved an overall participation rate of about 85 percent of all pregnant women.72 Medicine and government tightly controlled the designated laboratories that performed the tests, the staff and resources that
70 However, some members of that social world continued to express other concerns about the anxiety caused for women who received a false positive result (Evans, Bottoms, and Carlucci 1988: 680). 71 A total cost for each of the individual tests required was estimated at about $1,000 for a woman with a positive result who had follow up ultrasound and amniocentesis (Steinbrook 1986: 6). 72 All women were legally required to be offered the screening test as part of routine prenatal care (Press and Browner 1994). Chapter five: regulating access to prenatal diagnosis page 349 provided coordination, genetic counselling and other information, and medical services at designated centres, and the computerised databases using standardised values for test results.73 However, obstetrics, rather than medical genetics, professionals implemented the program and a later evaluation was critical of many of their practices. The health professional
(usually a nurse) spent about two minutes counselling pregnant women about the MSAFP screen at their first prenatal visit that lasted for a total of 15 to 30 minutes. They avoided discussing potential problems, such as the possibility of detecting a fetal abnormality and decision-making about abortion, perceiving the technology as valuable only for reassuring women about the health of the fetus (Press and Browner 1994).74 They thus avoided openly identifying ethical concerns about maternal emotions and, hence, rationality as a part of the self to be governed in reproductive choice. As discussed in Chapter four, doctors and other health professionals in the obstetrics clinic appeared to favour legally defending themselves over communicating with, and educating, the patient (Press and Browner 1995).75
The new actors in early MSAFP screening programs thus positioned the test as one of many routine blood tests in early pregnancy. In contrast, in observed genetic counselling clinics in this study, blood tests were rarely done and MSAFP screening was problematised, with the health professional
73 There was a range of assay methods, computer programs, algorithms and risk estimate technologies available and many in the early days had been developed by Wald and Cuckle, who served to gain professionally and financially ( Cuckle et al. 1987; Cuckle, Densem, and Wald 1989; Norgaard-Pedersen, Larsen, Arends, Svenstrup, and Tabor 1990; Haddow et al. 1992; Wald et al. 1992b). 74 The account by Press and Brownlow (1994) was written by experts in anthropology and psychiatry and, thus, their critique of inadequate counselling services would derive more from professional assumptions by those working in the ‘psy’ sciences rather than genetic counselling. 75 It should be noted that an Australian report has stated that in Canada and the US genetic counsellors were employed to coordinate some triple screening programs (Rae 1994). Chapter five: regulating access to prenatal diagnosis page 350 spending a considerable time explaining it (see Chapter four, sub-section
4.1.2). In obstetric clinics, health professionals spent only a few minutes counselling women about the MSAFP screening test in a consultation that took about 15 to 30 minutes. In contrast, genetic counselling usually takes twice as long. Information about MSAFP screening largely comprised descriptions of the technology and how to access it, tending to exclude descriptions of fetal abnormalities and any mention of abortion. In contrast, genetic counselling includes in-depth discussion of dangers to the fetus, emotional risks to the pregnant woman and significant others, and of abortion procedures that may be involved. Such differences became more contentious with the invention of the triple screen—a maternal serum screening test for chromosomal abnormality in the fetus that has strongly challenged maternal age for regulating access to prenatal diagnosis.
5.3.4 Invention and diffusion of the triple screen (1988-1992)
By 1988 Cuckle and Wald in the UK had formed a cross-Atlantic partnership with colleagues in the US to announce the invention of the triple screen.
Using samples collected and previously tested in the UK between 1973 and
1983, they theorised that testing for the additional biochemical components in the ‘triple screen’ could improve the detection rate of Down syndrome to about 60 percent of all affected fetuses, with a 5 percent false positive rate
(Wald et al. 1988b). They provided a range of benchmark maternal ages for selecting an appropriate cut-off risk estimate produced by the triple screen.
However, as for their previous claims about MSAFP screening for Down syndrome, they again selected a maternal age of 37 years as the benchmark to establish a cut-off level of 1:250, below which a fetal abnormality was indicated (Wald et al. 1998b: 886). In contrast to their earlier views that both Chapter five: regulating access to prenatal diagnosis page 351 maternal age and maternal serum screening should be used together (Cuckle et al. 1984) (Cuckle et al. 1987), they now advocated maternal serum screening alone (Wald et al. 1988b: 886), and for centralised regulation of all health screening at a national level (Cuckle 1990: 890). In the US the following year, experts in the medical genetics arena continued to express resistance to MSAFP screening for chromosomal abnormality. An update of
ASHG policy recommended that if MSAFP screening was used, it should be with maternal age to ensure greater accuracy. Nevertheless, it also expressed concerns about technical uncertainties in the accuracy of existing test kits, which were not designed to measure low MSAFP levels, and that more appropriate ones were not being submitted to the FDA for marketing approval. It made no mention of the new triple screen test (Garver 1989).
In 1992 the UK and US teams published separate prospective studies on the triple screen to strengthen the claim that it was a superior screening test
(Haddow et al. 1992; Wald et al. 1992a). 76 The US team’s detection rate of 58 percent with a false positive rate of 3.7 percent (Haddow et al. 1992: 590-
592)77 was close to the 60 percent value predicted earlier (Wald et al. 1988b).
The UK study found a detection rate of 48 percent with a false positive rate of
76 One of the two authors in the US team (Haddow) had previously worked with Wald and Cuckle on MSAFP screening for neural tube abnormalities (Milunsky et al. 1980; Wald, Cuckle, and Haddow 1980), and both did later collaborative work with them also (Wald et al. 1988b; Wald, Cuckle, Sneddon, Haddow, and Palomaki 1989; Haddow et al. 1990; Wald, Hackshaw, Haddow, Palomaki, and Knight 1993; Wald et al. 1995; Wald, Watt, Haddow, and Knight 1998). Interestingly, the UK team used the risk for the existing minimum maternal age limit as a standard for a normalised cut-off point generated by the triple screen to regulate access to prenatal diagnosis. 77 Moreover, the US researchers found that younger women overall were more likely to have an amniocentesis whilst older women had the lowest uptake rate. After a high risk result of more than 1:50, amniocentesis was agreed to by 88 percent of women aged less than 25 years, 93 percent of women aged 25-29, 88 percent of women aged 30-34 and 74 percent of women aged 35 years and over. After any risk result of 1:190 or higher, 80 percent of women aged up to 29 and 86 percent of women aged 30-34 years would have amniocentesis, compared with only 59 percent of women aged 35 years or more (Haddow et al. 1992: 590). The greater reluctance of older women to have amniocentesis after a high-risk result may have been due to older women participating in the study being already hesitant to have it. Chapter five: regulating access to prenatal diagnosis page 352 about 4 percent, and claimed it would have been closer to the predicted value if dating ultrasound had been used (Wald et al. 1992a: 393). In the US, medicine’s immediate response was favourable. Respected US obstetricians supported the triple test at national and international conferences (Phillips,
Elias, Simpson, and et al 1991) and in the medical literature (Milunsky 1992b;
Phillips et al. 1992). However, it was also at this time that participants at a multidisciplinary workshop cautioned against ‘eugenic’ aims of prenatal diagnosis. The workshop’s widely publicised statement (NIH 1992; NIH
1993; Rothenberg and Thomson 1994) called for new evaluative methods that prioritised individual over social aims.78 The evaluations of the triple screen by the UK and US teams used such ‘eugenic’ aims, and were therefore vulnerable to such criticisms. Furthermore, in the US there were considerable political and economic barriers to accessing prenatal diagnosis due to the government’s anti-abortion position, and to corporate reluctance to market maternal serum screening kits for detecting Down syndrome because of the high costs of seeking government approval (Milunsky 1992b: 587).
The immediate response in the UK was largely favourable in the public media (Wishart 1992) but sharply divided in the medical literature. Only one immediate response in the journal that published the UK study was positive, describing how a cost-benefit analysis had convinced a government authority to fund the triple screen because, despite the additional costs, it promised savings compared with screening by advanced maternal age (Bhatti and
Mackie 1992). The overwhelmingly critical response in the UK medical press
78 Doctors were a significant minority in the workshop participants, which also comprised actors from a range of intersecting social worlds, such as genetic counsellors, legal and social researchers, and others mentioned in this analysis, such as Asch, Beck Black, Holtzmann, Lippman, Rothman, Rapp, Schwartz Cowan, and Wertz (NIH 1992). Chapter five: regulating access to prenatal diagnosis page 353 mainly focused on how the triple screen did not meet commonly accepted public health standards for diagnostic accuracy. A smaller number of criticisms were of its potential to increase women’s anxiety and of the lack of resources for women’s decision-making.79 In other words, most critics prioritised the abnormal fetus as the part of the body to be governed by the screening test, although there were some who were more concerned about maternal rationality. The latter concerns were supported by the study’s report, which described how a large number (12,603) of women had been recruited and only one person employed ‘to administer the screening service and provide individual counselling to patients as needed’ (Wald et al. 1992a:
392). There was clearly little opportunity for women to receive the same level of support before the blood test as is usually given in genetic counselling.
The controversy in the UK continued the following year. A Scottish geneticist gave his qualified support to government funding of the triple screen, with the aim of improving equity of access and the coordination of
79 For example, eleven of the twelve immediate responses in the journal that published the UK study were critical. Most respondents worked in public health or other State regulatory health authorities which prioritised social goals of health prevention, and many claimed that the detection rate was too low and no improvement on the use of advanced maternal age ( Wilson and Jungner 1968; Cochrane and Holland 1971; Allman, Danielian, and Steer 1992; Clift 1992; Gutteridge 1992; Macri and Clark 1992). Two criticised the lack of counselling resources. As one quarter of women with a positive screen result did not follow up with an amniocentesis, anxiety would have been a likely problem for them for the rest of the pregnancy, and had not been factored into the cost-benefit calculations (Bingham and Old 1992). Another criticised using a pamphlet in place of counselling services (Williams 1992). Soon after, three workers in a Health Authority which had participated in the demonstration project stated that the government should not fund the triple test as a high priority. They pointed to the problem of informing non-English speaking women. In their district 50 percent of babies were born to Bangladeshi women and only 10 to 30 per cent of NESB women had even known they had been tested (Parsons, Richards, and Garlick 1992). Others criticised the cost-benefit model used in the UK study. And others expressed concerns about the silencing of critics in a public forum. Canick et al (1988) criticised cost-benefit arguments because they did not sufficiently consider the emotional effects on women, assumed women would abort an abnormal fetus, and ignored benefits from screening by maternal age alone—older women had already been educated about their increased risk, and the smaller number of women meant that fewer amniocenteses were done and, therefore, there were fewer procedure-related losses after amniocentesis. Chapter five: regulating access to prenatal diagnosis page 354 counselling and other necessary services (Connor 1993).80 Again, there were immediate criticisms, including the lack of counselling services (Phillips
1993). Wald and a colleague responded soon after that ‘(t)oo much information can be as unsatisfactory as too little,’ and detailed information should only be given after a woman received a positive result from serum screening and before prenatal diagnosis testing (Wald and Law 1992). They thus equated the triple screen with the maternal age screening test, without acknowledging the additional uncertainties of the triple screen in translating a biochemical maternal body into a genetically determined one.
In 1993 the UK research team began to publish separately when Wald’s department joined with others to form a new research group,81 and Cuckle moved to a different university.82 However, both continued to reap economic rewards from their earlier collaboration with respect to patenting prenatal screening test kits to detect Down’s syndrome (Canick, Wald, Haddow, and
Cuckle 1996 & 1997),83 and professional rewards in their continuing leading
80 To support his argument, the geneticist drew on Wald’s survey in 1991 that found about 70 percent of health regulatory authorities already had decided to provide some sort of maternal serum screening service compared with 50 percent using maternal age screening alone (Wald, Wald, and Smith 1992). 81 In 1991 Wald’s Department of Environmental and Preventive Medicine joined with other groups at the University of London to form the Wolfson Institute of Preventive Medicine (‘Wolfson Institute of Preventive Medicine’ 2002). 82 Cuckle moved to the Institute of Epidemiology and Health Services Research at Leeds University, where he began publishing on alternative maternal serum screening test indicators (Cuckle and Lilford 1992; Cuckle et al. 1992). After he had relocated to Leeds, Cuckle announced the commercial release of an improved ‘triple plus’ test (that measured a fourth biochemical indicator) developed at his new workplace. However, its high cost (almost double that of the triple screen and about thirty times the cost of a cervical smear screening test), and a lack of sufficient ‘good evidence to convince government and policy makers’ (Webb 1991) made it unlikely he would be able to quickly sell his innovation to government. 83 The company assigned these patents was 3i Research Exploitation Limited, a wholly owned subsidiary of the Imperial College of Science, Technology and Medicine in London, dedicated to commercialisation of such inventions (ICSTM 1996). Imperial College and St Bartholomew’s, where Wald is employed, both are member colleges of the University of London (University of London 2002). Imperial College has been very successful in the commercialisation of research, currently earning the highest research income of any UK university (valued at 117 million pounds) (London Biotechnology Network 2000). Chapter five: regulating access to prenatal diagnosis page 355 position within the social world of maternal serum screening.84 Cost-benefit evaluations have been important to them both in supporting their claims about maternal serum screening for chromosomal abnormalities in the fetus since their first paper in 1984. Their arguments have depended on
‘prevention’ being the aim and the assumption that a fetus diagnosed with
Down syndrome would be aborted. They had first described MSAFP screening’s cost-effectiveness in terms of how the extra costs for resources required to screen for Down syndrome would be offset by ‘reduced costs of special care for children with Down syndrome’ (Cuckle et al. 1984: 929). They further argued in 1985 and 1986 that screening of AFP in amniotic fluid samples could be used to reduce the cost of cytogenetic laboratory services, in that cytogenetic testing might only be done on those samples with a reduced
AFP (Cuckle and Wald 1986: 290). They thus aligned their arguments with the aims of government to reduce costs and maximise population regulation.
In 1988 they concluded their seminal paper on the triple test by again appealing to government’s financial interests, describing how it would be cost effective because many of the resources had already been established (Wald et al. 1988b: 886). In 1992, Wald and Cuckle described the results of their
‘demonstration’ project of the triple test as further evidence for its cost effectiveness and concluded that the NHS should make the triple test available throughout Britain. They used a standard method for determining cost effectiveness, finding that ‘the estimated cost of avoiding the birth of a baby with Down’s syndrome was about 38,000 pounds, substantially less
84 For example, Wald is editor of the Journal of Medical Screening which he established in 1994 (Meade 1997), and Cuckle coordinates the International Down’s Syndrome Screening Group, comprising about 1,000 members who research and practise in that area (Cuckle 2002). Chapter five: regulating access to prenatal diagnosis page 356 than the lifetime costs of care’ (Wald et al. 1992a: 393). Amongst those who immediately responded to their paper, one used similar cost-benefit arguments to support their study (Bhatti and Mackie 1992). In contrast, others used cost-benefit arguments to claim that financial costs to the NHS would be too high, and also drew attention to other costs (eg, emotional costs to individual women of anxiety following a false positive result) (Clift 1992;
Gutteridge 1992; Keatinge 1992; Macri and Clark 1992; Wishart 1992).85
In Australia, experts in the medical genetics arena expressed early but qualified support of the triple screen, provided it was strongly regulated
(HGSA 1990; 1991b). They were being informed not only by reports from overseas in the literature but also by research in Australia,86 and from exchanging ideas with visitors to Australia87 as well as during their own overseas visits88 and in reports back to colleagues in Australia.89 The triple screen was as controversial in Australia as elsewhere.90 In the early 1990s
85 At the end of 1992, Cuckle again advocated maternal serum screening for Down syndrome throughout the UK, but at an earlier gestational age (13 weeks) and combined with ultrasound. He acknowledged, however, the cost-benefit problems in that the extra ultrasound costs might be prohibitive because a later detailed ultrasound would still be required to confirm (Cuckle 1992). 86 For example, at a pre-clinical meeting at about that time, an obstetrician reported on a conference paper that found the triple screen was as effective as existing maternal age screening in a Victorian study, although genetic counselling and dating ultrasound made it more expensive (GC4/7Diary26/7/93: 9, 15-16). 87 For example, visiting doctors from Holland and Finland, present at a pre-clinical meeting for the mixed public/private clinic (GC2), both described how the triple screen was well supported in their countries (GC2/3Diary10/8/93: 31-32). A genetic counsellor visiting from the UK told me in an interview that she and her colleagues used maternal serum screening tests, but had rejected the triple screen as ‘it is not all proven that the triple screen is the best’. Instead, they used a variant that omitted to measure estriol concentrations (G26i1: 270-275). 88 For example, a proceduralist at the public clinic (C20) reported positively at a pre- clinical meeting on a lecture he had recently attended in London about the triple screen, which had been delivered by Cuckle (Cuckle 1993). And a medical geneticist in training described in an interview how the triple screen had been a controversial topic at an international conference she had attended that year (C30i1: 590, 606-610). 89 For example, the director of the Victorian Genetic Service was a guest speaker at a NSW Branch meeting of the HGSA, presenting a report on the Canadian experience of MSAFP testing (Davidson 1990). 90 For example, the triple screen was a highly controversial topic at the HGSA conference that I observed in 1992. Chapter five: regulating access to prenatal diagnosis page 357 there were many health professionals in this study who did not support it. At the local level in the clinic, those doing genetic counselling found it ‘difficult to explain’ and ‘very limited in its application’.91 It was widely believed to not be useful for women aged 37 years and over because the formula for calculating the measurement of risk was too heavily weighted for maternal age (Haddow and Palomaki 1993: 198-199).92 It was not even offered at one clinic (GC2), where both the obstetrician in charge and the proceduralist disapproved of it.93
However others in medicine and government began to support it, with government playing an increasingly stronger role. The triple screen was first introduced in 1991 in Western Australia (O'Leary, Bower, Murch, Crowhurst, and Goldblatt 1996), when pilot studies already had begun in South
Australia, Victoria and New South Wales. 94 A maternal serum testing program for Down syndrome and neural tube defects was finally started in
Victoria in 1996 (Gardner 1996). In New South Wales a trial program had been set up in 199095 and an evaluation begun the following year (Winder et al 1992). Government and epidemiological medicine enrolled health professionals in the prenatal diagnosis social world into their models of screening programs when the State Health Department prepared guidelines
91 G6i2: 744; G3i3: 237 92 For example, an experienced genetic counsellor stated in an interview that she usually told older women ‘You will more than likely get a high or increased result which will then mean that you need to think about amniocentesis, so I don’t know how useful this is for you’ (G3i3: 4760477). 93 The proceduralist criticised the triple screen’s low detection rate, using a benchmark of a minimum 80 percent detection rate for a ‘good screening test’, and the lack of counselling resources offered by privately funded laboratories. The obstetrician had complained to Amersham about its marketing of the triple screen to private pathology laboratories at a low cost ($1 per test) without quality control support for establishing adequate population norms (C6i1: 731, 739; C6i2: 433; GC2/3Diary3/8/93: C22: 6, 14) 94 This information was provided during observed discussion after a conference paper (Taylor and Frommer 1992). Winder et al (1992) provided a report on the NSW pilot study. 95 G6i1: 54. Chapter five: regulating access to prenatal diagnosis page 358 for evaluating such screening programs (Frommer 1992: 86). In 1992 the
Federal government approved the triple screen for inclusion in the MBS,96 providing significant financial impetus to its adoption across the country.97
National regulation is discussed further in the next sub-section. Here, I shall focus on the role of medicine and science in diffusion of the triple screen. For example, the hospital where the public prenatal diagnosis clinic in this study was held began to offer the triple screen in the outpatients’ general prenatal clinic in mid-1993.98 It should be noted that some of the proceduralists working for that clinic had financial interests in a group of companies that included a privately funded genetics laboratory, which had earlier begun to offer the triple screen.99 Nursing sisters who worked in that outpatient’s clinic had been trained by genetic counsellors in this study to provide information about the triple screen, although there had been no evaluation of their practices.100 Health professionals in this study who do genetic counselling were actively educating GPs about the triple screen, in order to
96 The three biochemical compounds had been listed as separate items previously but used for different purposes. MSAFP testing of serum was specifically listed for the first time in the MBS in 1984 under Medicare Item Nos 1342/1343, which previously had described tests for specific proteins and ‘any other specific protein’ (personal communication, Mark Elliott, Pathology Section, Diagnostics & Technology Branch, HAFD, 4.2.00). In 1992 the three components of the triple screen were included together for the specific purpose of detecting ‘foetal abnormality’ under Item No 66321. Shortly after, a new numbering system was devised and they were combined in Item No 66259, which was later changed to Item No 66740 (DHHLGCS 1992 & 1993; HAFD 2001a). 97 In 1993, the Prenatal Diagnosis Consultative Panel (see end of sub-section 5.2.2) was dissolved and replaced by a working party located within the Department, which followed the HGSA policy by advising the government against the continued listing of the triple screen on the MBS (O33i1: 12). 98 G3i3:709-711. 99 The private laboratory already had a large established cytogenetics testing service, and started offering the triple screen earlier than the public hospital—at the end of 1992—only offering it to women aged 37 years or more (G16i1: 78). As noted earlier, however, others believed that this was the age group least likely to benefit from the triple screen (Haddow and Palomaki 1993: 198-199). The other companies that the proceduralists had interests in provided prenatal diagnosis, ultrasound and IVF services. They were active leaders in their professional organizations and in expert advisory committees to government on obstetrics and genetics (SIVF n.d.). 100 G3i3: G3, 479-490. Chapter five: regulating access to prenatal diagnosis page 359 regulate the information they provided to women and their referrals to approved laboratories and medical genetics clinics.101 A medical pathologist active in the medical genetics arena expressed the HGSA’s policy that supported the triple screen, provided highly centralised regulatory controls were available (Robertson 1991). An epidemiologist, working in government health policy, strongly supported the triple screen as the ‘most efficient screening test available’ (Taylor 1992: 101). The proceduralist in private practice in this study (C6), stated in genetic counselling that it was useful because it enabled women aged below 37 years to access prenatal diagnosis.102 At that time, he was deeply involved with setting up a triple screen service. With the State government’s growing interest in establishing such a program, he had been appointed to supervise a unit established at a large teaching hospital (H8) to carry out a state-wide feasibility study. A visiting specialist at the hospital, he was actively involved in supervising the genetic counsellors working in this program, as well as liaising with the government in his role as a member of an expert advisory committee
(NSWGSAC 1991: 26:).103
Diffusion of maternal serum screening tests has continued to be accompanied by debate about evaluation methods.104 For example, in the UK, an alternative to public health aims of population reduction of fetuses with
101 For example, a genetic counsellor (G3) spoke at a 1-day training workshop held for members of the RACGP that I observed, and provided lists of approved laboratories and medical genetics clinics. She concluded by speaking of the importance of pre-screening counselling, stating that ‘to have a routine blood test taken without an explanation and then to be given a result which was totally unanticipated is not only unethical but it is an extremely distressing experience for the woman.’ (Diary Clinical Genetics Update for GPs workshop at H4 on 23.10.93). 102 U32W/M-C5/PT; C5: 143. 103 C5i1: 193-204. 104 Four years after publication of his prospective study that claimed the triple screen was cost effective (Wald et al. 1992a: 393), Wald continued to defend himself from criticisms of his favourable economic evaluations of the test (Wald and Watt 1996). Chapter five: regulating access to prenatal diagnosis page 360 abnormalities was sought in an economic evaluation based on a utilities method, with the aim of considering what pregnant women may want
(Mooney and Lange 1993: 873, 875). However, a US group recently used a utilities method to conclude that maternal age screening should be abandoned and prenatal diagnosis made accessible to all women who want it
(Kupperman et al. 1999: 162). Lippman (1999) responded to the latter by questioning the researchers’ assumption that prenatal diagnosis is a ‘good’ to solve the ‘problem’ of Down syndrome. Moreover, however, the researchers’ finding that most women would prefer to lose the fetus after a prenatal diagnosis procedure rather than to give birth to a child with Down syndrome
(Kupperman et al. 1999) showed that the women they studied share their assumption.105
Some health economists have concluded that maternal serum screening programs are limited not by economic arguments but by ethical and social issues. This is because they point out that governments want to maximise savings by adjusting the benchmark risk for regulating access to prenatal diagnosis to improve the detection rate. However, this increases the number of ‘false positive’ and ‘false negative’ results, causing ethical and social problems from women then having to deal with the emotional consequences
(Seror, Muller, Moatti, Le Gales, and Broue 1993). At the same time, some US obstetricians rejected cost-effectiveness evaluations of the triple screen because they attach ‘a price tag to persons with Down syndrome’ in which the evaluation ‘no longer discusses the concern for a woman’s choice but seeks to
105 The aim of ‘informed parental choice’ has been criticised when it commodifies children, portraying childbirth with a production line metaphor and abortion as a quality control measure for replacing a ‘defective’ product with a ‘healthy’ one (Rothman 1989: 65- 66; Albury 1999: 21). Chapter five: regulating access to prenatal diagnosis page 361 demean and to estimate harshly the value of a significant population group’
(Elkins and Brown 1993).
5.3.5 Global and national regulation
Conflicts in regulating access to prenatal diagnosis have been described in detail for the Netherlands, where confusion has arisen from government’s rejection of maternal serum screening and medicine’s promotion of it
(Stemerding and van Berkel 2001). This section describes the complexity of relations between government and medicine that have led to such apparent irrationalities.
In Australia, medicine and government similarly have had difficulties in finding consensus on how best to regulate maternal serum screening tests.
Australian health ministers rejected a number of medical requests during the
1980s to fund a national MSAFP program, at least partly because of claims it did not comply with widely held standards of a good screening test.106 Two years after the triple screen was first reported (Wald et al. 1988b), and shortly before the prospective studies confirmed it (Haddow et al 1992; Wald et al.
1992a), the HGSA published a detailed policy statement that proposed a regulatory role for medicine in a government-funded national MSAFP program. Expressing similar concerns to their US colleagues (ASHG 1987), the Association argued for the inclusion of professional and public education, and laboratory and counselling services that were ‘tightly coordinated’ with diagnostic services. They wanted numbers of participating laboratories to be kept to a minimum for quality control, so that uncertainties in the analytical methods could be offset by data from large populations. They also wanted
106 GC2/3Diary3/8/93: C22, 12. Chapter five: regulating access to prenatal diagnosis page 362 numbers of counsellors to be increased, to ensure women were adequately informed before testing. They further recommended national funding by block grants to each State where, presumably, medicine would share the role with government in disbursing money at the local level (HGSA 1991b).107 The
HGSA policy became a political tool to enrol others in intersecting social worlds within the wider medical community, with an article in the Australian medical press that recommended a tightly regulated Australian screening program be established (Robertson 1991). 108 It was also a means for protecting the professional boundaries of HGSA members, by showing the political utility of their knowledge and practices at the same time as maintaining a visible distance from the political process itself.
At the international level, Australia is a member of (and currently chairs) the Global Harmonization Task Force that includes other member nation states of the US, Canada, the EU, and Japan (TGA 2001a & 2001b).
The recent movement towards globalized regulatory controls has guided
Australia to strengthen its government of medical devices, which include in vitro diagnostic devices (IVDs)—the class of tests covering maternal serum screening. Australia only began to formally regulate medical devices in 1987; according to the government, this was ‘in response to community concerns’
(TGA 2001a).109 The Therapeutic Goods Act 1989, which came into effect in
107 During discussion after a paper at the 1992 HGSA conference (Taylor and Frommer 1992), a laboratory scientist stated that the pilot maternal serum screening program in South Australia was successful primarily because it was an ‘integrated program’ that enjoyed ‘close association with our obstetricians and GPs’ across the State (Diary; HGSA Taylor: 81-82). 108 The author—head of the Department of Chemical Pathology at the Adelaide Children’s Hospital—was an active member in the HGSA and the arena of medical genetics in Australia, as her department specialised in the diagnosis of a range of genetic abnormalities (Robertson 1991). 109 An agreement between Europe and Australia came into effect in 1999 that largely aimed to support Australian manufacturing industry in accessing markets in Europe (TGA 1998a). Chapter five: regulating access to prenatal diagnosis page 363
1991, was the first legislative control system (TGA 1999a). IVDs, such as maternal serum screening tests, were exempt from these new legislative controls, however; regulatory control was left to medicine, in the form of the health professionals who administered the tests (TGA 1998a & 2001b).110
However, after a recent review, the Australian government this year brought in new legislation that will effect significant changes to the regulatory system and, in future, cover maternal serum screening and other genetic tests (TGA
2002; 1999b; 2001b).111
Financial regulation has been effected by strongly inter-dependent decision-making between medicine and government. This is exemplified in the government’s decision in 1992 to include the triple screen in the MBS as a pathology item, on advice from an expert committee—the PSTC (see
Appendix 6).112 That committee comprises five representatives from government and five from interested professions that are generally outside the genetic prenatal diagnosis social world.113 The test was described as a diagnostic test—a ‘quantitative estimation ... to detect foetal abnormality’—
110 On the other hand, pregnancy test kits able to be self-administered at home were not exempt (personal communication, Jane Hughes, TGA, 21.1.00; also see TGA 1995). Government in Australia gave more power to medicine than was the case in the US, where maternal serum screening tests have had to be submitted to FDA regulatory control since the invention of MSAFP screening tests for neural tube abnormalities (see footnote 62). 111 Both the European and Canadian systems were considered as guides for framing the new Australian legislation that is due to come into effect in 2002 (TGA 1998a). 112 The PSTC is the latest expression of government’s attempts to regulate pathology through linking it with the Medicare scheme, dating back to the establishment of the Pathology Services Working Party in 1976 (Sax 1984: 139-140). Three other government committees have joined the PSTC to regulate pathology, through accreditation of laboratories (NPAAC), relations with relevant professional associations (PCC), and relations between both prescribers and pathologists (QUPC) (HAFD 2002c). 113 As at February 2002, the following peak professional bodies were represented on the PSTC: two members each from the RCPA (Royal College of Pathologists of Australasia) and the Australian Association of Pathology Practices (AAPP), and one from the Australian Medical Association (AMA) (HAFD 2001c). For pathologists from private industry and public hospital practice and doctors more generally, biochemical blood testing has become a routine simple procedure not easily associated with specialised cytogenetic testing. Minutes of the committee meetings do not indicate that formal advice was sought from health Chapter five: regulating access to prenatal diagnosis page 364 with no reference to it being a screening rather than diagnostic test, as was being emphasised by actors in the genetic prenatal diagnosis social world
(DHHLGCS 1992).114 Indeed, the descriptor omitted even to specify that the test be done in the second trimester, an omission that was corrected soon after (DHHLGCS 1993). Ironically, it appears that the government’s agreement to list the triple screen on the MBS may have been an effort to control the already successful marketing of the test to pathology practices.115
For many in this study, the listing of the triple screen as a Medicare rebatable item was a surprise and a disappointment. Actors in the social world of prenatal diagnosis in Australia had been unable to enrol health professionals in other laboratory and pathology services sufficiently to convince them of their preferred method for regulating and linking laboratories and counselling services with the triple screen technology.
However, they are making continuing efforts. The HGSA more recently reported that it had strengthened links with the broad discipline of pathology.116 Although it had been unsuccessful previously in lobbying the government through liaising with RACOG (Goldblatt 1995), the HGSA has been able to strengthen its links with pathologists as an alternative means to exert stronger regulatory controls, and for the triple test technology to
professionals outside the committee (personal communication, Mark Elliott, Pathology Section, Diagnostics & Technology Branch, HAFD, 24.1.00). 114 It should be noted that screening tests have been specifically excluded from the MBS, ‘unless the Minister otherwise directs’ ( DHHLGCS 1992: 14). However, some exceptions have been made, such as the Pap smear test. The financial costs to government of this exception were high: in 1988-89 the Pap smear had become the fifth most commonly ordered pathology service (Deeble and Lewis-Hughes 1991: 33). 115 A medical geneticist stated at an observed prenatal diagnosis workshop that ‘the rationale for granting a Medicare item number was apparently to monitor its use’ (Goldblatt 1995). 116 Legitimating its genetic practices in medicine as ‘science,’ the HGSA has recently sought to establish a Faculty of Medical Science within the Royal College of Pathologists of Australasia (RCPA), with the hope that ‘a greater understanding of the role of scientists in laboratory genetics by the College ... will facilitate building stronger relationships in the future’ (Colley 1999). Chapter five: regulating access to prenatal diagnosis page 365 become more strongly embedded within the genetic prenatal diagnosis standardised package. A possible effect is the revision of the Medicare listing of the triple test in November 1998 to remove the requirement for second trimester screening, at a time when claims about its use earlier in pregnancy were becoming more successful and, thus, promising that new screening technologies done at earlier gestational stages may more readily receive government support. 117 More clearly, the HGSA now has representation on a politically powerful Working Group within the TGA that is investigating In-
Vitro Devices for AHMAC—the Australian Health Ministers’ Advisory
Committee (HGSA 2002).118 The TGA Working Group will no doubt have an impact on policy about maternal serum screening affected by the recent legislative changes governing IVDs.
At an international level, the controversies about maternal serum screening remain largely unresolved. Divisions within and between government and medicine have enabled maternal serum screening to be established inconsistently in a range of forms (MSAFP only, and/or with other indicators such as maternal age and other biochemicals such as in the triple screen) in a range of geographical locations and in a range of publicly and privately funded services. It has received qualified medical support in many countries, including Australia (Suthers and Haan 1995), Denmark
(Goldstein and Philip 1990), Japan (Kishida et al. 2000), Italy (Mancini et al.
117 The triple screen has been under review again since then, although the government’s deliberations are difficult to access. Unlike the US, and more like the UK [#, Australian committee decision-making processes are protected from public scrutiny. For example, minutes of the MSAC (a powerful and the most recent advisory committee) were considered confidential and not available (personal communication, Mark Elliott, Pathology Section, Diagnostics & Technology Branch, HAFD, 24.1.00). 118 In its highly political role of advising government ministers, the Working Group may have been formed for the short term only, as it is not listed amongst the TGA’s committees on their web page (TGA 2001c). Chapter five: regulating access to prenatal diagnosis page 366
1991) and the Netherlands (Stemerding and van Berkel 2001).119 In the UK, most health authorities now offer some sort of Down syndrome screening
(most often a maternal serum test), whilst its evaluation continues. However, there is still significant resistance to various forms of maternal serum screening testing. For example, a national evaluation committee in the UK was recently warned to consider ‘the lack of evidence to suggest that triple testing is superior to double testing” (Reynolds 2000a). Indeed, a very recent and extensive audit in one UK health region (Wellesley, Boyle, Barber, and
Howe 2002) concluded that a recently announced government initiative to introduce a national serum screening program from 2004 would fail.120 They found that existing maternal age screening, together with widely established and routine fetal anomaly ultrasound scans in the second trimester, were just as effective, if not more so, than other maternal serum and ultrasound screening programs (Wellesley et al. 2002).Claims continue to be made about other better screening technologies. For example, recently DNA testing of maternal serum has been enthusiastically promoted for diagnosing Down syndrome, although others have criticised the technology as ‘unreliable’ and
‘unsafe’ (Hulten 2001).121 Others continue to question the ability of maternal
119 A visiting doctor from The Netherlands stated in an observed preclinical meeting that the participation rate in maternal serum screening would benefit from the government’s requirement for all single pregnant women to register at a community health centre before 12 weeks gestation (in order to qualify for a special income scheme for the year after the birth) (GC2/3Diary10.8.93: 32). 120 The authors noted that the eight districts in the health region studied used seven different screening policies. Moreover, they noted that in those districts where maternal serum screening was routinely offered, 40 percent of women refused it, asking instead for amniocentesis, and 20 percent refused any test at all (Wellesley et al. 2002:17). This study continued the authors’ previous criticisms of maternal serum screening (Howe et al 2000). 121 The media responded excitedly to a report in The Lancet (Poon et al 2000) that Down syndrome had been detected using DNA tests to identify the extra chromosome 21 from fetal cells circulating in very low concentrations in maternal blood. However, another researcher in the field was critical not only of the test itself but also of the way the research had been ‘leaked’ in a press release issued before publication, fomenting the media ‘hype’ that followed (Hulten 2001). Chapter five: regulating access to prenatal diagnosis page 367 serum screening to increase equity of access. For example, a UK study found little public health benefits for maternal serum screening in some areas, such as in lower socioeconomic areas with a high Asian population (Ford et al.
1998). Despite the commonly accepted notion that the triple screen is best for younger women, a recent study in the US found that older rather than younger women benefited most (Beazoglou, Heffley, Kyriopoulos, Vintzileos, and Benn 1998). On the other hand, another recent US study has found that the benefits outweighed the costs for the triple screen program in California, even when the services were not well used (Cunningham and Tompkinson
1999).122 This was possibly due at least in part by State legislation in 1990 that tightly controlled regulation of clinical and laboratory components of genetic prenatal diagnosis services (California Health, Genetic Disease
Branch n.d.). However, a European study noted in particular the lack of legislative controls and the proliferating commercial products on offer without any pre-test counselling. (Chadwick 1997).123 Finally, power relations between medicine and government articulate potential and real economic benefits that individuals and organizations stand to gain from patenting and marketing maternal serum screening tests. For example, Wald and Cuckle both hold positions of influence on government committees whose decisions control policies on maternal serum screening programs, and they have
122 The triple screen program was established in California in 1995 (California Health Services Genetic Disease Branch n.d.) 123 In the early 1990s, only Austria, France and the Netherlands had enacted legislation to regulate genetic screening. Cystic fibrosis carrier status and the triple test were both specifically mentioned as cause for concern about the lack of ethical development of pre-test counselling with commercial exploitation (Chadwick 1997). Chapter five: regulating access to prenatal diagnosis page 368 financial interests in products of their research.124
5.4 Chapter summary: Governing access to prenatal diagnosis
In this chapter I firstly described how the screening technology of maternal age has been configured within the standardised package of prenatal diagnosis as a way for medicine and government to regulate access to that package. In the remainder of the chapter I described the construction of maternal serum screening tests as contenders to replace maternal age, and their difficulties and successes in becoming incorporated into the prenatal diagnosis package.
The technologies of maternal age screening and genetic counselling, as components of a standardised package of prenatal diagnosis, together have enabled collective work across different social worlds in an ethics of reproductive choice. ‘Advanced maternal age’ has acted as a boundary object, in that it has inhabited the intersecting social worlds of government, medicine and maternity and satisfied each of their requirements. A benchmark age limit has been adaptable to local needs and constraints, to satisfy the needs of medicine for staff and resources to do genetic counselling and laboratory work, and of government’s budgetary goals and constraints.
124 A UK expert has questioned the influence of those who own patents in maternal serum screening technologies on the UK government’s National Screening Committee (which recently recommended a national screening program) and on any clinical trials or other research into their effectiveness (Reynolds 2000a & 2000b). Wald and Cuckle have played a major role in researching maternal serum screening. Cuckle is a member of the Working Party on Laboratory Standards of the UK Departments of Health National Screening Committee, and of the Population Screening Panel of the NHS Central Research & Development Committee’s Standing Group on Health Technology. Wald is an honorary member and scientific adviser to the UK Departments of Health’s Antenatal Subgroup of its National Screening Committee. Both he and Cuckle hold shares and a paid directorship in Logical Medical Systems Ltd, a company that produced the ‘Alpha’ brand software integral to the triple screen for analysing test results (Health UK National Screening Committee 1998b; Cuckle n.d.). The Alpha software was used by laboratories in Australia that carried out analyses of triple screen tests (Sinosich 1995). Both Wald and Cuckle stand to gain financially from patents covering their inventions (for example, see footnote 83). Chapter five: regulating access to prenatal diagnosis page 369
Uncertainties over medico-scientific claims about what constitutes high risk of chromosomal abnormality in the fetus and over government’s political interpretations of them have created a ‘grey’ area in the boundary around a negotiated benchmark. Medicine has used the concept of ‘maternal anxiety’ to allow women who inhabit this ‘grey’ area to still participate in the collective work. Maternal age screening thus has enabled medicine and government to regulate both the genetic fetal body and maternal rationality, and in a way that facilitated medicine to be seen to operate at a distance from government.
A complexity of power relations has constructed multiple and often conflicting roles of maternal serum screening technologies in its struggle to become an additional component of the standardised package of prenatal diagnosis. Advocates of the triple screen have argued that it is a significant improvement on maternal age in governing the fetal body with Down syndrome. Claims that the triple screen could more than double the detection rate of maternal age alone, have relied on medicine’s public health and health economics models for evaluating screening tests and government’s aims to regulate population health. The latter include claims that government not only can regulate the fetal body but also equity of access to women at high risk of having a fetus with Down syndrome. Thus maternal serum screening tests have introduced a new moral obligation of governing the self with respect to prenatal diagnosis: a citizen’s right to access prenatal diagnosis as a health care service.
Nevertheless, loosening the strong connections between maternal serum screening tests and genetic counselling in the package has exacerbated uncertainties in such evaluative models and, thus, the regulatory processes of Chapter five: regulating access to prenatal diagnosis page 370 government. As a simple blood test able to be done on all women during standard prenatal care, maternal serum screen has been positioned differently from maternal age screening in the prenatal diagnosis package.
For such large-scale use, genetic counselling in the clinic often devolves to other health professionals in intersecting social worlds, such as GPs, obstetricians, nurses in prenatal clinics, and/or those working for pathology companies that perform the laboratory analyses. In turn, the standardised nondirective and psychosocial methods of genetic counselling broadly accepted in the prenatal diagnosis social world become destabilised, because these new intersecting social worlds marginalise maternal rationality as an additional part of the self to be governed in such devolved forms of genetic counselling. Instead, they construct an additional funnelling process in the clinic that materialises and normalises a genetic fetal body.
Beyond the clinic, maternal serum screening tests also promise to intensify surveillance and the normative meaning— indeed, the very existence—of large populations. Moreover, the researchers, corporate decision-makers and other actors in these new social worlds stand to gain financially and in prestige, both personally as individuals and in terms of benefits to their organizations. As a boundary object, maternal serum screening tests are tools for translating their needs. The common identity of these screening tests across social worlds—as biochemical tests better able to screen for chromosomal abnormality in the fetus—is sufficiently open to interpretation at the local level to be used in a number of variant forms, including the triple screen, and combinations of them. However, their effectiveness as boundary objects is limited by their positioning within the prenatal diagnosis package and, in particular, to their different linkages with Chapter five: regulating access to prenatal diagnosis page 371 genetic counselling. Actors in these new social worlds have not (yet) developed an ethics of reproductive choice that guides those who have traditionally done genetic counselling. In particular, they have not (yet) identified a sufficiently strong need to distance themselves from government and eugenic ‘monster’ stories.
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Chapter Six
Conclusion: Governing the Maternal Body
The object of our governmental investigations is not the subject that is produced by specific governmental or ethical practices. It is the relation between the forms of truth by which we have come to know ourselves and the forms of practice by which we seek to shape the conduct of ourselves and others (Dean 1997: 394)
6.1 Introduction
In the previous chapters I have described how Western government and medicine introduced a new way to govern the maternal body, with the development of a prenatal diagnosis standardised package (Fujimura 1992) for diagnosing genetic abnormality in the fetus. Its most common use has been for diagnosing chromosomal abnormalities in the fetus and, specifically,
Down syndrome. The standardised package comprises a dynamic and heterogeneous assemblage (Deleuze and Guattari 1987: 90; Novas and Rose
2000: 492) comprising scientific knowledge claims about the maternal body and about diagnostic technologies for generating them, the diagnostic clinical and laboratory technologies and techniques themselves, screening tests for regulating access; abortion technologies and techniques sanctioned by changed social attitudes and government legislation, and genetic counselling services that aim to help women to make reproductive choices (about how, if at all, to use those other elements of the package). Health professionals drawn from the medical genetics arena into the prenatal diagnosis social world (Strauss 1978: 122) have used a risk discourse about the dangers of genetic abnormality to the ageing maternal body, and of the prenatal diagnosis technologies offered as a solution, to construct an ethics of reproductive choice for individuals to make genetically responsible decisions Chapter six: governing the maternal body page 373
(Novas and Rose 2000: 493). In this chapter I give a brief overview of my previous description of the biopolitics (Foucault 1984a: 139-145) of the most common use of prenatal diagnosis in detecting chromosomal abnormalities in the fetus. I then draw on that description to provide a socio-historical analysis of four major ways that prenatal diagnosis forms an ethics of reproductive choice (Foucault 1987: 25-29).
In Chapter two I described how health professionals use a risk discourse in genetic counselling that materialises and normalises a reproductive genetic body, in terms of an origins story about chromosomal abnormality in the fetus and its cause in abnormal production of an ageing woman’s eggs. Using
Canguilhem’s metaphorical description of such a risk discourse, cited at the beginning of Chapter one, these discursive practices could be said to govern the maternal body by ‘verifying the regularity of numbers’ in nature’s ‘lotto sack,’ and constructing maternally derived chromosomal abnormalities as an
‘atrocious burden of producing errors of life.’ In Chapter three I described how ‘players are allowed to draw’ from the ‘lotto sack’, when I described how health professionals construct genetic counselling as a technology of the self
(Foucault 1988: 18) for individual women to manage the burden of chromosomal abnormalities in the fetus. In response to eugenic monster stories about ‘gene police’ and ‘absolute remedies,’ health professionals have used at least three models of genetic counselling—non-directive, guidance, and psychosocial—as ethical alternatives for governing the maternal body. I described how these models of genetic counselling developed with the establishment and growth of human genetics, of the medical genetics arena within that discipline, and of a division of labour amongst the health professionals within that arena. Medicine gained a monopoly over legitimate Chapter six: governing the maternal body page 374 knowledge (Gieryn 1995: 424-429) and has been able to limit access to the medical genetics arena to only those authorised to occupy that space.
Nevertheless, once allowed to enter, professional groups have opportunities to shape knowledge and practices in new ways. The profession of genetic counsellor, grounded in the sciences of genetics and psychology, and formed at the time that prenatal diagnosis was first introduced, helped to promote a psychosocial model of genetic counselling that also professed a non-directive method.
In Chapter four I described the disciplining of individual bodies and technologies with what medicine and government offer as technoscientific solutions that can ‘spare innocent and impotent living beings.’ These govern the maternal body by constructing and normalising multiple fetal bodies, and constructing individual choices as technological in terms of diagnostic certainty and fetal safety. Finally, in Chapter five I described the government of populations through the provision of prenatal diagnosis services and regulation of women’s access to them. Despite a rhetorics that rejects
‘eugenics,’ medicine and government govern the maternal body by regulating local and global provision of the various elements of a prenatal diagnosis package, including the diagnostic techniques and technologies themselves, the staff who provide them, the genetic counselling services that describe them, and the screening technologies that control access to them. Maternal age has been the primary screening tool for regulating access to prenatal diagnosis, after which genetic counselling constructs certain choices women can make to use, or not use, particular technologies offered to them. Since then, medicine and government have produced a complexity of possible screening tests. Maternal serum screening tests provide modified risk Chapter six: governing the maternal body page 375 assessments of fetal chromosomal abnormality that are based on maternal age, and may be used in conjunction with, or in addition to, ultrasound tests.
Some health professionals have used a psychosocial model of genetic counselling to problematise maternal serum screening and its diagnostic uncertainty. However, others have treated these new biochemical tests as improvements on, and potential replacements for, maternal age screening.
Hence, they have seen no reason for other changes to the prenatal diagnosis standardised package, such as additional genetic counselling before a maternal serum screening test.
Thus a standardised package of prenatal diagnosis technoscience has generated a complex biopolitics of the maternal body and of an ethics for its government. In the remainder of this chapter, I summarise four ways that prenatal diagnosis has formed such an ethics
6.2 Identifying bodies and maternal body parts to be governed
Health professionals and their clients in genetic counselling construct a multiplicity of bodies to be governed with prenatal diagnosis. The trajectory of genetic counselling draws on elements of the prenatal diagnosis package to materialise and normalise a genetically determined maternal body. It constructs the ageing maternal body as increasingly deviating from a normalised reproductive system, causing degeneration of the eggs produced and, thus, chromosomal abnormality in the fetus. Available technoscientific tools construct chromosomal abnormalities in a genetic fetal body as the object to be governed. Government and medicine target the genetically abnormal fetus as the object to be governed by regulating women’s access to prenatal diagnosis according to maternal age. Government exerts legal and Chapter six: governing the maternal body page 376 economic controls at national, State and local levels. It does this in negotiation with medical genetics’ professional authority that converts uncertainties into facts, exerts controls over the provision of those facts in genetic counselling, and enrols scientists and other health professionals in providing diagnostic, abortion and other elements that make up a prenatal diagnosis standardised package.
The consent form used in observed Australian clinics before a procedure was done translated a non-directive model of genetic counselling and professional fear of litigation over wrongful birth into a fetal body as the primary object to be governed. On the other hand, alternatives such as a consent form recommended by the WHO (1998) and referred to in Chapter 4
(sub-section 4.1.2) followed more of a psychosocial model of genetic counselling, which identified rational bodies (ie, bodies that make decisions unaffected by emotions) to be governed—maternal, paternal, other family members, and broader social relations within which they are positioned.
Health professionals I observed and interviewed often included many of these additional bodies to be governed in their practices, despite excluding them from legal documents such as the consent form.
When health professionals in the medical genetics arena invented the model of non-directive genetic counselling, they assumed a rational body able to make genetically responsible decisions. A genetic body was the object to be governed. Nevertheless, by identifying the emotions as also needing to be governed, the later guidance and psychosocial models of genetic counselling problematised the rational maternal body. The guidance model retained a significant role for the health professional to intervene in governing the maternal body, and identified the client as a discrete decision-making Chapter six: governing the maternal body page 377 individual. In contrast, the psychosocial and non-directive models together better enabled the health professional to avoid eugenic ‘monster’ stories by constructing the client as the sole decision-making actor. Moreover, the psychosocial model more strongly expanded the notion of the client to include the individual’s relations with others and, thus, blurred the boundaries between the individual client, members of the family and others in a broader social sphere. Thus the woman and her significant others became additional object(s) and subject(s) to be governed/govern themselves in an ethics of reproductive choice. Thus, prenatal diagnosis provided a means for governing more than a genetically determined fetal body and the maternal body that causes chromosomal abnormality.
When a prenatal diagnosis standardised package was first established in the 1970s with the practice of amniocentesis, the maternal body was divided into its fetal and maternal constituents that served to identify the fetal body as the object to be governed. Amniotic fluid was believed to be a mixture of fetal products that separated the fetus from the woman’s body, which was a barrier that needed to be penetrated to access information about the fetal body. The use of ultrasound to estimate fetal age and to guide the amniocentesis procedure strengthened the focus on the fetal body. The addition of CVS into a new prenatal diagnosis standardised package in the
1980s blurred the materno-fetal boundary, in that information about the fetal body was taken from placental tissue—partly maternal and partly fetal in origin. Subsequently, this tissue was problematised as being a slightly less reliable, although still suitable, source for genetic information about the fetal body. Initially, empirical data on a slightly higher fetal loss rate after CVS than after amniocentesis further problematised government of the fetal body, Chapter six: governing the maternal body page 378 until it could be explained in terms of ‘nature’ governing the abnormal fetus by spontaneous abortion during early gestation. Health professionals thus accepted both amniocentesis and CVS as suitable tools for governing a genetic fetal body, although the boundaries of the fetal body became less certain.
Moreover, one of the perceived benefits of CVS was in governing the emotions of a rational maternal body—an earlier diagnosis and an earlier abortion were understood to be less emotionally traumatic for the woman.
Thus CVS expanded the (parts of the) bodies identified as needing to be governed. Also in the 1980s, genetic counsellors discovered that the emotions of a rational maternal body needed to be governed in new ways with respect to amniocentesis. The invention and problematisation of genetic termination after amniocentesis produced new rituals for governing the emotions during grieving, producing a new normalised fetal body for viewing after the abortion following amniocentesis.
Also in the 1980s the addition of ultrasound at 16 to 18 weeks’ gestation—the fetal anomaly scan—to the prenatal diagnosis standardised package broadened the type of information that could be obtained about the fetal body and produced greater diversity in the fetal bodies to be governed.
At the time that fieldwork was done for this project, the ultrasound scan was proceduralist’s primary tool for negotiating claims about fetal abnormality in the prenatal diagnosis clinic. Health professionals from the medical genetics arena who participated in the prenatal diagnosis clinic discussions negotiated new genetically determined identities for some of them, where judgements about anatomical abnormality intersected with those about genetic abnormality (such as anomalies of the head, neck, heart, digestive system and Chapter six: governing the maternal body page 379 leg that were used as indicators for Down syndrome). Such clinical judgements about anatomical abnormality have historical roots in medicine and government’s regulation of people with Down syndrome in institutions and the clinic since the early 19th century. In the second half of the 20th century, medicine and government discovered new ways of regulation through the maternal body: a prenatal diagnosis standardised package moved the site for governing the body with Down syndrome from the institution to the clinic.
Maternal serum screening was a new element that medicine and government were struggling to position within the prenatal diagnosis standardised package at the time I did fieldwork for this project in the early
1990s. The triple screen and other similar tests add greater complexity to the parts of the self to be governed by producing multiple biochemical bodies.
Health professionals and government have had difficulty in negotiating consensus over uncertainties in the meanings and government of these bodies. The precedents for maternal serum screening tests to detect Down syndrome produced both genetic and other fetal and maternal bodies. Firstly,
Penrose’s research in the 1930s produced a need to govern the maternal body. This was reaffirmed in the 1980s after an unsuccessful challenge by those who claimed a significant paternal origin for chromosomal anomalies.
Secondly, the MSAFP test developed in the UK in the 1970s produced a need to govern the fetus with neural tube abnormalities by population-wide screening. These abnormalities were believed to be only partially genetically determined, and not identified with chromosomal abnormality at all. Whilst the aim of such screening programs was the government of the abnormal fetal body, the test itself targeted a biochemical maternal body. Since then, Chapter six: governing the maternal body page 380 multiple biochemical maternal bodies have been produced in the search for new ways to govern the chromosomally abnormal fetal body. MSAFP and a host of other proteins circulating in, and sampled from, the woman’s body
(such as hCG, estriol, and PAPP-A) have been investigated as biochemical indicators of abnormal fetal development due to genetic and other causes.
Health professionals have identified a genetic fetal body needing to be governed when negotiating with other health professionals and government to support and fund prenatal diagnosis services. Using already established public health models for screening tests, maternal serum screening tests promise to better meet government’s aims of improving population health and of minimising the cost to do so. Abortion is crucial in that it provides a suitable ‘treatment’ for the genetic fetal body diagnosed with a chromosomal abnormality—one that ‘prevents’ abnormality and that offers government considerable financial savings in avoiding their (increasingly long-term) care after birth. In their negotiations to convince other health professionals that maternal serum screening tests work, advocates of such tests have been criticised specifically for prioritising government of a genetic fetal body over that of the rationality of the maternal body. The lengthy genetic counselling required to explain the complexities of the triple screen would come at a high cost—even non-medically trained genetic counsellors are highly trained and not available in the numbers that would be required for population-wide screening. The alternative of using genetic counsellors to train other health professionals in this specialised application of genetic counselling shows how it can act as a boundary object (Star and Griesemer 1989). Doctors, nurses and other delegated health professionals in, for example, the general practice or obstetric clinic have shown the plasticity of genetic counselling as they Chapter six: governing the maternal body page 381 make it conform to their routines and practices. Their usually more restricted time for providing the information and emotional support, and the many routine blood tests they already offer to pregnant women, create conditions that produce a genetic fetal body, rather than a rational maternal body, needing to be governed.
Thus, prenatal diagnosis articulates multiple bodies needing to be governed by an ethics of reproductive choice. Its apparent low risk of physical harm to the woman has produced two primary bodies as the object for government: the genetic fetal body, and the rational maternal body.
However, genetic counselling locates them within networks of other bodies, both by searching through generations for inherited illnesses and by exploring emotional and psychological relations between family members and in their wider social relations.
6.3 Ways of relating to the maternal body
Genetic counselling about prenatal diagnosis articulates a duty for the client to manage genetic risk by making genetically responsible decisions. This moral obligation is most clearly expressed in the consent form that the client signs after genetic counselling. The prenatal diagnosis standardised package thus becomes an ethical ‘resource for life planning’ (Novas and Rose 2000:
508). As a strategy for the health professional to reject eugenic ‘monster’ stories in their ethic of care for the patient, a non-directive model of genetic counselling constructed the client as a rational individual, defined in terms of an autonomous individual taking responsibility for their choices. The later addition of the guidance and psychosocial models of genetic counselling re- defined rationality: it included the management of the client’s emotional and Chapter six: governing the maternal body page 382 psychological well-being, in addition to that of their children and other family members, and of their wider social relations. As such, genetic counselling mobilises multiple other moral obligations, such as maternal/parental duty to care for the child(ren)/family, a citizen’s duty to care for the health of a nation, and the health professional’s duty to care for her as a patient. A client can even construct her genetically responsible decision in terms of a church member’s duty to fulfil divine law, whether that involves accepting or refusing testing and a follow-up abortion.
The client’s ethical reproductive choices include possible life planning for her fetus as a genetic body with Down syndrome. The technoscientific tools of prenatal diagnosis can only detect a chromosomal anomaly, being unable to predict the extent of any effects. Health professionals following a non-directive model of genetic counselling do not explore the client’s understandings of Down syndrome in any depth. They are much more likely to draw on medical prognostic claims gained from clinical skills. Medical geneticists largely construct a negative future of abnormality for the person with Down syndrome, in terms of a high risk of moderate to severe suffering—one sufficiently strong to persuade those who do genetic counselling that an abortion is the most genetically responsible decision.
Some who resist have called for their colleagues to gain different understandings, by locating their work practices in places where they can come into more contact with people with Down syndrome and those who care for them. The institutionalisation of people with Down syndrome provides a limited opportunity for others to form their own understandings from a direct encounter; they must rely more on medicine, the media and other people’s opinions and experiences. In addition, public controversies about Chapter six: governing the maternal body page 383 prenatal diagnosis—fuelled by competing claims, such as from disability activists, feminists, religious leaders and members of genetic support groups—provide other potential resources for the client to form their own constructions of the body with a chromosomal abnormality.
Genetic counselling’s potential for medicine to present the dominant negative construction of the body with a chromosomal abnormality also can be resisted, or subverted, by genetic counsellors themselves. With their training located more in the psychological and genetic sciences than in medicine, they can bring with them other constructions of the life trajectory of a person with Down syndrome, for example. Others with more diverse training and skills who may also provide genetic counselling (such as nurses, social workers, GPs, and obstetricians) can increase the multiplicity of bodies that the client can use in making a genetically responsible decision.
Moreover, the genetic counsellor’s aim to help people understand themselves more broadly than simply in terms of genetic risks of fetal abnormality make prognosis an activity that is more inclusive of the client’s understandings.
Hence, the genetic counsellor may resist providing anything more than a brief summary of the dominant medical prognosis—one that perhaps removes what are perceived to be more subjective elements. They also can defer working with the client’s understandings of Down syndrome, reserving that work for the smaller numbers who receive a diagnosis of Down syndrome in their fetus.
Genetic counsellors have constructed a more distanced relationship with the client by promoting a new form of genetic support group for those who have had a ‘genetic’ abortion. The support group is another technology of the self that aims to provide a means for a genetically responsible decision- Chapter six: governing the maternal body page 384 maker to govern the emotions and, thus, a rational maternal body. Possibly the client’s greater distance from professional authority in the clinic was a cause of problems in maintaining their participation in the group. However, it is also possible that the clients’ already partly formed moral obligation to govern themselves as future parents caring for a child led them to understand this could best be met by only short-term care of their emotions by such groups, subsequently freeing them to work towards the longer-term aim of producing another child.
Medicine’s strategy of resistance to eugenic ‘monster’ stories was to construct the individual in the clinic both as a patient for whom the health professional has a duty of care and as a client of genetic counselling who has a duty to make genetically responsible decisions. Despite this strategy of protecting itself by keeping politics at a distance (Gieryn 1995), in its many negotiations with government medicine has continued to mobilise an alternative moral obligation of the citizen caring for the health of the nation.
For medicine and government, the social good competes with, and can overrule, that of the individual. Moreover, audit tools developed with the rise of neo-liberal economic rationalism in the 1980s provided conflicting ways to measure the social good. These brought controversy within the genetics arena over what outcomes to measure and what methods to use to measure them.
Similarly, within the social world of prenatal diagnosis, there have been debates about how maternal serum screening tests can best work effectively.
Medicine and government have used public health models of screening tests and aims of minimising costs of health care to prioritise a moral obligation to care for the social good, understood as the elimination of people with Down syndrome, when regulating provision of, and access to, prenatal diagnosis Chapter six: governing the maternal body page 385 services. Once a woman has been judged to be at ‘high risk,’ she is given the duty to make genetically responsible decisions that then can include governing the emotions. Thus, medicine, government, and individual women who might use such services perform a dynamic ethics of reproductive choice that subjects the maternal body to sometimes competing moral obligations
6.4 Technologies for governing the maternal body
Genetic counselling, screening tests, diagnostic procedures and tests, and abortion procedures are technologies of the self, which form heterogeneous assemblages that govern the maternal body when individual women practise an ethics of reproductive choice about their use.
Genetic counselling about prenatal diagnosis is a technology of the self, which uses a model of non-directiveness to construct the woman (and her significant others) as a rational individual, with a duty to make genetically responsible reproductive choices for governing the fetus. A funnelling process guides the trajectory (Strauss 1993: 53-54) of genetic counselling in the individual encounter in the clinic. Interactions between the health professional and client materialise and normalise a genetic maternal body, problematising the fetus with chromosomal abnormalities. Its position in the clinic and its construction of the client as an active decision-maker produced even more complex collaborative work that was more inclusive of the clinic patient than for much of medicine. In broader historical terms, professional power relations have described a path of changing models that have guided the trajectory of genetic counselling. The guidance and psychosocial models of genetic counselling added maternal emotions and, thus, the rationality of the maternal body as also needing to be governed. The combination of non- Chapter six: governing the maternal body page 386 directive and psychosocial models provides a greater possibility for the client to gain a sense of autonomy, and has been especially favoured in the US where liberal individualism is a dominant cultural value. By distancing itself from reproductive decision-making in this way, medicine and science has been able to use genetic counselling to protect the power of professionals who perform the work. Genetic counselling has been a successful tool in the formation of human genetics as a discipline, and in creating the boundaries of a medical genetics arena within it. It enabled genetics science and medicine to perform new collaborative relations outside the laboratory.
Later, with the introduction of prenatal diagnosis, genetic counselling provided an opportunity for the formation of new health professions, such as the genetic counsellor, genetics nurse and genetics social worker.
‘Advanced maternal age’—the first screening test used to regulate access to prenatal diagnosis—has met with wide, but not complete, success in becoming inserted in the prenatal diagnosis standardised package. Even in one public clinic I observed in this study, which required the booking clerks to automatically make an additional appointment in the genetic counselling clinic for women over the age of 37 years, only about three quarters of the women actually attended. One factor affecting women’s attendance would be spontaneous abortion during early pregnancy. Another factor could be limits in the ability of genetic education programs to reach other health professionals and pregnant women, sufficiently to convince them about the dangers of increasing maternal age causing chromosomal abnormalities in the fetus. Other differences in rates of attendance appear to be caused by ethnic, language, socioeconomic, and geographic barriers. Chapter six: governing the maternal body page 387
Controversies over maternal serum screening tests have produced conflicting levels of support and strategies by government and medicine. The controversies have centred on uncertainties in the tests’ perceived ability to work, made more complex by consensus about their safety and by their ease of introduction into the clinic as a ‘simple blood test.’ Health professionals in the prenatal diagnosis social world have used existing benchmarks, based on judgements about maternal age and high risk of a fetus with a chromosomal abnormality, in order to set a normative boundary for determining a high risk result after a maternal serum screening test. Although many claimed the triple screen produced a higher detection rate, with about the same level of false positive results, than maternal age alone, many health professionals did not like it. During my fieldwork, the health professionals described the triple test as a screening test but treated it as though it was a diagnostic test of high uncertainty. Thus, they wanted women to have genetic counselling before deciding whether to have a triple screen test, positioning maternal serum screening relative to genetic counselling and the other elements of the prenatal diagnosis standardised package in a way that served to codefine and corestrict those constituent elements. They used the prenatal diagnosis package in a way that could stabilise facts about a suitable benchmark for high risk of chromosomal abnormality in the fetus (about 35 years of age) and as a measure for a suitable screening tool that worked (better than maternal age, but not as diagnostically accurate as amniocentesis or CVS).
The rapid adoption of maternal serum screening tests into the obstetrics clinic and the pathology laboratory brought new health professionals into the prenatal diagnosis social world who problematised the abnormal fetal body rather than a rational decision-making individual. Thus, health professionals Chapter six: governing the maternal body page 388 working in the obstetrics clinic could treat the triple screen as just another prenatal blood test and defer genetic counselling until after the test produced a high risk result. Similarly, in their negotiations with government, pathology experts could exert different strategies for integrating these new technologies on the market within a range of other already existing blood tests in the laboratory.
Amniocentesis was the first genetic prenatal diagnosis test made available for women to govern themselves in an ethics of reproductive choice.
Although experts do the procedure and laboratory diagnosis, the linkages between these technologies and genetic counselling made them all technologies of the self, with which a woman could do the ethical work of governing fetal abnormality and her own (and others’) emotions. Medicine and government allowed CVS to became incorporated in the prenatal diagnosis standardised package as a second choice for a diagnostic test, when medical experts judged it as relatively safe, using amniocentesis as the benchmark or norm. Uncertainties over how equivalent it might be to amniocentesis were negotiated as negligible due to it being done at an earlier gestational age when there is a higher risk of spontaneous abortion. Some turned to amniocentesis as the benchmark again, when they sought to stabilise claims about the low risk of CVS using the transabdominal method of sampling, as this had been already established with amniocentesis. Claims about the risk of fetal limb abnormalities have also threatened perceptions about CVS as a low risk procedure. Experts resolved preliminary reports from individual clinics at international conferences and in the literature by instituting large-scale studies and by setting new boundaries on the ‘safe’ gestational period for taking a sample. Chapter six: governing the maternal body page 389
Abortion is another technology of the self produced by its association with other elements of the prenatal diagnosis standardised package—and in particular genetic counselling—that constructs the client as a genetically responsible decision-making individual. Moreover, at different times and in different socio-cultural spaces women have used abortion in a multiplicity of forms—some not even requiring an expert’s intervention. As an element within the prenatal diagnosis standardised package, it is performed within a medical clinic and with government’s legislative and financial support.
Within this assemblage, abortion has gained a new identity as ‘genetic termination’ of a ‘wanted baby.’ This, in turn, has helped to codefine the psychosocial model of genetic counselling and the problematisation of the rational individual. A role for genetic counselling thus has been extended beyond the abortion procedure itself. Another consequence has been that genetic termination support groups have been added to the prenatal diagnosis standardised package as another technology of the self.
6.5 Aims for governing the maternal body
The invention of genetic counselling in the 1940s was guided by the assumed aim of governing a genetic body. It served an explicitly stated additional aim for the health professional of avoiding a ‘eugenic’ identity. The health professional or scientist providing genetic counselling could protect their professional power and keep politics at a distance by using a construction of the clients as governing themselves. Medicine and science retained their authority over the genetic facts, and their autonomy from how those facts were used by the client and by government. The non-directive model of genetic counselling constructed the client as having a moral duty to make Chapter six: governing the maternal body page 390 genetically responsible decisions. For reproductive decisions, a normative assumption defined that duty in terms of the expected role of a future parent who cares for the child and family. By the 1960s a second—guidance—model of genetic counselling added the aim of short-term management of the client’s emotional responses to risk information.
However, the introduction of prenatal diagnosis in the 1970s as an assemblage that incorporated and, indeed, relied upon, genetic counselling, created the sociohistorical conditions for inventing and promoting the third— psychosocial—model of genetic counselling. The large-scale expansion of health professionals needed to provide genetic counselling about amniocentesis was met by the creation of a new health professional—the genetic counsellor—whose training included a significant component of psychological sciences. Eschewing medicine’s preferred descriptive term of
‘genetics associate,’ these new professionals preferred an identity as ‘genetic counsellor.’ It enabled them to benefit more from the role of genetic counselling as a boundary object, whose plasticity enabled it to cross professional boundaries yet still retain a common identity. Doctors (such as medical geneticists, obstetricians and general practitioners), scientists, genetic counsellors, nurses, and social workers and others have been able to adapt it to their local needs—even by shortening its name to
‘counselling’—yet maintain its identity through its positioning in the prenatal diagnosis standardised package.
The psychosocial model brought a significant change in the aim for governing the maternal body with the prenatal diagnosis standardised package. The emphasis shifted more firmly onto the second aim implied in genetic counselling’s name—government of a rational body through Chapter six: governing the maternal body page 391 managing the emotions. That aim became firmly established in the US from the mid-1970s, when genetic counsellors still were only relatively low in number. Factors other than the creation of genetic counsellors as a new health professional must be taken into account. One of particular significance appears to be the political sensitivities associated with abortion at that time in the US. The stability of abortion as an element within the prenatal diagnosis stabilised package came under threat by the controversies caused by conservatives and powerful religious groups struggling with (and within) government, medicine, feminists and others after the Roe v Wade decision in
1973 had liberalised access to abortion. Other factors appear to include the popular challenge to medical power that rose in the 1960s, and the rise of alternative models of medicine amongst which one specifically identified a psychosocial body to be governed, as well as the broad cultural appeal in the
US of new psychological theories and methods. Thus a complex network of social relations has served to support the psychosocial model of genetic counselling and to stabilise abortion’s position in the assemblage of elements of the prenatal diagnosis standardise package.
In the 1980s the aim of governing maternal rationality again came under threat with the invention and promotion of maternal serum screening tests. The medical and scientific experts who developed and promoted such tests used public health models for judging screening tests that ‘worked,’ which identified the fetus with a chromosomal abnormality as the part of the maternal body needing to be governed. When the triple screen was first introduced in the clinics I observed for this project, the genetic counsellors included it for discussion with the fetal anomaly ultrasound screening scan and the two diagnostic tests of amniocentesis and CVS. They thus treated it Chapter six: governing the maternal body page 392 as though it was a diagnostic test of high uncertainty but high safety.
However, with the widespread dissemination of the triple screen—for example, across whole populations of pregnant women—there simply were not enough genetic counsellors to continue this practice. Other health professionals could be trained to provide the specialised genetic counselling but they were unable to give as much time and attention to the aim of managing maternal rationality. Thus, institutional and professional barriers diverted attention to the fetal body with chromosomal abnormalities.
6.6 Chapter summary: An ethics of reproductive choice
I have described a complex of historical and social relations embedded in a standardised package of prenatal diagnosis that is in a continuing and dynamic state of formation and that articulates a multiplicity of ethical positionings about reproductive choice. From individual encounters between health professional and client in the clinic through to international relations between diverse individuals and groups of individuals, a pregnant woman’s access to information about genetic prenatal diagnosis and subsequent possible choices about its use have been made possible by knowledge claims and practices negotiated between medicine and government. But women are not simply victims to their disciplinary and regulatory power. Genetic counselling was invented as an ethical tool that drew on liberal individualism and psychology science to construct the client as an active participant in a decision-making process. The increasing feminisation of the workforce providing genetic counselling has further promoted pregnant woman’s autonomy as a rational decision-making individual, ahead of other ethical concerns about the social outcomes of such attitudes. Ironically, one of those Chapter six: governing the maternal body page 393 outcomes may be to reduce the number of girls being born after prenatal diagnosis.
Normative discursive practices permeate and problematise the assemblages of bodies, technologies and medico-scientific knowledge claims that do prenatal diagnosis work. In this socio-historical description of those assemblages, I have aimed to open the ‘grey’ box of the prenatal diagnosis standardised package in order to better understand the ways in which it uses normative and other discursive practices to produce and problematise particular forms of reproductive ethics. I have thus examined one set of everyday practices, which define concerns about how pregnant women should conduct themselves, in order to produce a ‘critical ontology’ that analyses the multiplicity of ways in which we understand ‘who we are, what we do, and the present in which we find ourselves’ (Mitchell 1997: 386-387). I have described present practices of aborting a fetus with Down syndrome in terms of how medicine and government positioned the new inventions of prenatal diagnosis techniques and technologies in the 1970s within a domain carved out by the intersecting disciplines of obstetrics and medical genetics science and medicine. Medical genetics contributed knowledge claims about genetic bodies and genetic counselling practices that problematised not only the genetic fetal body but, increasingly, also the rational maternal body whose emotions needed to be governed whilst negotiating decisions about risky technological interventions. Health professionals negotiated uncertainties about maternal serum tests for chromosomal abnormality in the fetus by constructing their identity as ‘screening’ tests. By equating them as an alternative to ‘advanced maternal age’—similarly constructed as a screening test—they could more easily let go of the call by some to provide Chapter six: governing the maternal body page 394 the expensive and scarce resource of in-depth genetic counselling before such a test. It would prove extremely difficult for medicine to convince government to make such large financial commitments in times of cutbacks and rationalisations of health services. However, this strategy enabled the retention and minor expansion of existing genetic counselling services and of its aim of governing the rational maternal body. Thus medicine and government have been able to continue to raise and seek to ameliorate the widely accepted anxieties about ‘eugenic’ practices of prenatal diagnosis and the wider arena of medical genetics.
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SCIENCE AND TECHNOLOGY STUDIES DEPARTMENT University of Wollongong Locked Bag 8844, South Coast Mail Centre NSW 2500 Ph: (042) 21.3691 Fax: (042) 213452 E-mail: [email protected]
You are invited to participate in a study of prenatal diagnosis, being done through the Department of Science & Technology Studies at the University of Wollongong.
The study will examine the aim of giving information about genetic disorders to patients so they can make independent choices. A detailed outline of the project is in the attached Information Sheet.
You were selected as a possible participant because you recently made an appointment for information about prenatal diagnosis. Dr xxxxx has agreed to forward this letter from me, and I have been given no information which would identify you.
I would like to ask you to consider taking part in this study. This will involve the researcher (myself) being present to observe your consultation with Dr xxxxx. If you agree, I may also ask you (and your husband/partner, if available) to agree to be interviewed, at a place and time convenient to you, before and soon after the consultation. You will also be asked to complete a questionnaire in the clinic just before your appointment—this should take about 10-15 minutes.
If you agree to participate, would you please complete the form below, detach it and post it immediately in the enclosed stamped addressed envelope
The results of the study will be published or disclosed to other people in a way that will not identify you. A copy of any reports prepared from this research will be available on request. Whether you take part in this study or not, it will not make any difference to the medical treatment you will receive in the clinic.
If you have any questions about this study, please phone me on (042) 21.3691. If I am not available, please leave a message so I can return your call as soon as possible.
Yours sincerely, Vivien Colless, M.A.(Hons), B.Sc(Hons) ……………………………………………………………………………………………………………
I, ……………………………………………………………………………… wish to take part in (please print name) the study of prenatal diagnosis.
Please contact me on phone number: ……………………………………………………………. and I can be contacted at these times: ……………………………………………………………
The date & time of my next appointment with Dr xxxxx is: ……………………………….. Appendix 2 page 396
The University of Wollongong Department of Science & Technology Studies INFORMATION SHEET Title of Project: The social context of prenatal diagnosis. Description of Project: This study examines the aim of giving information about prenatal diagnosis to patients so they can make independent choices. It will focus on information about prenatal diagnosis given to women of “advanced maternal age” and to their husband/partner. However, it will also include other medical genetics clinics. By analysing how prenatal diagnosis is understood by both the users and providers of these services, this study will address important social and ethical questions about the content and/or use of medical knowledge and techniques. For example, should the doctor avoid guiding a family in its decision-making and how do the doctor and family members negotiate this aim during the consultation? How is this aim affected by the content of medical facts discussed during the consultation, by the process of the consultation itself and by choices “built in” to the different prenatal diagnosis techniques themselves. At selected clinics, and with the consent of all participants, the researcher will observe interactions between the doctor and the pregnant woman (and her husband/partner, if present) when they first meet to discuss the prenatal diagnosis procedure. The analysis will be supported by interviews and questionnaires with the consent of patients at selected clinics. Throughout this study the anonymity of all participants will be closely protected. Written reports will not identify the participants, the location of the clinics or other associated services. Any identifying information will be stored securely until the end of the data collection stage, when it will be destroyed. Approval for this research project has been granted by the University of Wollongong Human Experimentation Ethics Committee and the xxxxx Area Health Service Ethics Committee. Participants will be able to withdraw from this project at any time. I am happy to discuss any aspect of this project in greater detail with you, and to answer any questions you may have. A copy of any reports prepared for this project will be available on request.
Vivien Colless, M.A.(Hons), B.Sc (Hons) mail address: Department of Science & Technology Studies, University of Wollongong. Locked Bag 8844, South Coast Mail Centre. 2500 phone: (042) 21.3691 (dept office) (042) 83.4626 (message) Appendix 3 page 397
The University of Wollongong Department of Science & Technology Studies CONSENT FORM Project: The Social Context of Prenatal Diagnosis You are invited to participate in a study of decision-making about prenatal diagnosis, being done through the Department of Science & Technology Studies at the University of Wollongong. The purpose of this study is to examine the process of giving information about prenatal diagnosis to patients so they can make independent choices. A detailed outline of the project is in the attached Information Sheet. You were selected as a possible participant in this study because you have made an appointment for a consultation with Dr xxxxx for information about prenatal diagnosis. If you decide to participate, the Investigator (Ms Vivien Colless) will (delete any if inapplicable): • observe and take notes during your consultation with the doctor or genetic counsellor today • tape-record all, or part of, the consultation process About ten patients and their husband/partner (if available) will also be asked to participate further. If you are selected and decide to participate, the Principal Investigator will: • interview you (at a time and place convenient to you) before and after your consultation with the doctor or genetic counsellor • tape-record all, or part of, the interview. It is anticipated that a period of 3 months will be required for data collection. However, your participation should take only a minimum of about 1 hour (observation of the consultation) to a maximum of a few hours over a 2-week period (if you are also interviewed). You may feel uncomfortable because of the presence of a researcher during the consultation. However, any information about you that is obtained in connection with this study will remain confidential and will be disclosed only with your written permission. The results of the study will be published or disclosed to other people in a way that will not identify you. Any risk of breach of confidentiality of information is extremely low. For this research project, confidentiality will be protected by allocating pseudonyms to all participants. Identifying information, such as in field notes, tape recordings and transcripts of selected dialogue will be stored securely in accordance with the National Health and Medical Research Council Statement on Scientific Practice (November, 1990). We cannot and do not hold out that you will receive any benefits from this study. A copy of any reports prepared from this research will be available on request. You may choose not to participate in this research project. If you do decide to take part in the study, you can still pull out at any time. Appendix 3 page 398
The University of Wollongong Department of Science & Technology Studies Project: The Social Context of Prenatal Diagnosis Page: 2 of 2 Whether you take part in this study or not, it will not make any difference to the medical treatment you will receive in the clinic. If you have any questions about, or problems with, the way this study is carried out, you can contact Ms Kim Roser, Graduate Office, University of Wollongong (phone (042) 21.3079). You will be given a copy of this form to keep.
Certification by Investigator I hereby certify that I have disclosed the risks that may be involved, in terms readily understood by the patient
Date Signature of Investigator
Certification and Consent by Patient I hereby certify that I have read and understood all the information provided, have been given the opportunity to ask any questions and agree to participate in the research proposal described above.
Date Signature of Patient
Signature of Witness: Nature of Witness:
Revocation of Consent by Patient I (please print name) hereby wish to WITHDRAW my consent to participate in the research proposal described above and understand that such withdrawal WILL NOT jeopardise any treatment or my relationship with Dr Robertson. The section for revocation of consent by the patient should be forwarded to: Ms Vivien Colless Department of Science & Technology Studies University of Wollongong Locked Bag 8844 South Coast Mail Centre. 2500 Appendix 4 page 399
The University of Wollongong Department of Science & Technology Studies
CONSENT FORM Project: The Social Context of Genetic Counselling for Prenatal Diagnosis PURPOSE I would like permission to enrol you as a participant in a study of genetic counselling for prenatal diagnosis, being done through the Department of Science & Technology Studies at the University of Wollongong. The purpose of this study is to examine the process of giving information about prenatal diagnosis to patients so they can make independent choices. A detailed outline of the project is in the attached Information Sheet. PROCEDURE You were selected as a possible participant in this study because you are associated with the provision of prenatal diagnosis services. If you decide to participate, the Investigator (Ms Vivien Colless) will (delete any, if inapplicable): a) Subject to your prior consent, take notes from and/or tape record: i) the whole, or part, of prenatal diagnosis genetic counselling sessions, ii) pre- and post-clinical discussions amongst health professionals, iii) other day-to-day routines in the clinic for prenatal diagnosis genetic counselling. b) Subject to your prior consent, interview you. Interviews will be tape recorded and will be at times convenient to yourself. Patients and their families using prenatal diagnosis genetic counselling services will participate in the following way (delete any if inapplicable): • All patients and their partner (if present) attending your rooms for a consultation about prenatal diagnosis on a previously selected day during the period of data collection will be asked to complete a questionnaire immediately before their consultation. • Patients (and their partner, if present) will be asked to consent to the presence of the Investigator during the whole, or part, of selected prenatal diagnosis genetic counselling sessions. • A small sample of patients and their partner (if available) will be asked to consent to be interviewed before and after their genetic counselling session. These interviews will be tape recorded, if their consent is given It is anticipated that a period of 3 months will be required to complete all data collection for the research project. RISKS AND DISCOMFORTS You may feel uncomfortable because of the presence of a researcher during the consultation. However, any information about you that is obtained in connection with this study will remain confidential and will be disclosed only with your written permission. The results of the study will be published or disclosed to other people in a way that will not identify you. Any risk of breach of confidentiality of information is extremely low. For this research project, confidentiality will be protected by allocating pseudonyms to all participants. Identifying information, such as in field notes, tape recordings and transcripts of selected dialogue will be stored securely in accordance with the National Health and Medical Research Council Statement on Scientific Practice (November, 1990). Appendix 4 page 400
BENEFITS I hope that this research will be able to report on ethical and social concerns about the aim of non-directive genetic counselling for prenatal diagnosis. However, I cannot and do not hold out that you will receive any benefits from this study. A copy of any reports prepared from this research will be available on request. ALTERNATIVE PROCEDURES You may choose not to participate in this research project. If you do decide to take part in the study, you can still pull out at any time. If you have any questions about, or problems with, the way this study is carried out, you can contact Ms Kim Roser, Graduate Office, University of Wollongong (phone (042) 21.3079).You will be given a copy of this form to keep. Certification by Investigator I hereby certify that I have disclosed the risks that may be involved, in terms readily understood by the patient
Date Signature of Investigator
Certification and Consent by Provider of Genetic Counselling Services I hereby certify that I have read and understood all the information provided, have been given the opportunity to ask any questions and agree to participate in the research proposal described above.
Date Signature of Subject Signature of Witness: Nature of Witness: REVOCATION OF CONSENT BY SUBJECT I (please print name) hereby wish to WITHDRAW my consent to participate in the research proposal described above. The section for revocation of consent by the patient should be forwarded to: Ms Vivien Colless Department of Science & Technology Studies University of Wollongong Locked Bag 8844 South Coast Mail Centre. 2500 Appendix 5 page 401
Interview Guide/Prompts
• How did you come to do genetic counselling for prenatal diagnosis? ÿ What previous education/training did you have? ÿ What previous training have you had in genetic counselling? ÿ When/where did you begin working in genetic counselling work begin?
• What are the different kinds of activities you do in a typical working week?
• How is your clinic organised for genetic counselling about prenatal diagnosis? ÿ What is your role? ÿ Who else do you work with? ÿ Who else does genetic counselling? ÿ How are women referred to the clinic? ÿ How long are genetic counselling sessions?
• How do you do genetic counselling?
• What are your views on genetic counselling? ÿ What makes a ‘good’ genetic counsellor for prenatal diagnosis? ÿ How important is it to be ‘non-directive’ when doing genetic counselling? ÿ Do you have any views on the training and role of different health professionals who do genetic counselling?
• What are your views on the different prenatal diagnosis technologies? ÿ How safe are they? ÿ What about their efficacy? ÿ Are there any controversies about the technologies? ÿ What are your views on maternal serum screening? ÿ How reliable do you think the facts are that you give in genetic counselling?
• What ethical issues in your work are important to you?
• Do you have any other comments or questions? Appendix 6 page 402
Appendix 6: Negotiating Intitutional Ethics Committees (IECs): Empirical Research as ‘Science’ and the Changing Role of IECs in Australia
The National Bioethics Consultative Committee (NBCC), formed in the
1980s, had been involved in controversies over new reproductive technologies (such as IVF), resulting in the role of medical IECs coming under review in the late 1980s (NHMRC Medical Research Ethics Committee
1991). Furthermore, the NBCC was dissolved in the early 1990s, in conjunction with a review of the National Health and Medical Research
Council (NHMRC) and new legislation in 1992 that established the NHMRC as a body corporate, with the new Australian Health Ethics Committee
(AHEC) as one of its committees. New guidelines for IECs also were issued in
1992 (NHMRC 1992). My first ethics application, made in May 1992, was evaluatedby my university’s IEC in terms of earlier guidelines (NHMRC
1998), 1 whilst later applications to other IECs were evaluated in terms of the new guidelines (NHMRC 1992). The new guidelines retained much of the old, but broadened the boundaries of the ethics arena by requiring all research involving human subjects to be under the surveillance of an IEC that was required to follow the NHMRC guidelines. The changes described above resulted in medicine gaining a stronger dominance in the government of ethical judgements. However, medical dominance was tempered by the greater heterogeneity of actors within the enlarged ethics arena (especially those in the humanities disciplines). The entry of new social worlds into the
1 The first Statement on Human Experimentation was published in 1966 in response to the World Medical Association’s Declaration of Helsinki of 1964 (NHMRC 1999: Prfeamble). Appendix 6 page 403 arena changed the methods discourse from one about ‘science’ to that of
‘research’, and it became increasingly difficult to use a methods discourse about science for legitimating judgements about ethics.2
To describe these changes in greater detail, it is necessary to firstly examine how both the 1987 and 1992 guidelines considered that ethical evaluations should include judgements about good science, stating that ‘(t)he research must conform to generally accepted moral and scientific principles’(NHMRC 1992: 2; NHMRC Medical Research Council 1991:2). A detailed description of the NHMRC’s judgement of those principles that guided good scientific method (NHMR 1990) had been published after the
1987 and before the 1992 guidelines, although it was not specifically referred to in the new guidelines. The Statement of Scientific Practice largely dealt with data storage, publication, supervision, conflicts of interest and procedures for dealing with ‘departures from sound scientific practice’ that ranged from ‘honest errors and various manifestations of carelessness’ to
‘scientific misconduct and fraud’ (NHMRC 1990: 4). It took a positivist position that aimed to ensure ethical ‘good science’ in terms of maintaining social factors as external to the truth claims generated, and ‘bad science’ in terms of contamination by the social. For example, it stated that:
The processes of scientific research protect the truth. Communication between collaborators; maintenance and reference to scientific records; presentation and discussion of work at scientific meetings; publication of results, including the important element of peer refereeing; and the possibility that investigations will be repeated or extended by other scientists, all contribute to the intrinsically self-correcting nature of science. … However, competitive pressures can act to distort sound research practice (NHMRC 1990: 1).
2 There were many working in health research who continued to use science as a legitimatory tool, but who argued for greater heterogeneity in definitions of scientific method (Morrigan 1998). Appendix 6 page 404
However, shortly afterwards, the NHMRC published a report on extensive national consultations about IECs that noted agreement on the following:
‘The definition of “scientific merit” was difficult, for example, a scientifically valid project in eugenics is not good science.’ Nevertheless, without defining what was considered ‘scientifically valid,’ it concluded:
It is the view of MREC (Medical Research Ethics Committee— the earlier committee of the NHMRC) that research on human subjects which is trivial or is not designed to produce a scientifically valid answer is using those subjects in an unethical way. Therefore it is necessary that an IEC be satisfied that all proposals address questions of scientific merit.’ (NHMRC Medical Research Ethics Committee 1991: 4-5).
More recently, new and much more comprehensive guidelines have been negotiated amongst a wide range of actors in the arena of research ethics that include the sciences, social sciences, humanities, and engineering.3 As a result, medicine and government (through the NHMRC) gained authority over all research on humans, stating that it now:
requires all institutions or organizations that receive NHMRC funding for research to establish a Human Research Ethics Committee (HREC) and to subject all research involving humans, whether relating to health or not and whether funded by the NHMRC or not, to ethical review by that committee. … Accordingly, this Statement is recommended for use by any individual, institution or organization conducting research involving humans as an inclusive, reliable and informative guide to the ethical considerations relevant to the review of that research. This would include any research involving humans undertaken by industry (NHMRC 1999: Preamble)
The changed power relations was written into the change of name of the relevant ethics committees, moving from an institutional focus (IEC) to one
3 The Australian Vice-Chancellors’ Committee, Australian Research Council, Australian Academy of the Humanities, Australian Academy of Science, and Academy of the Social Sciences in Australia all ‘endorsed’ the guidelines, while the Academy of Technological Sciences and Engineering were noted to have ‘supported’ them (NHMRC 1999: Front Matter). Appendix 6 page 405 on the human body (HREC).
Again, little elaboration of a model of ‘science’ was given, apart from a short paragraph taking a utilitarian position on ‘ethics and science in research’ that stated:
Projects without scientific merit are wasteful of resources and needlessly subject participants to risks. Accordingly, an essential condition of the ethical acceptability of research is the determination that the scientific quality of a proposal and the skill and experience of the researchers are such that the objectives of the proposal can reasonably be expected to be achieved (NHMRC 1999: Preamble).
Instead, a major part of the guidelines was devoted to defining ‘research’ methods and the roles of an HREC. Here, a more relativist position was taken, when the NHMRC conceded:
There are many definitions of research. These include systematic investigation to establish facts, principles or knowledge and a study of some matter with the objective of obtaining or confirming knowledge. A defining feature of research is the validity of its results. The knowledge that is generated by research is valid in the sense that what is discovered about the particular facts investigated can be justifiably claimed to be true for all like facts. However, it remains difficult to find an agreed definition of research (NHMRC 1999: Preamble).
Accordingly, the NHMRC refrained from specifying HREC regulatory activity in terms of a unified definition of research method. Instead, it turned to traditional bioethical principles. It sought to define ‘the features of human involvement’ and their ‘potential for infringing basic ethical principles, at least respect for humans, beneficence and justice’ (NHMRC 1999: Preamble).
With a lack of consensus on a definition of scientific or research method this arm of government therefore resorted to using widely accepted bioethical principles based on abstract and prescriptive moral codes. However, the Appendix 6 page 406
NHMRC has also shown it can be influenced by other disciplinary frameworks.4
* * * *
4 For example, a more recent NHMRC publication on the ethics of genetic testing considered ethics not only in relation to abstract notions of confidentiality and consent, but also in relation to social relations that included economics and the body, both as an individual and a collectivity (part of a family), and more concrete activities and objects such as knowledge claims, technologies and techniques. It was written by a small group of actors from the intersecting social worlds of medical genetics, genetic epidemiology, philosophy, and medical ethics and disability studies (NHMRC 2000). Relevant Committees in Commonwealth Department of Health and Ageing
Executive
Portfolio Population Health Office for Ageing & Health Industry Business Audit & Strategies Health Services Aboriginal & Aged Care & Investment Group Fraud Division Division Division Torres Strait Division Division Control Islander Health National Health & Medical Therapeutic Goods Health Access & Research Administration Financing Division Council
Medicare Diagnostics 5 other Branches Benefits & Technology or groups Branch Branch
Pathology 3 other Technology Section Sections Section
AHEC HAC 2 other 5 other TDEC TGC NCCTG OGTR NPAAC PCC PSTC QUPC MSAC Committees Committees
Sources: HAFD (2002c), NHMRC (2002), TGA (2002) Key to Committees Listed in Appendix 7 page 408
Abbreviation Name of Committee Function of Committee
AHEC Australian Health Ethics Advises NHMRC on ethical issues Committee relating to health; develops guidelines for conduct of medical research involving humans; promotes community debate on health ethics issues; monitors human research ethics committees; monitors and advises on international developments in health ethics.
HAC Health Advisory Overarching committee of NHMRC; Committee manages and coordinates health advice to meet the NHMRC aim of leading national debate.
MSAC Medicare Services Advises Minister on evidence relating to Advisory Committee safety, effectiveness and cost- effectiveness of new medical technologies; informs government on which medical services should attract funding under the MBS.
NCCTG National Co-ordinating Coordinates legislative and Committee on administrative controls on therapeutic Therapeutic Goods goods and poisons; make recommendations to the AHMAC as necessary.
NPAAC National Pathology Advises Federal and State Accreditation Advisory governments on accreditation of Council pathology laboratories.
OGTR Office of the Gene Provides administrative support to the Technology Regulator Gene Technology Regulator for regulating genetically modified organisms in Australia, to protect the health and safety of humans and environment.
PCC Pathology Consultative A forum in which the government and Committee pathology professions can discuss strategic issues relating to the provision and financing of pathology services. Key to Committees Listed in Appendix 7 page 409
Abbreviation Name of Committee Function of Committee
PSTC Pathology Services Makes recommendations to the Table Committee government on pathology services that should attract funding under the MBS, and their fees and conditions of use.
QUPC Quality Use of Pathology Oversees the Quality Use of Pathology Committee Program, which aims to develop strategies to improve health and economic outcomes of pathology in health care, through better practice amongst requesters and providers of pathology.
TDEC Therapeutic Device Advises Minister or department about Evaluation Committee safety, quality, efficacy, use, and availability of therapeutic devices, and their import into, export from, and production and distribution within Australia; provides advice on policy matters and technical issues.
TGC Therapeutic Goods Advises Minister on standards for Committee therapeutic goods, including labelling and packaging, and on principles to be observed in manufacture of therapeutic goods for use in humans.
Sources: HAFD (2002c), NHMRC (2002), TGA (2002) Appendix 8 page 410
Medicare Services Advisory Committee (MSAC) Membership as at June 2002
Name Description
Dr Stephen Blamey (Chair) General surgeon, public and private practice in Melbourne, specialising in gastro-intestinal surgery, endoscopy and laparoscopic surgery; member of senior medical staff, Monash Medical Centre; operates a day endoscopy hospital.
Professor Bruce H Chairman, Australian Council for Safety and Barraclough Quality in Health Care; Vice Chairman, Committee of Presidents of Medical Colleges; Chairman, Board of the Institute of Clinical Excellence in NSW; Chairman, NSW State Cancer Council’s Cancer Control Network; immediate Past President, Royal Australasian College of Surgeons; Professor & Director of Cancer Services, Northern Sydney Area Health Service, and Faculty of Medicine, University of Sydney; interests in endocrine surgery.
Professor Syd Bell Area Director, Microbiology, South East Sydney Area Health Service; past Director, Area Pathology Service; Federal Government’s pathology advisor to the Pathology Services Table Committee.
Dr Paul Craft Medical oncologist, public & private practice; Director, Medical Oncology Unit, Canberra Hospital; past member, Council of the Australian Cancer Society, & Scientific Subcommittee, Consultative Committee in Diagnostic Imaging; has conducted research in cancer medicine, in patterns of treatment and guideline implementation.
Professor Ian S Fraser Professor in Reproductive Medicine, University of Sydney, and Head, Department of Reproductive Endocrinology and Infertility, Royal Prince Alfred Hospital; past President, Royal Australian and New Zealand College of Obstetricians and Gynaecologists; currently on the Executive Board, International Federation of Obstetrics and Gynaecology; and has wide-ranging clinical and research interests within reproductive medicine. Appendix 8 page 411
Medicare Services Advisory Committee (MSAC) Membership (continued)
Name Description
Dr Jane Hall Founding Director, Centre for Health Economics Research and Evaluation (CHERE); Medical Foundation Fellow & Professor, Faculty of Business, University of Technology, Sydney; advisor to NSW & Commonwealth governments; member, Australian Medical Workforce Advisory Committee; Commonwealth Fund’s Harkness Fellowship Representative in Australia.
Dr Terri Jackson Senior Research Fellow, Monash University Health Economics Unit, & Manager, Hospital Services Research Group (HSRG); major research interests in technical efficiency of provision of hospital-based care and funding systems which use casemix adjustment (eg, cost effectiveness of appendicitis management, PET scanning for several cancers, & alternative approaches to management of miscarriage).
Ms Rebecca James An independent consumer representative, with a background in health policy and public management from working in senior positions in government and the private sector; has a particular interest in cancer and neurosciences.
Professor Brendon Kearney Executive Director—Statewide, Department of Human Services; formerly Chief Executive Officer, Royal Adelaide Hospital and Director, Institute of Medical and Veterinary Science; wide experience in health administration, having been Chairman, South Australian Health Commission and Chair, Australian Health Technology Advisory Committee; has been involved in reviews of health services in most States, and produced the blueprint for Management of Elective Surgery in South Australia, and established the Superspecialty Services Guidelines System in Australia.
Mr Alan Keith Assistant Secretary, Diagnostics and Technology Branch, Commonwealth Department of Health and Ageing.
Dr Richard King Consultant gastroenterologist; Head, General & Emergency Medicine, Southern Health Care Network in Victoria; past Chair, Ministerial Inquiry into Cardiac Services in Victoria; past member, Medicare Benefits Advisory Committee. Appendix 8 page 412
Medicare Services Advisory Committee (MSAC) Membership (continued)
Name Description
Dr Ray Kirk Foundation Director, New Zealand Health Technology Assessment Unit; clinical Senior Lecturer, Public Health, Christchurch School of Medicine and Health Sciences; member, Board of Directors, International Network of Agencies for Health Technology Assessment (INAHTA); member, Community and Public Health Committee, Canterbury District Health Board; experience in health services research and evaluation, health technology assessment.
Dr Michael Kitchener Fellow, Royal Australasian College of Physicians, specialising in nuclear medicine; past President, Australian and New Zealand Association of Physicians in Nuclear Medicine; co-opted member, Management Committee of Australian Safety and Efficacy Register of New Interventional Procedures—Surgical (ASERNIP—S); past member, Consultative Committee on Diagnostic Imaging.
Mr Lou McCallum Chairperson, Consumers’ Health Forum of Australia; policy resource co-ordinator, Australian Council of Social Service; long-standing consumer advocate in AIDS non-government organizations in Australia.
Professor Peter Phelan Emeritus Professor of Paediatrics, University of Melbourne; Adjunct Professor, Faculty of Health Sciences, Latrobe University; past Chairman, Committee of Presidents of Medical Colleges; past President, Australian College of Paediatrics; past member, Australian Casemix Clinical Committee; member, other national and Victorian committees on health care; research & teaching interests in asthma & cystic fibrosis.
Dr Ewa Piejko General Practitioner, western suburbs of Melbourne; Honorary Treasurer, Victorian Faculty, Royal Australian College of General Practitioners; an examiner, Fellowship of the Royal Australian College of General Practitioners. Her interests include medical education, standards, and health promotion. Appendix 8 page 413
Medicare Services Advisory Committee (MSAC) Membership (continued)
Name Description
Professor John Simes Director, National Health and Medical Research Council (NHMRC) Clinical Trials Centre, Sydney; a clinical epidemiologist at the Department of Public Health and Community Medicine, the University of Sydney; and an academic consultant at Royal Prince Alfred Hospital; member of many international committees planning clinical research trials; teaches in clinical epidemiology and practices medical oncology.
Professor Richard Professor of Medicine, University of Melbourne; Smallwood Commonwealth Chief Medical Officer; Chair, National Health Information Management Advisory Council and the National Health Priority Action Council; past Deputy President, World Health Assembly, Geneva; past Head, Department of Medicine and Chairman, Division of Medicine, and Director, Gastroenterology, Austin and Repatriation Medical Centre; past President, Royal Australasian College of Physicians; past Chair, National Health and Medical Research Council.
Dr Robert Stable Chair, AHMAC (Australian Health Ministers’ Advisory Council); Director-General of Queensland Health; Fellow, Royal Australian College of General Practitioners, Royal Australian College of Medical Administrators, Australian College of Health Service Executives, Australian Institute of Management; Adjunct Professor, University of Queensland and James Cook University.
Professor Bryant Stokes A neurosurgeon in private practice; Senior Neurosurgeon, St John of God Hospital, Subiaco and Royal Perth Hospital; Clinical Associate Professor (Neurosurgery), University of Western Australia; member, National Expert Advisory Group on Safety and Quality in Australian Health Care; member, Royal Australasian College of Medical Administrators; Associate Fellow, Australian College of Health Service Executives; past President, AMA (WA Branch); past President, Neurosurgical Society of Australasia. Appendix 8 page 414
Medicare Services Advisory Committee (MSAC) Membership (continued)
Name Description
Professor Ken Thomson Director, Radiology, Alfred Hospital, Melbourne; foundation member, Society of Minimally Invasive Therapy, and the Interventional Radiology Society of Australasia; member of Council, Royal Australian & New Zealand College of Radiologists. He has research interests in vascular stents, endografts and therapeutic embolic agents.
Dr Doug Travis Urologist in private practice, western suburbs of Melbourne; Head and VMO, Urology Unit; consultant for 11 years.
Source: MSAC (2002) page 415
Glossary
AAAS American Association for the Advancement of Science
AACG Australasian Association of Clinical Geneticists
AAPP Australian Association of Pathology Practices
AASW Australian Association of Social Workers
ABGC American Board of Genetic Counseling
ABMG American Board of Medical Genetics
ABS Australian Bureau of Statistics
ACMG American College of Medical Genetics
ACOG American College of Obstetricians and Gynecologists
AGNC Association of Genetic Nurses and Counsellors
AGSA Association of Genetic Support Australasia
AHTAC Australian Health Technology Advisory Committee, Commonwealth Department of Health and Family Services
Alphafetoprotein (AFP) A compound identified as a protein product of the fetal liver that begins to be detected at about 6 weeks of gestation. It is increasingly produced until about 13 weeks, after which its production steadily falls. Able to cross the placenta into the maternal bloodstream (see MSAFP).
AMA American Medical Association
AMCHP Association of Maternal and Child Health Programs Glossary page 416
Amniocentesis A technique for extracting amniotic fluid from a pregnant woman’s womb. It is commonly used for analysing fetal products in order to diagnose fetal abnormality, many of which are identified as genetic in origin.
Anencephalic fetus An absence of the brain and spinal cord in the fetus, with the head open and the spinal area converted into a groove.
ANZAAS Australian and New Zealand Asociation for the Advancement of Science
APHA American Public Health Association
Arena A site for political activity involving actors in its constituent social worlds.
ASC Australian Society of Cytogeneticists
ASGC Australasian Society of Genetic Counsellors
ASHG American Society of Human Genetics
Atlantoaxial instability Abnormalities of the upper spine in the neck region
Autosome Any of the 22 chromosomes that is not a sex (X or Y) chromosome, of the total complementof 24 chromosomes in a human cell.
Black box Knowledge claims that have become established and unquestioned as objective fact, stripped of social relations (this term can also be a verb, describing the action of constructing such knowledge claims).
Boundary object Objects (either material or discursively constructed) located within a space formed by intersecting social worlds. Their identity may differ for actors in different social worlds, where they are adapted for local use, but is sufficiently coherent to enable a common identity for actors across social worlds.
BSHG British Society of Human Genetics Glossary page 417
Cataracts Opacity of parts of the eye causing blindness
CCDI Consultative Committee on Diagnostic Imaging
Cystic fibrosis (CF) An hereditary disorder of glands affecting the pancreas, respiratory system, and sweat glands. Usually begins in infancy. No known cure and death occurs within the first four decades of life.
CHF Consumer Health Forum
Chiasmata (singular chiasma; The points where the arms of chromosomes from the Greek letter chi—C) cross over and, thus, can exchange genetic material.
COMGENS Council of Medical Genetics Societies
Congenital Adjective used to describe abnormalities detected at birth.
CORN Council of Regional Networks for Genetic Services
Chorionic villus sampling A technique for extracting placental tissue (CVS) in order to diagnose genetic abnormalities in the fetus.
Cystic fibrosis (CF) An hereditary disorder of glands affecting the pancreas, respiratory system,and sweat glands. Usually begins in infancy. No known cure and death occurs within the first four decades of life.
DHAC Commonwealth Department of Health and Aged Care
DHFS Commonwealth Department of Health and Family Services
DHHLGCS Commonwealth Departmentof Health, Housing, Local Government and Community Services
Discourse A field of interconnected statements whose formation is unique to particular times and social practices. Glossary page 418
DIST Department of Industry, Science and Technology
DoE Department of Energy
Down syndrome (DS) A form of mental retardation present from birth. Associated with a characteristic physical appearance and identified cytogenetically by the presence of a third chromosome (trisomy 21)
DU Dating ultrasound
Duodenal atresia Closure of part of the small intestine.
EDB Estimated date of birth
ELSI Ethical, Legal and Social Implications program of the Human Genome Project
Endocardial cushion defects Abnormalities of an internal structure of the heart
Epilepsy Recurrent episodes of abnormalities of consciousness, movement or sensation (eg, convulsive seizures).
ERO Eugenics Records Office
Ethics Ethical practices (both discursively and actually performed) that refer to particular moral rules or codes.
FASTS Federation of Australian Scientific and Technological Societies
FDA Food and Drug Administration
Governmentality A socio-historical space of social relations in which people reflect and act on both others and on themselves. It includes ways of thinking and acting in the political arena.
GP Medical general practitioner
HAFD Health Access and Financing Division, Commonwealth Department of Health and Aged Care
HGSA Human Genetics Society of Australasia Glossary page 419
Human chorionic A hormone produced by the fetus and able gonadotrophin (hCG) to cross the placenta into the maternal bloodstream.
Huntington disease (HD) An hereditary disorder of the central nervous system causing progressive dementia and involuntary movements. Usually begins to manifest between 30 to 50 years of age. No known cure and death occurs within about 15-20 years.
IFHGS International Federation of Human Genetics Societies
ISONG International Society of Nurses in Genetics
JAMA Journal of the American Medical Association
Karyotype An artefact produced in a laboratory, using any of a range of standardised cytogenetic techniques to visualise chromosomal material in biological samples—usually in the form of photographs in which the chromosomes have been rearranged into a hierarchical order based on chromosomal size and sex determinants
Hypothyroidism Abnormally low production of thyroid that causes reduced energy levels and intellectual disability.
Leukemia A range of diseases characterised by abnormally raised levels of white blood cells.
Maternal serum alpha- AFP (see above) found in serum extracted fetoprotein (MSAFP) from maternal blood.
MBCC Medicare Benefits Consultative Committee
MCH Office of Maternal and Child Health
Meiotic recombination Exchange of genetic material during division of reproductive cells that produces egg or sperm cells.
MJA Medical Journal of Australia
MRC Medical Research Council Glossary page 420
MSAC Medicare Services Advisory Committee
NCBI National Center for Biotechnology Information
NESB Non-English speaking background
Neural tube defect (NTD) A group of anomalies affecting the formation of the brain and spinal cord (anencephaly, spina bifida, encephalocoele), and present at birth.
NIH National Institutes of Health
NHMRC National Health and Medical Research Council
NHS National Health Service
Normalisation Modes of social relations that construct standards against which individuals measure, judge, and modify their appearance and actions.
NPAAC National Pathology Accreditation Advisory Council
NRT New reproductive technology
NSGC National Society of Genetic Counsellors
NSQAC National Specialist Qualification Advisory Committee
NSW New South Wales
NSWGSAC New South Wales Genetics Service Advisory Committee
NUD•IST ‘Non-numerical Unstructured Data Indexing Searching and Theorizing’—computer software program produced by Qualitative Solutions and Research Pty Ltd., La Trobe University. Vic. Australia
OLL Oliver Latham Laboratory
OMIM Online Mendelian Inheritance in Man Glossary page 421
Ovulation The formation of the female reproductive cell or egg.
Phenomenology A school (or schools) of sociology derived from phenomenological philosophy that aims to describe and analyse everyday practices.
Phenylketonuria (PKU) A form of mental retardation attributed to the lack of an enzyme involved in the metabolism of the amino acid phenylalanine. A phenylalanine free diet can prevent mental retardation if begun early in life.
Polycystic kidney disease Causes loss of kidney function. Average age (PKD) of onset is about 40 years.
Prenatal diagnosis package A fluid and heterogeneous assemblage of bodies, knowledge claims, techniques and technologies for carrying out an individual act of prenatal diagnosis. It includes prenatal screening tests (eg, ‘advanced maternal age’, maternal serum screening tests, ultrasound) and diagnostic procedures (eg, amniocentesis and CVS—chorionic villus sampling), genetic counselling, laboratory techniques and technologies that produce representations of the body such as the karyotype, abortion procedures, and genetic support groups. It is like a boundary object, in that it can facilitate work across different social worlds, but it can more strongly stabilise knowledge claims as ‘fact’ because of its constituent standardised methods and boundary objects.
Presenile dementia Loss of intellectual abilities in middle age.
PSTC Pathology Services Table Committee
RACP Royal Australian College of Physicians
RANZCOG Royal Australian and New Zealand College of Obstetricians and Gynaecologists
RCOG Royal College of Obstetricians and Gynaecologists Glossary page 422
RCPA Royal College of Pathologists of Australasia
Real time ultrasound The data is processed and reported at the same rate as it is collected. Hence the image is continually renewed to accommodate movements of the body.
Rh factor A protein on the surface of red blood cells. Erythroblastis fetalis—a range of mild to severe effects (jaundice, anemia, edema, death)—is attributed to Rh incompatibility between a woman (Rh-negative) and her fetus (Rh-positive).
SCOHM Standing Committee of the Health Ministers
Sickle cell anemia Characterised by painful swelling of hands and feet, and by infection. Attributed to an abnormality of a blood protein— hemoglobin—causing red blood cells to form a sickle shape, aggregate and block small blood vessels.
Social world A dynamic collectivity of the following elements: activities, sites, technologies, and organizations. The people within a social world share similar goals, resources, and concepts for doing their work.
Spina bifida An abnormality of the walls of the spinal canal due to lack of union between parts of the vertebrae, mainly affecting the lower part of the spine.
Standardised package An assemblage of boundary objects and standardised techniques that acts more strongly than boundary objects alone in stabilising knowledge claims as fact, and that facilitates actors to work and enrol others across social worlds.
Symbolic interactionism A sociological theory of human action as interaction, based on the pragmatist and interactionist philosophical traditions of the Chicago school, especially the work of John Dewey and George H Mead. Glossary page 423
Tay Sachs disease Affects mobility of infants from about 6 months, progressively causing blindness, paralysis and loss of awareness. Death occurs by the age of about 4 years.
Technology of the self Instruments and techniques for individuals to act upon themselves to do ethical work.
Technoscience Scientific knowledge claims and activities and their technologies and techniques.
TGA Therapeutic Goods Administration, Commonwealth Department of Health and Aged Care (Australia)
Trisomy Three copies of at least one chromosome identified in a human cell.
Trajectory A description of both the interactions between agents of change that shape a changing pathway for their work, and the path of change itself over time.
UK United Kingdom
Ultrasound A technology (and the form of energy it produces) that uses high frequency sound waves to make images of bodily components (eg, fetus, solid organs, soft tissue, and blood flow).
US United States of America
WHO World Health Organization
* * * * * Bibliography page 424
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