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J7ournal ofMedical Ethics 1999;25:176-182 J Med Ethics: first published as 10.1136/jme.25.2.176 on 1 April 1999. Downloaded from

Preimplantation genetic diagnosis and the 'new' David S King, Editor, GenEthics News

Abstract It is generally thought that PID represents an Preimplantation genetic diagnosis (PID) is often seen improved form of prenatal diagnosis, primarily as an improvement upon . I argue because it allows women to embark on a that PID may exacerbate the eugenic features of pregnancy with the certainty (subject to testing prenatal testing and make possible an expandedform errors) that the child will not be affected by offree-market eugenics. The current practice of , rather than face the trauma of prenatal testing is eugenic in that its aim is to reduce pregnancy termination. Given the analogy with the numbers ofpeople with genetic disorders. Due to prenatal testing, most bioethical arguments in social pressures and eugenic attitudes held by clinical favour of PID have assumed that since prenatal in most countries, it results in eugenic genetic testing is widely accepted, the genetic outcomes even though no state coercion is involved. I selection of embryos is not, of itself, a problem. It argue that technological advances may soon make has also been argued that since embryos are inevi- PID widely accessible. Because is not tably discarded in IVF, selection on genetic involved, and multiple embryos are available, PID is grounds is unobjectionable.' radically more effective as a tool ofgenetic selection. It is not the aim of this paper to mount a philo- It will also make possible selection on the basis of sophical argument that genetic selection is ethi-copyright. non-pathological characteristics, leading, potentially, cally unacceptable under all circumstances, or to a full-blown free-market eugenics. For these that prenatal testing should be abolished. How- reasons, I argue that PID should be strictly regulated. ever, I will argue that the current regime ofprena- (7ournal ofMedical Ethics 1999;25:176-182) tal testing and genetic selection is eugenic in pur- I Keywords: pre-implantation diagnosis; genetic testing; pose and outcome. believe this situation needs to eugenics; abortion; disability be addressed, because I believe that eugenics, http://jme.bmj.com/ at least in all incarnations that have occurred to date and are foreseeable this side of utopia, is socially damaging and harms people with disabilities. Introduction Some degree of eugenics is probably unavoidable, Preimplantation genetic diagnosis (PID) is a but we should do our utmost to restrict it. I will method of genetic testing and selection of argue that, on the contrary, PID opens up the embryos. It involves the removal of one or more possibility of a radical expansion of the current on September 30, 2021 by guest. Protected cells from embryos generated by in vitro fertilisa- eugenic regime, creating a consumer-driven form tion (IVF) and analysis of the DNA from those of eugenics in which selection for trivial medical cells. Up to ten embryos may be produced in each conditions and non-pathological characteristics cycle of IVF, of which only two or three, which will occur. Although it has often been suggested have the desired genetic profile, are implanted, that this is no more than a remote possibility, this using standard IVF procedures. It is estimated paper aims to show that it is indeed a serious con- that around 100 children have been born cern, which requires action to regulate PID as well following PID.' To date, the technique has been as to curb other social and economic tendencies used almost entirely to detect incurable mono- which point in the same direction. genic disorders such as Duchenne Muscular Dys- trophy and . In early examples of the use of the technique, genetic testing was used to Laissez faire eugenics eliminate male embryos, to prevent transmission The dominant tendency in debates about the ofX-linked genetic disorders.2 The main group of impact of human research is to view clients for this service have been couples known to eugenics as a purely historical phenomenon, and be at risk of having children affected by a genetic to minimise its relevance to the current situation. disorder, often because they already have an In the conventional definition, the key aspect of affected child. eugenics is coercion of people's reproductive King 177 J Med Ethics: first published as 10.1136/jme.25.2.176 on 1 April 1999. Downloaded from choices, for social ends, which may include Approximately 15% of ENE and majorities of improving the quality of the population, prevent- ROW geneticists admit that they would provide ing suffering of future generations or reducing biased prenatal counselling (emphasising negative financial costs to the state. However, while it is aspects of a condition without actually suggesting true that in some countries eugenics movements termination) for a variety ofchild- and adult-onset succeeded in persuading the state to support their genetic disorders. For conditions judged more aims, coercion was never an essential feature of serious, nearly 30% of US genetics professionals eugenic theory or practice. From its very begin- would provide negatively slanted counselling. nings, many eugenicists, including the founder of Conversely, where the condition is viewed as less the eugenics movement, Francis Galton, were serious, more positive counselling would be given. opposed to coercion, believing that if people were Wertz and Fletcher's research details what properly informed they would naturally make the geneticists say they think and do, in response to a "right" reproductive decisions. Definitions of questionnaire. Figures derived from such answers eugenics which exclude Galton can hardly be almost certainly underestimate the degree to taken seriously.4 which counsellors contravene their professional norms in practice. Their conclusions are sup- Patient autonomy ported by studies in which genetic counselling After the second world war, as overt eugenics pro- sessions were videotaped.7 These revealed a high grammes became politically unpopular, the prac- level of directiveness by genetic counsellors. Most tice of "non-directive" genetic counselling became disturbingly, the level was highest when clients institutionalised in most Western countries. Later, were from lower socio-economic groups. Most this was reinforced by the trend in counselling for non-monogenic prenatal tests is and practice towards patient autonomy. It is gen- performed by obstetricians, who admit to being erally thought that medical geneticists have aban- more directive than geneticists. doned their former eugenic views and that Even were much greater efforts made towards non-directive counselling, with the emphasis on non-directiveness, structural features of the pre- copyright. individuals' personal decisions, insulates human natal testing situation militate against a genuinely genetics from charges of being eugenic. I would free choice for patients. Firstly, as Green and argue. that, on the contrary, the current system Statham9 and Clarke'° note, the very fact that a produces eugenic outcomes. test is offered by doctors tends to suggest to Although non-directiveness remains the profes- women that its use is warranted and desirable:

sional norm in Western countries, research on such is the situation in all other areas of medicine. http://jme.bmj.com/ geneticists' attitudes and practices reveals that Once it becomes routine, and is presented as such, eugenics is far from dead. Wertz and Fletcher5 6 this effect is exacerbated. Research also shows that conducted a survey of the attitudes and practices many women are simply unaware that prenatal ofnearly 3,000 geneticists and genetic counsellors tests have been performed, which indicates that in 37 countries. Their results show clearly that the level of is low." only geneticists in English-speaking countries and

Northern Europe (ENE) can make any claim to Presumption of termination on September 30, 2021 by guest. Protected non-directiveness and abandonment of eugenic Secondly, the dynamic ofundergoing testing leads thinking. In Eastern and Southern Europe, the to a presumption of termination, should abnor- Middle East, Asia and Latin America (Rest Of the mality be found. Many women feel that once they World, ROW), geneticists not only hold eugenic have agreed to testing they should opt for ideas, but see no problem in directing their clients termination, since otherwise there was little point in accordance with those ideas. For example, in in undergoing testing.9 The still common practice response to the clearly eugenic suggestion that: amongst obstetricians of refusing to offer amnio- "An important goal of genetic counselling is to centesis, unless the woman agrees in advance to reduce the number of deleterious genes in the termination," enforces this logic. population", 13% of UK geneticists agreed. In The offer of testing also tends to lead to accept- Eastern and Southern Europe this rises to an ance in that women anticipate their own feelings average of 50%, and in China and India to nearly of guilt, should they decline and subsequently dis- 100%. An average of 20% of ENE geneticists feel cover that the is affected by a genetic that, given the availability of prenatal testing, it is disorder.'3 They also anticipate being blamed by not fair to society knowingly to have a child with a others for failing to take a test.'4 In one British serious genetic disorder. In the rest of the world, study, 13% of obstetricians agreed with the state- majorities ofgeneticists supported this view, rising ment that: "The state should not be expected to to nearly 100% in some countries. pay for the specialised care of a child with a severe 178 Preimplantation genetic diagnosis and the 'new'eugenics J Med Ethics: first published as 10.1136/jme.25.2.176 on 1 April 1999. Downloaded from handicap where the parents had declined the offer tive statements, such as that by the British Royal of prenatal testing".12 (This figure is similar to Society of Physicians,'9 clearly indicate that the Wertz and Fletcher's results concerning eugenic purpose of offering is to reduce the attitudes amongst geneticists.) number of births of congenitally disabled chil- It is even more important to realise that the dren. Although many genetic counsellors express conventional accounts about how reproductive discomfort with the practice, arguments for the decisions are made tend to ignore social context. introduction of genetic screening programmes are It is assumed that prospective parents take often couched in terms of financial benefits to the decisions based primarily on personal feelings and state.""22 As Green and Statham note,' it seems values. It is, of course, true that parents' decisions unlikely that prenatal screening would have been over termination are affected by many factors, resourced to the degree that it has been if the pur- including attitudes towards abortion, the degree pose were purely to enable more informed choice, of disability involved in particular disorders, the or if it were expected that most parents of a fetus level of risk and their own personal histories. with an abnormality would choose to continue the However, underlying social pressures, some of pregnancy. Obstetricians' practice of refusing which have already been referred to, strongly amniocentesis unless the woman agrees to a affect people's attitudes. termination in advance, is evidence of a lack of A key social pressure is the oppression ofpeople willingness to support parental choice. with disabilities.'5-17 This affects parental repro- In arguing that the purpose of the existing ductive decisions in several ways. Firstly, able- regime is eugenic, I am not suggesting the bodied people receive negative images of people existence of some conspiracy, on the part of doc- with disabilities and general misinformation about tors, scientists, or the state. Kitcher"3 has dubbed what their lives are like. Parents receiving prenatal the current situation "laissez faire eugenics", in genetic counselling are rarely put in touch with order to capture the way that social "market people who actually live with the genetic disorder forces" result in predictable outcomes, even in question. Secondly, parents are aware of the though everyone still has a nominally free choice.copyright. material aspects of disability oppression: insuffi- I do not claim that the present system is anywhere cient welfare provision, lack of access and near as harmful as the earlier state-sponsored discrimination. Women, who still bear the vast eugenics. Clearly, for many people who wish to majority of responsibility for child care, are avoid the birth of disabled children, it is sharply aware that the extra burden of caring for a experienced as highly beneficial. It is, none the and would no disabled child will fall on them. Lack of adequate less, eugenic, doubt have pleasedhttp://jme.bmj.com/ welfare provision, in particular, will affect not only Galton and his fellow eugenicists. I agree with the child but may create financial problems for the Kitcher that in a utopian future, it might be possi- family, as well as increased stress. ble really to achieve an uncoerced free choice for These social pressures, combined with the atti- everyone in reproductive decisions. However, that tudes of geneticists and obstetricians and the is not the current reality. If we want to achieve the structural bias introduced by routinisation of test- utopia that Kitcher proposes, then, as he points ing, guarantee that allowing parents a "free out, we will be obliged to combat the social forces choice" results in a systematic bias against the that produce laissez faire eugenics. on September 30, 2021 by guest. Protected birth of genetically disabled children, a bias that The purpose of this discussion is to point out can only be called eugenic. In noting this reality, I that the "consumer eugenics", often invoked by am not attempting to deny parents' personal bioethicists as a problem which might, (but, it is experience, free will, or the existence of counter- usually concluded, probably will not) occur in the vailing social forces and resources (which are future is, in fact, different only in scale from the often religious). current regime. It is important correctly to assess I would also argue that the purpose of the exist- the existing situation in order to understand what ing system is eugenic, in that its aim is to reduce an expansion of prenatal testing and PID might the number of births of children with congenital lead to. and genetic disorders. In most countries, as Wertz and Fletcher's surveys have shown, this point is Can PID become widespread? not contested. In some English-speaking and In my view, both social forces and developments Northern European countries, some official state- in genetics point towards an expansion of the cur- ments, such as those of the Nuffield Council on rent system of laissez faire eugenics in the near ,18 assert that the aim of the system is future. However, if this does happen, it will purely to allow parents more informed reproduc- depend on the practice of PID becoming tive choice. On the other hand, equally authorita- widespread, for one simple reason: few women King 179 J Med Ethics: first published as 10.1136/jme.25.2.176 on 1 April 1999. Downloaded from will be prepared to undergo abortion for the sake that the most likely way in which this limitation of avoiding minor or late-onset medical condi- will be overcome is through the in vitro matura- tions, or non-pathological but undesired physical tion of eggs. There is considerable research in this or mental characteristics. area, particularly in the agricultural field, which is At present, PID is limited by technical prob- likely soon to bear fruit. It seems likely that in five lems, such as uncertain reliability, due to potential to ten years it will be possible to remove a small contamination by extraneous DNA. It is often slice of ovary, containing hundreds of eggs, which suggested by scientists that an expansion of can be frozen and matured at will. It has been genetic selection is unlikely, because genetic tests suggested that it may become common practice will be never be sufficiently predictive. It is also for women to undergo such a minor operation in commonly thought that there is a sharp line their late teens, and for the eggs to be stored until between single-gene disorders and the more com- the woman wishes to have children.26 mon multifactorial conditions, and that we will At that point, the only barrier to widespread use never be able to develop predictions of a person's of PID will be the low pregnancy rate of IVF. This predisposition to heart disease, for example. It is may not be a major problem for a number of also argued that whether a person develops heart reasons, since the IVF pregnancy rate is not much disease also depends on environmental factors lower than the pregnancy rate achieved in natural such as diet. fertilisation; the difference is that it is much easier There are two issues here. The first is the to make repeated attempts by natural methods. adequacy of the testing , which will Once the egg supply problem is dealt with, have to assess variations in many different genes. repeated implantations of embryos will not be In fact, there are already gene chips that can look particularly taxing to women. at major in a hundred different genes at If oocyte maturation succeeds, therefore, IVF once.24 25 Genetic testing technology is continually may become a much more accessible choice for improving and becoming cheaper, and it would be normally-fertile couples. At that point, PID may a mistake to expect this not to continue. become potentially accessible to any woman. It is copyright. The second point is that it may indeed be diffi- quite possible that, given the possibilities that it cult accurately to predict not only health status holds for selection, PID may become the technol- but also behavioural and personality characteris- ogy of choice for the conscientious couple who tics from genetic tests. I believe that the jury is still want to make sure they give their baby the best out on this issue. It seems quite likely, however, start in life. It will be relatively easy to market PID that some genes with relatively major effects on as a way to ensure children's genetic health, and as http://jme.bmj.com/ predisposition to important diseases will be a guarantee of a problem-free pregnancy. found. It is almost certain that prediction with an accuracy of two decimal places will never be pos- The eugenic implications of PID sible. But for people trying to select embryos, two If PID becomes more user friendly, and genetic decimal places are unnecessary. Neither will they prediction reasonably robust, what are the impli- be concerned about the uncertainties due to envi- cations? I believe there are a number of features of

ronmental factors. Since in PID they are obliged PID which will encourage an expansion of laissez on September 30, 2021 by guest. Protected to select two or three embryos from the pool of faire eugenics. ten, they will accept a certain amount of The fact that PID operates on embryos rather inaccuracy, and simply try to select the "best" than on an established pregnancy differentiates it embryos that they can find, according to the decisively from prenatal testing, in ethical, legal, information presented to them on the embryo's social and psychological terms. As noted, PID has genetic predispositions. no inbuilt brake on its application for purposes of The other key technical development which will genetic selection, because it does not involve be needed to make PID widely available will be abortion, with all the physical and emotional the ability to obtain multiple eggs in a more user- trauma which that can entail. Embryos which are friendly fashion than in current IVF protocols. still outside the mother's body have a far lower Robertson3 argues, correctly, that most women emotional weight than a fetus which a couple will be unwilling to undergo IVF, which is at least already think of as their baby. uncomfortable and may be dangerous, for the Because abortion is not involved, if PID were to sake of access to PID. A major problem in IVF is become widely available it would deepen the the variable number and quality of eggs which are social pressure on parents to avoid genetic produced by hormonal stimulation of women's disorder and undergo testing. While there is still ovaries, and the effect that this has on women. It is widespread sympathy for a woman who refuses possible that this problem may be solved. I believe prenatal testing or abortion, because she cannot 180 Preimplantation genetic diagnosis and the 'new'eugenics J Med Ethics: first published as 10.1136/jme.25.2.176 on 1 April 1999. Downloaded from kill her child-to-be, it is unlikely there would be ally, it seems likely that it will be possible to select such sympathy for parents who rejected the for desired biological characteristics and apti- opportunity of PID, simply on the grounds of tudes. Given existing trends in our society, such as wishing to leave things to chance. the increasing prevalence of cosmetic surgery, it is A further consequence will be a strengthening naive to expect that either doctors or the state are of the culture of prevention. The option of likely to prevent the use of PID for such continuing with an affected pregnancy will be characteristics, unless a determined effort is made abolished, because most people will think it to regulate PID. Part ofthe problem in attempting wicked to implant an embryo which will develop to do this is that there is little agreement about the into a child with a genetic disorder. Le Bris27 has domain of medicine and a constant process of already suggested that once a gene causing a dis- redefining biological and behavioural variation as order has been detected in an embryo, couples pathological. It is, for example, common practice should not be given the option to implant it. in the USA to prescribe human growth hormone The very fact that the embryo is outside the to short children who have no deficiency of the woman's body, and before the onset of pregnancy, hormone. means that the argument for "a woman's right to In summary, in PID, the combination of the choose" is weakened, and the decisions over the lack of need for abortion and the availability of embryo's fate become much more open to multiple embryos creates a radically different intervention from male partners, doctors and situation from that of prenatal testing. Allowing society at large. In particular, the site of PID, the selection between a number of embryos, before IVF clinic, means that doctors will have a much pregnancy has commenced, creates an entirely greater say than in prenatal testing.28 In the IVF different attitude towards reproduction from pre- clinic, decisions over which embryos to implant natal testing and abortion, which serves merely to are controlled by medical expertise, in contrast to deal with serious mishaps. In PID, parents adopt a the genetic counselling situation, where the couple far more pro-active, directing role, choosing their decide. Since it will be so easy to prevent disabil- children in a way which is not so far removed fromcopyright. ity, doctors will tend to feel a greater responsibil- their experience as consumers, choosing amongst ity to the child than with prenatal testing. Preim- different products. plantation diagnosis thus represents a new intensification of the medical surveillance of What's wrong with consumer eugenics? human reproduction, which would institute a far There are a number of reasons why an unre- more preventive regime than currently operates stricted free-market eugenics would be highlyhttp://jme.bmj.com/ for prenatal testing. undesirable. Firstly, selecting the "best" amongst The second important aspect of PID is the multiple embryos sets up a new relationship multiplicity of embryos available for selection. between parents and offspring. As illustrated in a Since most couples aim for a small number of recent play, The ,33 such children are likely to children, a likely consequence will be the develop- feel that the essence of themselves, in an ment of a culture of choosiness: since some important sense no longer belongs solely to them, embryos must be chosen above others it will since it has been overseen by their parents, using on September 30, 2021 by guest. Protected appear common sense, and "in the best interests the all-seeing eye of genetic technology. They are of the child" to pick embryos with the "best" no longer a gift from God, or the random forces of genetic profile. This would, in effect, be a system nature, but selected products, expressing, in part, of positive eugenics, in contrast to the negative their parents' aspirations, desires and whims. As eugenics we have now. Kahn has noted in reference to cloning34: Another part ofthe culture of choosiness will be a tendency to eliminate those embryos which may "Part of the individuality and dignity of a person result in children with relatively minor, curable or probably lies in the uniqueness and the unpredict- late onset conditions. Strong,2" for example, citing ability surrounding his or her development. As a reproductive freedom, argues that there is no result, the uncertainty of the great lottery of problem with using PID for such conditions. constitutes the principal protection for There have also been discussions30 of the possi- human beings against biological predetermination bility that parents will opt for elimination of imposed by third parties, including parents. One embryos that are heterozygote carriers of disorder of the blessings of the relationship between genes, on the grounds of sparing the individual parents and their children is their inevitable difficult reproductive decisions in the future, or of difference, which results in parents loving their eliminating such genes from the gene pool. Such children for what they are, rather than endeavour- carriers will generally be entirely healthy. Eventu- ing to make them what they want." King 181 J Med Ethics: first published as 10.1136/jme.25.2.176 on 1 April 1999. Downloaded from

At a social level there are further undesirable con- example, would prefer their children not to have sequences. Opening the human gene pool to the tendencies towards being fat; being overweight is a winds of social market forces on a large scale risk factor for many diseases including heart might have a number of effects. Clearly, there is disease and diabetes. Should we allow free access likely to be a tendency for parents to select to genetic testing for obesity? We do not have suf- offspring which conform best to social norms, ficient understanding of human to allow with regard to health and physical ability, appear- us to judge the evolutionary value of genes, which ance and aptitudes. Disabled people have often in existing societies produce disease. expressed fears that an expanded free-market eugenics would correspondingly lessen society's tolerance for those with congenital and genetic Conclusion disorders. While it may be true in theory that there At present, the major barriers to the routine use of is no moral inconsistency between respect and PID are technical. Although it is by no means cer- support for disabled people and attempting to tain that such barriers will be surmounted, prevent their birth, in the real world, and in the current scientific trends suggest that we should minds of prospective parents, the two things are not be complacent. If it becomes more user intimately related, as discussed above. It is friendly, and the present climate of reproductive difficult to believe that in a society which had liberalism continues, PID might be widely pro- overcome its fears of disability and truly consid- moted by private clinics. Widespread access to ered disabled people as equal members of the PID would not merely be a necessary condition community, there would be such an interest in for a radical expansion of laissez faire eugenics; prenatal screening. different aspects of PID would actively encourage As the examples of treatment of short children such an outcome. with growth hormone, and the use in some coun- Clearly, there is a need for specific regulation of tries of prenatal screening for selection against PID. In addition to the usual requirements of females illustrate, some of the social market forces competence and safety, Le Bris"7 argues that labo- copyright. which operate are inherently oppressive. It is also ratories which conduct PID should be in the pub- possible to imagine selection on grounds of IQ, lic sector, ideally in teaching hospitals, and that colour, physical build and facial features, etc. there should be adequate provision of genetic It does not seem desirable to allow such forces to counselling. The key issue, however, and the most operate at the level of selection of who is permit- difficult question is: for which conditions should it be permissible to conduct PID. There is currently ted to be born. Rather, we should combat the http://jme.bmj.com/ social forces which lead us to disvalue some indi- little discussion of this issue. As noted, there is a viduals and idealise others. tendency to assume that, since it is so easy to dis- As Silver has recently expounded,35 a logical card embryos when others are available, there is consequence of a system of free-market eugenics no ethical problem in selecting against relatively in societies where large disparities of wealth and trivial medical conditions. However, it is vital that social class continue to exist is a gradual polarisa- we do not allow technical developments to decide tion of into a fundamental ethical and social questions.

society genetically privileged ruling on September 30, 2021 by guest. Protected elite and an underclass. It may be argued that this It is important that we attempt to find some is not a problem related to PID as such, but sim- consensus about where to draw the lines around ply requires us to make PID universally available. the application of PID. Such lines are inevitably While this may be true in theory, it seems unlikely somewhat arbitrary, and there should always be to be realised in practice, particularly in countries some flexibility in individual cases. However, if no such as the USA. Certainly, a guarantee ofuniver- lines are no drawn, it is difficult to see what will sal availability would seem to be a precondition of prevent a progression towards a full-blown allowing widespread access to PID. consumer eugenics. It would be better to dig our It is also important to realise that the line heels in now than to suffer the consequences at a between state eugenics and free-market eugenics later date. is not sharp. It would be perfectly possible for state bureaucracies to intervene in the free market, on David S King, PhD, is the Editor of GenEthics grounds of public health or national competitive- News. ness. Such interventions need not be obvious or require coercion. Finally, in the long term, there are good References 1 Winston R. Preimplantation diagnosis: the clinical issues. Pres- biological reasons for not allowing market forces entation: Ethics ofPreimplantation Diagnosis Conference. London: to shape the human gene pool. Many people, for The Centre for Bioethics and Public Policy, 1998. 182 Preimplantation genetic diagnosis and the 'new' eugenics J Med Ethics: first published as 10.1136/jme.25.2.176 on 1 April 1999. Downloaded from

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