Social Science & Medicine 72 (2011) 1760e1767

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Social Science & Medicine

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Exploring genetic responsibility for the self, family and kin in the case of hereditary raised cholesterol

Kate Weiner*

Institute for Science and Society, Law and Social Sciences Building, Universtiy of Nottingham, University Park, Nottingham NG7 2RD, United Kingdom article info abstract

Article history: This paper explores the notion of genetic responsibility, i.e. the responsibility to know and manage one’s Available online 13 May 2010 own genome for oneself and the sake of others, focusing particularly on responsibilities to family and kin. It also considers wider ideas about the emergence of new forms of biological subjectivities with which Keywords: the concept of genetic responsibility is associated. The paper draws on a UK-based study concerned with Heart disease lay constructions of familial hypercholesterolaemia (FH), a treatable inherited form of high cholesterol, Genetic responsibility which involved qualitative interviews with 31 people with the condition recruited through a specialist Familial hypercholesterolaemia outpatient clinic. The paper is an attempt to open out discussions about the significance of genetic Predictive testing Genetic identity responsibility and biological subjectivity. I argue that in this study, FH was not associated with a notable fi fi UK family narrative of illness or a strongly de ned speci c disease community, and no clear sense emerged of obligations to kin or others derived through genetic risks or genetic connections. While responsibil- ities concerned with the welfare of oneself and one’s existing offspring were enunciated, obligations to other potential or actual kin, e.g. to tell and encourage kin to manage their risks, were much less clearly defined. Drawing on these findings, I start to address questions about the pervasiveness of genetic responsibility and genetic identity and the contexts in which they might be significant. Ó 2010 Elsevier Ltd. All rights reserved.

Introduction Two approaches for thinking about genetic responsibility are discernable in the literature. First, the social theorists Nikolas Rose In the wake of the Human Genome Project, it has been proposed and Carlos Novas (Novas & Rose, 2000; Rose, 2001, 2006, 2007; that a new kind of biological subjectivity has emerged in which Rose & Novas, 2004) have suggested a wide set of obligations responsibility for the self extends to knowing and managing the flowing from genetic knowledge, concerning decisions about the implications of one’s own genome. The terms ‘genetic responsi- whole scope of life plans, such as forming relationships, having bility’ or ‘genetic prudence’ (Hallowell, 1999; Kenen, 1994; Novas & children, and career choices. Furthermore, they connect the notion Rose, 2000) have been coined to encapsulate this idea. It has of genetic prudence to a broader set of claims about the emergence emerged in the context of expectations of an increasingly impor- of new forms of biological citizenship and activism. Thus, they tant place for genetic information and technologies in the diagnosis argue that genetic information is collectivising in two ways: and treatment of many diseases. ‘Choices about marriage, procreation, financial planning, inher- The idea of genetic responsibility or prudence implies two areas itance, career and much more are made in a web of entangle- of action. First, there is an obligation to become informed about ments involving actual and potential kin, employers, partners one’s genetic constitution and to undertake risk management to and children. And ‘at risk’ individuals are joining into groups monitor and try to modulate one’s own genetic risks. This aspect and organisations, not merely demanding public provision and can be thought of as a continuation of more general discourses of rights, but making their own claims on the deployment of personal responsibilities to avoid illness though identifying health biomedical technologies and the direction of biomedical risks and taking preventative actions (Petersen & Lupton, 1996). research’ (Rose, 2001: p. 19). Second, genetic responsibilities are extended towards other people, particularly family members. Their discussions have foregrounded the activities of certain patients’ groups in engaging with science and shaping research. Indeed, they suggest that, in some cases, active membership of fi * Tel.: þ44 115 84 67173; fax: þ44 115 95 66349. a patient organisation can be recon gured as a duty (Rose & Novas, E-mail address: [email protected]. 2004). This version of genetic responsibility, therefore, ascribes the

0277-9536/$ e see front matter Ó 2010 Elsevier Ltd. All rights reserved. doi:10.1016/j.socscimed.2010.03.053 K. Weiner / Social Science & Medicine 72 (2011) 1760e1767 1761 genetically at risk person obligations towards potential and actual widely prescribed prophylactic therapies. The study from which kin, as well as a desire, if not a duty, to participate actively in groups data are derived involved interviews with ‘ordinary’ people with FH formed around a shared biological identity. In formulating this who attend an outpatient clinic in the north of England, as opposed conception of genetic responsibility, Novas and Rose have drawn to studying only those who are active support group members. mainly on data from online support group discussions, in particular The paper focuses on responsibilities to other people, particu- concerning Huntington’s Disease. Nevertheless, Rose (2006) larly family, kin and potential kin. I have discussed understandings explicitly extends the notion beyond ‘rare’ genetic conditions, of FH and responsibilities for oneself in detail elsewhere (Weiner, arguing that it also applies to susceptibility for more common 2009a). I will argue that the genetic aspects of FH are not prom- conditions. inent in people’s accounts of their experiences and actions, and The second approach to genetic responsibility is provided by the conclude that responses to inherited conditions may partly depend detailed empirical investigations of medical sociologists, ethicists on the characteristics of the disease in question, such as its treat- and discourse analysts such as Arribas-Ayllon, Sarangi, and Clarke ability, prevalence, the kind of clinical management and technol- (2008), d’Agincourt-Canning (2001), Hallowell (1999) and Polzer, ogies involved and the nature of lay models of causation with which Mercer, and Goel (2002). This body of work, which draws on it is associated. The research suggests attention both to the specific detailed ethnographic study, often involving interviews, has characteristics of diseases and to the different possible sites of focussed on people’s narratives about their deliberations whether study when theorising about genetic responsibility. to undertake genetic testing and their actions relating to this. They The following section provides some brief details about FH and have discussed, in particular, the responsibility to disseminate its clinical management, before the paper moves on to the study information to relatives and encourage others to get tested, as well design and findings. as to know and manage one’s own risks for the sake of others. This approach can be supplemented by the growing body of more Familial hypercholesterolaemia: clinical context clinically-oriented studies concerned with the communication of genetic information within families (see Gaff et al., 2007; Peterson, FH is characterised as a dominant single gene condition leading 2005). Studies within this second approach have tended to recruit to increased risk of early and severe coronary heart disease (CHD), participants from those attending clinical genetics services. Much and is thought to affect 1 in 500 people in the UK. It has been of this research has focussed around the cases of hereditary breast estimated that, without treatment, at least 50 per cent of men and and ovarian cancer (HBOC) and Huntington’s Disease. 30 per cent of women with FH would have heart disease or have These different approaches help to alert us to the different types died of heart disease by the age of 60 (Marks, Thorogood, Neil, of sites where genetic responsibility may be articulated, for Humphries, & Neil, 2006). The condition is treated mainly using example, in online support groups, in the research interview, and in the class of cholesterol lowering drugs known as statins, combined connection with particular conditions. Koch and Svendsen (2005) with dietary and other lifestyle modifications. Mortality rates for FH suggest a further site, when they observe that an ethos of respon- have fallen significantly since the introduction of statins in the sibility for self, family and society is encoded in clinical genetic 1990s. practices and policies. In other words, genetic responsibility may be In the UK, FH is currently diagnosed mainly on the basis of a set embedded in certain institutional or political settings. Their work of clinical indicators including high blood cholesterol, family also helps to draw our attention to clinical discourse, and to the history and the possible presence of tendon xanthomas (cholesterol possibility that different forms of clinical management might align deposits or ‘lumps’ on tendons). Specialist care for people with FH with or influence people’s accounts of living with genetic is provided within the UK’s National Health Service through lipid information. clinics. These specialist outpatient clinics provide services for all Given the potential influence of different regimes of clinical people with lipid-related disorders, including, but not limited to, management, it is worth reiterating that studies of genetic hereditary conditions. They are run by clinicians from a number of responsibility have tended to draw on attendees of clinical genetic backgrounds, including lipidology, diabetology and clinical services, and to focus on conditions for which genetic risk infor- pathology. mation is available in the absence of prophylactic therapies. It may be helpful to clarify the ways in which the management Nevertheless, many conditions thought to have an appreciable of FH is similar or different to ‘ordinary’ raised cholesterol in the UK. genetic component may be managed wholly outside of clinical The clinical literature suggests that: (1) There is a large area of genetics and prophylactic therapies may be available. These areas crossover in the cholesterol levels of people with and without FH, have been relatively neglected in the sociological literature. It is although some people with FH have exceptionally high cholesterol possible that the rationale for seeking genetic information and the levels. (2) At similar cholesterol levels, people with FH are thought responses evoked by such information may differ in these to be at greater risk of CHD than others, because they have had circumstances. these high levels from birth. (3) Clinicians are urged to manage FH Returning to Rose and Novas’s claims about the emergence of more intensively and treat it more aggressively than ‘ordinary’ high new forms of activism based around shared biological identities, cholesterol, because of the higher risks of CHD. This means, for one can argue that these ideas were developed through a focus on example, prescribing higher doses of statins, management via certain and perhaps particularly interesting patients’ organisations specialist clinicians rather than general practice, and more vigilant (O’Donovan, 2007). Furthermore, work in this vein has inevitably monitoring of cholesterol levels and other cardio-vascular risk tended to focus on those who do participate rather than those who factors. do not. Questions remain about how broadly such ideas apply. It is with these observations in mind that this paper explores the Methods notion of genetic responsibility in the context of inherited high cholesterol, focusing specifically on the case of familial hyper- This paper discusses data derived from a qualitative study cholesterolaemia (FH). This relatively common and treatable concerned with lay and professional constructions of familial condition, which is associated with increased risk of heart disease, hypercholesterolaemia. It draws mainly on data from interviews was selected speci fically for its comparatively mundane character, with people with FH, who were recruited through a large lipid clinic its management outside of clinical genetics and the availability of in the north of England. 1762 K. Weiner / Social Science & Medicine 72 (2011) 1760e1767

Recruitment and interview process Table 2 Sample characteristics.

Following approval by the relevant NHS local research ethics No (%) committee, potential participants were selected randomly from Gender those people aged 18 or over, whose diagnosis had been established Male 17 (55%) for at least six months, who were due to have an outpatients Female 14 (45%) appointment at the clinic between January and August 2004. Age People were invited into the study by letter, in advance of their 18e45 11 (35%) scheduled appointments and about 60 percent of these agreed to 46þ 20 (65%) participate. I undertook a total of 31 interviews. One was conducted Age range:24e69 (mean 52) ’ at the interviewee s home and all the remaining were undertaken Occupational backgrounda at the hospital. I developed an interview topic guide based on the managerial & professional 15 (50%) wider study aims and drawing particularly on the literature on Intermediate 7 (20%) genetic responsibility and lay constructions of genetic disease or Routine & manual 9 (30%) susceptibility. This focussed on interviewees’ explanations of FH a Categories are drawn from the new National Statistics Socio-Economic Classi- and CHD and their experiences and actions in relation to FH e see fication (Office for National Statistics, 2005). Intermediate occupations include Table 1 (for further details, see Weiner, 2009a). The topic guide was clerical & technical occupations, and non-professional small employers & self- employed. used in a flexible way, and interviews covered some or all of the areas depending on the direction of discussion and on any time constraints indicated by the interviewee. Interviews lasted accounts, about half of the interviewees had already experienced between 20 min and one and a half hours. I recorded all the some form of CHD, either heart attack or angina, and/or interviews on a digital audio recorder and transcribed these in full. undergone some form of heart surgery.

Analysis Family narratives and a collective identity? I undertook a thematic analysis of the interview data following the process outlined by Hammersley and Atkinson (1995), which Previous studies such as Cox and McKellin (1999) and Richards involved an iterative process of identifying data that were relevant (1996) suggest that, particularly for dominantly inherited genetic to existing themes in the literature, and identifying new themes conditions, an awareness that the kinship may be ‘prone’ to the through the identification of recurring talk on particular topics, condition may become part of family culture; it becomes ‘this thing recurrent use of a particular phrase, and attending to surprising or in our family’ (Cox & McKellin, 1999: p. 629). By contrast, people’s apparently inconsistent aspects. In this paper, I concentrate mainly talk about their experiences of FH does not suggest a strong sense of on interviewees’ talk about their actions in relation to others and collective identity based around the condition. For example, only the sense in which obligations are derived through genetic a minority of the interviewees talked about a family narrative of knowledge or connection. In analysing the interviews, I have tried a family history of CHD or raised cholesterol. In the current study, to avoid making assumptions about the veracity or otherwise of many interviewees either did not discuss family history or talked of interviewees’ reported actions or thoughts. Rather, following piecing family health histories together after their own diagnosis Murphy (2000), the emphasis in the analysis is on what the inter- was established. One woman, for example, said that she found out view data indicate about the normative frames associated with FH. that she had raised cholesterol when she was thirty through having In other words, what a person with FH might be expected to say in a ‘lump’ (tendon xanthoma) removed from her ankle, and was only order to demonstrate that they behave normally, morally, and later diagnosed with FH at the age of forty-four. She suggests that it responsibly with respect to their condition. In the paper, inter- was only at this point that she started to recognise the significance viewees are referred to throughout by an anonymised participant of her mother’s own health history: fi identi cation (ID) number. ID11: my mother wasn’t one for talking a lot about things and she had big lumps on her hands which she wasn’t bothered Participants’ characteristics about because they never hurt her. She never actually said she had high cholesterol, she just took these tablets that they gave The main demographic characteristics of the participants are her at the hospital. It was only when I started taking them that I shown in Table 2. All self-identified as white and the majority realised that they were the same ones that she’d been on, but (28/31) as white British. Interviewees were all seasoned lipid because by then she’d passed away. clinic attendees whose diagnoses had been established for at least a year, if not substantially longer. According to their own In this research, many interviewees (60%) indicated that their own diagnosis of raised cholesterol had come about by chance or was unanticipated. Others (40%) decided to, or were advised to take Table 1 a cholesterol test as a result of a relative’s CHD or high cholesterol. Interview topic guide e sample questions. There is a distinction between this relatively large minority of How did you come to be a patient at this clinic? people who suggested that family prompting or events had been What were your initial reactions to the diagnosis? the immediate precursor to them getting their own cholesterol Who did you tell about your diagnosis and what did you say? tested, and the smaller subgroup of people who expressed a clear ’ What ideas do you have about why you ve got the heart problems/cholesterol sense that heart disease or high cholesterol was a ‘thing in their problems/FH? ’ If you had to explain your condition to someone else, what would you say? family . Prior to their own diagnosis, and even sometimes after this, Are there any situations where you would prefer not to talk about it or avoid interviewees did not necessarily have a strong sense of a family talking about it? history of CHD. These observations are in keeping with earlier work What sort of impact has the condition had on your life? on inherited cholesterol in the UK (Lambert & Rose, 1996), but are at What would you say is the worst aspect of having this condition? odds with comparable research in the Netherlands (Horstman & K. Weiner / Social Science & Medicine 72 (2011) 1760e1767 1763

Smand, 2008), which reported greater recognition of a family taking children, or persuading/encouraging adult offspring to problem with heart disease. Horstman and Smand (2008) recruited attend for cholesterol testing in order to establish a diagnosis of FH, families via the Dutch national FH family screening programme and and encouraging appropriate behaviours and compliance with all had accepted an offer of genetic diagnostics. It is likely that the medication. greater family awareness relates to this research site and the The diagnosis of children was, by and large, constructed as screening process that families had undergone. wholly obvious, straightforward and unproblematic; it was not This is not to say that in the current study people were oblivious framed as an action that would reveal something about one’s inner- to the hereditary aspects of their condition. As I discuss elsewhere self or identity, that might cause anxiety, or that might bring chil- (Weiner, 2009a), every interviewee recognised a familial/heredi- dren prematurely into the medical sphere, but rather as a very tary aspect to their high cholesterol. However, the salience of this practical act. Interviewees’ talk of their actions relating to their aspect varied in their explanations of, and accounts of living with, children focussed on being mindful of their children’s diets, and of the condition. While interviewees expressed an obligation to take encouraging or training their children to take their medication: care of themselves by modifying lifestyle, taking medication and ID54: I wanted to make sure that all the family, the kids, if they complying with medical advice, cholesterol levels (rather than needed the treatment they got it straight away and we make genetics) was a central aspect. Other studies on genetic responsi- sure that they take their medication and I would think that bility (Hallowell, 1999) suggest that knowledge of family history they’re probably alright and live a normal life [.]It’s because prompts people to come to the genetics clinic, and that people deal we’ve started them at a young age, it’s a habit [.] I mean my with genetic test results. By contrast, in this study people cannot be children have got it and I don’t see how it will affect their lives at said to have been seeking to become informed about their genetic all. Dietary, I mean you’ve got to give some consideration to not constitution or be acting on the basis of genetic risk information. taking the children to MacDonald’s everyday for their meals and Furthermore, participants’ accounts of their own and their you know we tend to eat lots of white meat [.] relatives’ CHD tended to conform to established lay models of CHD (Davison, Frankel, & Davey Smith, 1989). These draw on a number of It is noticeable in this extract that the interviewee connects his elements, including a family history of heart trouble, physical care of his children with the idea that they will probably have appearance, occupational factors, stress, and individual behaviours a normal life. This suggests that demonstrating responsibility for and dispositions. Areas of non-control, such as heredity, are seen as managing one’s children’s cholesterol, as well as constructing this subsidiary to lifestyle. All of this suggests that discussion of the as a largely pragmatic and unproblematic area, may be connected emergence of novel genetic subjectivities and genetic responsibility to warding off reproach for ‘passing on’ the condition in the first might need to attend to lay constructions of the diseases in ques- place. tion and the types of diagnostic technologies in use, themes to Only one interviewee reported that she had declined testing of which I will return in the course of the paper. her child, because she wanted him to be able to be a child with ‘no Rose and Novas’s(Novas & Rose, 2000; Rose, 2007; Rose & labels’ attached: Novas, 2004) conception of genetic responsibility foregrounds the ID100: He’s very active. He eats the diet that I eat and I just feel collectivitising impetus of genetic information, focusing particu- now he’s a child and I want him to be that with no label larly on participation in patients’ organisations. In the current attached. And if he follows that regime for now, okay. study, few of the 31 interviewees were involved with such groups. For example, only a small number were members of HEART UK, the This woman’s account makes very clear that the fact her son had main patient-focussed charity in the UK for inherited cholesterol not been tested is not a matter of ignorance or fecklessness; this conditions, and none was actively involved. Although a few said was a measured decision based on his psychological welfare and they had used its website as a source of information, or were aware contingent upon his maintenance of appropriate behavioural of the bimonthly magazine, there was little sense that people with regimes. In other words, this decision to decline testing can be seen this condition might want to get in touch with each other in order as an act of parental responsibility. to share experiences or help shape knowledge in this field. These Responsibilities to offspring continued into adulthood. A number ideas are encapsulated in the following exchange: of interviewees talked of trying to persuade or encourage their adult offspring to get tested, maintain healthy behavioural regimes and KW: Have you ever been in touch with any of the kind of patient take their medication, or of their parents doing this for them. The support groups or anything? welfare of one’s offspring is an unavoidably moral area (see Ribbens ID67: Well, no, I’ve felt that I haven’t needed any support, as it McCarthy, Edwards, & Gillies, 2000). These accounts suggest that were, so you know, I’ve not had a heart attack or anything like people may take different approaches to discharging their duties to that, you know. I feel fitter than most of my contemporaries. their offspring, but however this is achieved it is difficult to remain Taken together, these data on family narratives and on silent on this topic. Indeed, all but three interviewees discussed the involvement with lay health groups suggest that inherited high diagnosis and care of offspring, of whom two did not have offspring. cholesterol is not associated with a strong collective disease iden- The prevalence of talk about actions in relation to one’s offspring tity. This view is supported by my work on the organisation and may be an acknowledgement of the familial aspect of the condition. activities of HEART UK, which I discuss elsewhere (Weiner, 2009b). It is, however, hard to separate this from the responsibilities that any parent feels for the continued well-being of an offspring with any Responsibility to others: looking after children identified health-related issue.

D’Agincourt-Canning (2001), Hallowell (1999) and Polzer et al. (2002) suggest that people express a strong sense of obligation to Responsibility to siblings and wider kin communicate genetic risk information with their kin and encourage them to manage these risks, and that this applies Previous studies such as d’Agincourt-Canning (2001), Hallowell particularly to offspring. In the present study, interviewees’ role in (1999) and Polzer et al. (2002) suggest that obligations to the care and treatment of their children emerged as one very clear communicate risk information and encourage risk management area of responsibility. This was evident in their discussions about extend to siblings and wider kin. In the present study, talk on this 1764 K. Weiner / Social Science & Medicine 72 (2011) 1760e1767 area assumed much less prominence than discussions about attended, not here but I think she had a slight problem with offspring. In keeping with previous studies, interviewees talked of cholesterol at one point. informing those with whom they had social or geographical KW: But were you the first person to be told that it was this proximity. However, the ethical and psychological deliberations family thing? that seem to characterise accounts of communication in other ID13: Yes, within the family I was the first one. studies (Featherstone, Atkinson, Bharadwaj, & Clarke, 2006; Gaff KW: So were you the one that had to tell the others or had they et al., 2007; Peterson, 2005) rarely featured in the current study. found out through another way? Before providing further details, it is important to draw atten- ID13: I don’t think it was really, it wasn’t really mentioned too tion to certain methodological differences between the present much until I went in hospital and had an operation, had one of study and those cited above. My analysis is not so much focussed on the operations and they said what’s up with him, oh it’s all to do establishing the ‘facts’ or ‘realities’ of whether interviewees had or with his high cholesterol stuff and basically like that really. But I had not communicated with different kin and their reasons for this, did speak to them. but with the way this topic was (or was not) presented at the interview. It is concerned with whether interviewees need to The data suggest that although many interviewees said they had demonstrate they have communicated with their kin in order to be talked with their kin, they did not necessarily frame it as being out seen by themselves and others (e.g. the interviewer) as proper and of concern for the welfare of their kin, or claim the agency for responsible people with FH (Murphy & Dingwall, 2003). This informing and encouraging them. These observations are in analytical stance, i.e. focusing on the moral work of interview talk, keeping with previous work concerning inherited high cholesterol makes particular sense given that the interviewees were being conditions (van den Nieuwenhof, Mesters, Gielen, & de Vries, asked to provide retrospective accounts of events and thoughts that 2007), and also inherited bowel cancer susceptibility (see Gaff were, in some cases, quite long past. I have characterised the types et al., 2007) which have reported that telling was often through of narratives that emerged around this topic in three main ways: normal social interaction and not perceived as urgent.

Not telling Claiming responsibility

In a small number of cases (4), the interview data suggests that a small number of interviewees (4) readilycredited themselves as the interviewee had not talked with their kin about the condition. having talked with kin or as being instrumental in others attending In one case the responsibility for telling kin was plainly refuted, and for testing. In the following example the interviewee can be seen to in part, this involved questioning the significance of the hereditary claim responsibility for, or attribute himself a central role in, the aspects, implying that other aetiologies may be involved: welfare of his kin. This is established through using first person to describe events (I talked to them, I wanted them to come, etc): KW: I was just wondering whether there’d been any kind of discussion with your brother? KW: After you saw [clinician] what did you do then, I mean who ID88: no, we don’t particularly speak, you know, we don’tgeton did you talk to about the diagnosis? terribly well. [.] But just as a note, my father died of a heart attack ID24: Well I talked to m’ family initially, cos I wanted them all to in 1969, so did his brother, okay. Now here’s the twist in this. His come down, but I couldn’t convince them all at the time [.]My other brother isninetyfournext month and has hadangina for fifty older sister has found she’s got a high cholesterol problem and I years and never had an operation, and he’s still playing the said, well I wish you’d get onto the clinic here, I’m sure you could accordion, the keyboard and a successful artist, now put that in if you asked for it [.]I’ve got a cousin who also I think might your pipe and smoke it, init really? And his other brother is about have the same problem and again you know I’ve told her about it eighty nine, so I dunno. There’snoansweristhere? [.] I made sure they all know, because I want them to be aware ‘ of it, cos it could affect them. In this case, it seems that the apparently sporadic, or unpre- dictable nature of heart disease was drawn on to lay off responsi- bility for talking with kin. This observation hints at a wider Not claiming responsibility explanation that may contribute to the relative lack of prominence of this topic in these interviews. Earlier in the paper, I suggested a larger proportion of interviewees (perhaps a dozen) who that participants drew on many factors in accounting for their own mentioned talking with their kin about their condition did not or their relatives’ CHD. This finding is in keeping with other work obviously present themselves as being instrumental in their kin’s on lay models of common diseases, even in cases where specific diagnosis or welfare, or claim agency in the same way as the genetic susceptibilities have been identified, which report that interviewee quoted above. Their accounts of communicating with genetic risks contribute just one aspect of multifactorial models kin tended to involve less directive or first person language and (see Weiner, 2009a). In the case of CHD, while hereditary aspects sometimes emerged only through persistent questioning on my may be acknowledged, individual experiences and behaviours tend part. In the following account, for example, the interviewee’s talk to be prioritised. It is possible that in the case of FH, the availability suggests that he had a certain amount of discussion with his of alternative explanations of heart disease may attenuate any siblings about the raised cholesterol condition, but this was not responsibility people may feel to communicate with their families framed as particularly urgent or significant, and these discussions about the condition. were framed as more to do with accounting for his own CHD than Overall then, only a small proportion of interviewees actively concern for their welfare. It is through my persistent and rather framed communicating with kin and encouraging them to manage single-minded questioning that he reiterates that he did speak to their cholesterol as an obligation. Although many of them may have his siblings about the hereditary aspect of the condition: talked with their siblings or other family members about FH or KW: And sodid you ever talk to them [brothers and sister]about it? raised cholesterol and know the status of these kin, family ID13: We did do, yeah, a long while ago but with marriage and connections were not a prominent part of their talk. Occasionally, children and things like that we only meet at weddings and obligations based on such connections were actively rejected. The funerals. So I don’t know how they’re going on. I think my sister findings resonate with Horstman and Smand’s (2008) observation K. Weiner / Social Science & Medicine 72 (2011) 1760e1767 1765 that FH does not transform family ways of relating and that order to present themselves as blameless with respect to the responses to the condition conform to existing family patterns. transmission of the gene. Such studies raise doubts about people’s preparedness to guide their life decisions according to a particular Reproductive responsibility biological subjectivity. What possibly distinguishes the current study from these Novas and Rose’s notion of genetic prudence suggests that studies is not the narratives or actual actions reported by inter- having knowledge of genetic risk information is associated with viewees (e.g. appeals to fate, comparisons with other conditions, obligations regarding a number of areas of life planning. This rejection of prenatal testing), but the way in which these are dis- section will focus on reproductive decision making, since, despite cussed. In contrast to studies of more classical genetic conditions opportunity and prompting within the interview schedule, there (see also Downing, 2005), participants in the present study was very little talk of other areas of life planning. One can argue appeared to feel less obliged to say that they had deliberated about that recourse to reproductive decision making, in particular, has reproductive decisions, or perhaps, as discussed in the previous become integral to the framing and management of genetic disease. section, communicating with kin. This suggests that they may be In the UK, prenatal genetic testing and pre-implantation genetic subject to a different set of moral expectations, which may in part diagnosis (PGD) are available for a range of Mendelian conditions be related to professional and policy discourses associated with the including inherited susceptibility to certain cancers. By contrast, conditions. this theme was unimportant to the people with FH interviewed in this study. Discussion Discussions about reproductive decisions were mostly promp- ted by me and were almost universally framed by interviewees as The data I have presented suggest that genetic responsibility a non-topic, i.e. they had been contemplated, but quickly dismissed, might be a fuzzier concept than it first appears and brings new or were outside the bounds of what is thinkable about FH. Inter- perspectives to the notion. I have suggested that FH may not be viewees, with only one exception, rejected the idea of reproductive associated with a notable family narrative of illness or specific decision making in connection with FH. This rejection hinged on disease identity or community. While all the participants were the construction of FH as treatable, manageable and not serious engaged in managing their condition, this cannot be thought of as enough to warrant such a course of action. The treatability and prompted by a desire to know and manage their genetic constitu- relative lack of impact of FH were underscored through compari- tion, since diagnosis often came about through happenstance and sons with other, more serious conditions such as Huntington’s was established using clinical rather than genetic diagnostic tech- Disease. niques, and interviewees’ accounts of FH were shaped by estab- Furthermore, there was an explicit rejection of blame for lished ideas about CHD. Responsibilities regarding care of offspring, transmitting FH between generations on the basis that (1) the in terms of establishing diagnosis and training or encouraging condition is manageable and (2) that passing it on was an children to manage their condition, were clearly enunciated. Talk- unavoidable result of chance: ing with other kin and encouraging them to manage their risks was not a prominent part of these interviews, despite ample opportu- KW: I’m wondering what ideas do you have about why you got nity and prompting to discuss this area. Reproductive decision FH? making was mainly seen as a non-topic, in other words as an idea ID67: It’s just the cards I was dealt. You know, that’s the way it is. which fell outside what is thinkable about FH. Overall, while these It’s like, I’m about to have a child. The FH hasn’t affected that, accounts construct a strong sense of obligation concerning the you know, it’s a gamble. The baby may or may not have it and, I welfare of oneself and one’s existing offspring, obligations to other mean it’s not a debilitating condition. You know I’m perfectly kin, including future offspring, or a wider community of people healthy as I am now, and there’s treatment for it, so I don’t with FH were much less clearly defined. The forms of collectivisa- apportion any kind of blame or any guilt or anything like that. tion envisaged by Rose and Novas, in terms of life planning and It’s just one of those things. involvement in lay health organisations, are virtually absent in The lack of blame depends on a construction of FH as not only these accounts of people with FH. manageable and compatible with being ‘perfectly healthy’, but also What does this analysis add to our understanding of genetic as ‘a gamble’ and ‘just one of those things’. This construction of FH as responsibility? It seems that the concept, particularly as formulated unavoidable is striking given the focus on reproductive decision by Rose (2006), allows little space for the role of lay ideas about making in clinical genetic practices and policies. In other contexts, disease aetiology and the variable importance placed on the reproduction is clearly framed as a calculated and controlled contribution of genes. Furthermore, it seems to rest on a model of decision, and as a responsibility. genetic disease in which genetic risk information is provided in the One might argue that this rejection of reproductive decision absence of other biomarkers of bodily status or effective prophy- making is quite understandable, given the treatable nature of the lactic treatments. It therefore does not anticipate the difficulties in condition, and that conditions such as Huntington’s Disease are the case of FH of distinguishing between genetic information and indeed of a different order of seriousness. There is a danger, other health risk information and between genetic responsibilities however, of being too essentialist about the specific characteristics and more general responsibilities to self and offspring. The present of conditions. Petersen (2006) shows that people with classical study suggests that where other aetiological explanations, other genetic conditions, such as haemophilia, may make similar appeals diagnostic technologies, and treatments are available, talk of life to the manageability of their condition in their accounts of their planning and responsibilities to kin may have less immediate reproductive decision making or make comparisons with other, resonance. ostensibly more serious conditions. He comments that these are, in One might ask how specific these findings are to FH, and the fact, very familiar narratives concerning chronic illness more degree to which more general conclusions can be drawn. It is generally. Furthermore, like the present study, Hallowell et al. possible that FH or conditions related to heart disease might be (2006) argue that, in the case of HBOC (a condition for which exceptional. Allsop, Jones, and Baggott’s (2004) study of health PGD is now licensed in the UK), men who are carries of a BRCA consumer groups in the UK provides some evidence to support this breast cancer susceptibility gene may draw on a discourse of fate in idea, finding that there are comparatively fewer high profile groups 1766 K. Weiner / Social Science & Medicine 72 (2011) 1760e1767 formed by patients or carers in this area. They comment (ibid: 744) and consider both people who do and do not participate in disease- that: ‘[it] does not appear to arouse feeling of anger or resentment, related communities. or pose a threat to identity as the conditions mentioned previously [maternity services, mental health, cancer, arthritis]’ and suggest References this might relate to ‘the high incidence of heart disease, the age and Allsop, J., Jones, K., & Baggott, R. (2004). Health consumer groups in the UK: a new sex of those affected, the known links between lifestyle and the social movement? 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