What should we do with donated embryos that may be genetically affected?

Sheryl de Lacey1,2 and R.J. Norman1

1 Reproductive Medicine Unit, Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia, 5005

2 To whom correspondence should be addressed. e-mail: sheryl.delacey{at}adelaide.edu.au


    Abstract
 Top
 Abstract
 Introduction
 Genetically dubious...
 Informed consent
 The best interests of...
 Conclusion
 References
 
The ethical and legal issues arising from genetic screening in embryo donation are discussed in relation to two recent cases where embryos with uncertain genetic health were offered for donation.

Key words: embryo donation/embryo disposition/ethics/ genetic screening/informed consent


    Introduction
 Top
 Abstract
 Introduction
 Genetically dubious...
 Informed consent
 The best interests of...
 Conclusion
 References
 
An important clinical issue for managing the donation of reproductive material is the genetic and lifestyle screening of donors to prevent the transmission of genetic and infectious disease (Robertson, 1995Go; Borrero, 2001Go). However, genetic screening in assisted reproduction is discussed as if all forms of donation have the same social and ethical outcomes. When genetic screening occurs in oocyte or sperm donation, this may result in the exclusion of a potential donor before gametes are produced. However, genetic screening in embryo donation occurs after the creation of an embryo and therefore the socio-ethical consequences of screening are different. To reject an already existing embryo means destroying it rather than allowing it to reach its potential. In light of increased social sensitivity, divided public views about the destruction of human embryos and increasing political scrutiny of practices involving embryos, Health Care Practitioners (HCPs) need to consider genetic screening more carefully in embryo donation. Their decisions to accept or reject donated embryos must be publicly defensible

Here two recent cases involving genetic screening in embryo donation are used to illustrate the problematic nature of screening practices in embryo donation. It is suggested that the issues of what constitutes reliable genetic screening practices, acceptable risk and a recipient’s or child’s best interests in this situation are contentious matters for professional and public debate.


    Genetically dubious embryos—a quandary
 Top
 Abstract
 Introduction
 Genetically dubious...
 Informed consent
 The best interests of...
 Conclusion
 References
 
In two recent cases, the response of couples who chose to donate their surplus embryos stimulated debate about whether HCPs should accept all embryos for donation—regardless of their genetic health. In both cases, a child from the same batch of embryos was noted to have congenital symptoms suggestive of a genetic disorder. A referral for genetic consultation was unhelpful. The collection of symptoms was not linked with a genetic syndrome or family history and, in one case, could have been associated with being a third triplet. Because the aetiology of the symptoms was unable to be determined, the possibility of surplus embryos from the same batch being affected was unable to be determined. Nor was the degree of risk for a recipient able to be calculated. As practised in similar cases, the HCP recommended discarding the embryos. However, contrary to the response of other patients, the couples became distressed and refused to discard them. One patient accused the HCP of devaluing her existing daughter’s life and the joy she had brought her parents. When informed that the clinic could not offer the embryos for donation, one couple independently advertised for a recipient. The clinic subsequently confronted the possibility that they would be asked to manage a donation carrying an uncertain risk. In multidisciplinary discussion of the situation, several issues emerged and were discussed. We discuss the issues raised in these cases and critically examine them in relation to empirical evidence, philosophical concepts and legal opinions.


    Informed consent
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 Abstract
 Introduction
 Genetically dubious...
 Informed consent
 The best interests of...
 Conclusion
 References
 
There has been a recent trend worldwide for infertile couples to advertise for gamete donors and adoptive parents in the personal columns of local newspapers or via the Internet. The right of gamete providers to decide the fate of their genetic material is considered to be fundamental (Pennings, 2000Go). When one couple advertised for a recipient, they exercised their legal authority to determine the fate of their embryos.

At the centre of the doctrine of informed consent is the legal principle that the right of a competent person to refuse medical treatment is virtually absolute (Kuczewski, 1996Go). Translated to this case, the patients’ refusal to discard their embryos is binding. Therefore, the HCP is legally obliged to honour their wishes and continue storage of the embryos. However, these embryos would have a limited storage time before being discarded according to legal regulations. Thus one view is that the HCP could agree to continue the storage of genetically dubious embryos and simply wait for the legal time limit to occur and discard them. However, this is hardly honouring of the donors’ wishes.

Advance directives
Much attention has been given in policy and codes to obtaining written advance directives for stored embryos (Pennings, 2000Go), and ethical guidelines for best practice indicate that the preferences of a couple/patient who generate an embryo must be respected (Fertility Society of Australia, 2002Go). It is apparent that patients who choose to donate their embryos do so because it is important to them that their embryos have a chance at life (Tinney et al., 2003Go). Many patients who make decisions about surplus embryos consider them to be miniature replicas of their existing children (Saunders et al., 1995Go; Cooper, 1996Go; McMahon et al., 2000Go, 2003). They therefore care deeply about what happens to their embryos (Warnock, 1985Go). Other options available to them for embryo disposition have the ultimate outcome of embryo destruction, and avoiding this constitutes a reason for selecting embryo donation over other choices. It does not follow that an excess embryo has an absolute right to life (Kuhse, 2001Go); however, a view is that the embryos should be given if not the right of life, at least the opportunity for it. Just as there are couples in the community who seek to adopt disabled infants with ‘special needs’, so too may there be infertile recipients who would be willing to risk having a child with congenital disability.

Competence
When recipients are willing to take such a risk, should HCPs accept this as a fully rational choice? A view is that the competence of infertile recipients to make a rational choice about the risks of having genetically dubious embryos transferred may be affected by their desperation for a child and by emotional persuasion when the donor is the first point of contact. In other words, if infertile recipients chose to accept a genetically dubious embryo, they were construed as having faulty capacity for judgement by virtue of their infertility.

A dominant cultural belief in western societies is that responsible parents would choose to terminate or intervene in a pregnancy when fetal abnormality is detected. At a clinical level, HCPs are prepared to accept patient decisions as rational if they fit the dominant view of responsible decision making. However, when patients exercise their autonomy in making choices that do not fit what is generally considered to be responsible, HCPs resort to arguments that their judgement is clouded by social pressure and emotional vulnerability. No correlation between feelings of desperation and legal competence has been empirically demonstrated. On the contrary, competence to consent evidently is related to factors such as age and high school completion and not emotional distraction or disorder (Casarett et al., 2003Go). The construction of infertile patients as desperate by others is now widely viewed as patronizing and obscured by gender politics (Pfeffer, 1987Go; Franklin, 1990Go; Sandelowski, 1990Go). Further, while recipients may be influenced by the views of donors, so might they be affected by the views of HCPs in consent practices (Dickens, 2001Go).

Just as it has been shown that women do not always choose to pursue genetic testing and termination of pregnancy, it cannot be assumed that recipients will reject embryos that may be affected genetically. The choice to risk congenital consequences should not automatically be judged as ill informed, irrational or as just plain bad decision making. However, any decision should be assessed for its authenticity in relation to the appreciation of risks, especially where there are uncertain consequences.

Appreciation of risk
An extension of the view about competence is a view that the recipient’s capacity to appreciate risk will be affected by ignorance about (i) the congenital condition and the degree of risk; and (ii) the social experience of parenting a disabled child.

Genetic screening typically relies on the HCP taking a family history and placing this in the muddy context of a still accumulating body of evidence about genetically determined conditions. The genetic parameters of a single situation are too numerous and the relationships too complex for prediction and diagnosis (Bateman, 2001Go), even while family trends (such as breast cancer, schizophrenia and Alzheimer’s disease) are highly suggestive. Only preimplantation genetic diagnosis (PGD) provides a reliable diagnostic test for genetic conditions in embryos that may affect children. However, while PGD is a promising technique in the genetic screening of human embryos for disease, it does not yet offer screening for all the conditions in which a genetic component is suspected.

Where genetic aetiology is unable to be determined, the outcome for surplus embryos in either of the cases above cannot be reliably predicted. Therefore, the degree of risk for a recipient can only be speculated on. Nevertheless, recipients must be warned of the risk and must make as fully an informed consent as is possible in this context. To fully appreciate the possible risks and social consequences in such an uncertain situation, the widest possible exposure to information is desirable. Referral for a genetic consultation is imperative, but other innovative strategies might be employed. For instance, the strategy of introducing matched donors and recipients is practised in New Zealand. It may also be useful for recipients to have access to the parenting knowledge and experience of the embryo donor in such cases as those referred to here.

In the face of these difficulties in informed consent and caught between them and the donor’s wishes, it may seem to HCPs that the simplest solution is to discard dubious embryos on the grounds that they are ethically and legally bound to consider the best interests of a child to be born important, if not paramount. However, it is not an easy matter to justify that the unconceived child’s interests would be not to be born at all (McGivern, 2002Go), especially in the face of embryo donors who highly value the life they have given to embryos from the same batch.


    The best interests of children
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 Abstract
 Introduction
 Genetically dubious...
 Informed consent
 The best interests of...
 Conclusion
 References
 
There is a widespread assumption that the best interests of children are to be born able-bodied (including intellectually abled). However, Morreim asks, ‘Can we assume that children born with impairments and maladies are harmed?’ (Morreim, 1988Go). In medical terms (where a biologically describable standard of structure, function and human ability is applied), physical and intellectual disability is defined as pathological (Marzano-Parisoli, 2001Go). Pathology is defined as harmful if it threatens the life of the individual or the community. However, congenital disability is defined by social theorists as a malfunction that is not life threatening—to individuals or the community. Marzano-Parisoli’s view is that we should consider congenital disability as a form of difference and not a form of pathology. She defines congenital disability as

...a difference that can sometimes be very difficult to live with but that, at the same time, may also be a source of knowledge; a difference that sometimes prevents disabled people from being completely autonomous, but that, at the same time, may not prevent them from being happy; a difference, lastly, that does not imply that the life of a disabled person is not worth living, because her life, even when it is difficult and different, has the same intrinsic value as that of all other ‘healthy’ and ‘normal’ persons (p. 640).

Therefore, whether they are considered within a medical framework or within a psychosocial framework, what is considered to be a child’s best interests differs. This difference is also evident in the legal consideration of claims of wrongful life.

Negligence and wrongful life
While they may be considered earlier, a child’s rights crystallize upon birth. Therefore, even in the presence of rigorously applied processes of informed consent, the child itself may later bring a suit against the HCP for wrongful life. According to tort litigation, suits for wrongful conception depend on proving that the HCP owed a duty of care to the child of a certain standard, that the duty of care was breached, that injury occurred and the breach of duty caused the injury (Morreim, 1988Go). The issue of determining whether a congenital injury was caused would be complex in the cases outlined above since there is uncertain aetiology of the disorders of children born in these cases. If a claim was brought by an affected child born from an embryo of uncertain genetics and if that claim was one that the child ought not to have been born at all, there would be significant legal difficulties in making that claim successful (Morreim, 1988Go; McGivern, 2002Go). It is the view of some courts that we cannot reason what it would be like to have never existed. Moreover, in monetary terms, since there would be an absence of measurable and therefore comparable pre- and post-injury states, it would not be possible to make a fair and non-arbitrary appraisal of damages (Morreim, 1988Go). It is therefore likely that the courts would determine that life, even if with severe defects, is not an injury (McGivern, 2002Go). Arguments to discard the embryos on the grounds that a child’s best interests are not to be born at all rather than to be born in the presence of incalculable risk of a congenital condition are therefore weak.

Public health or eugenics?
As scientific custodians of the genetic material, HCPs have arguably been accorded the role of gatekeepers for public health and are therefore obliged to reduce, limit or eliminate genetic disease and disability according to public expectations. However, this entails limiting the autonomy of individual donors and recipients (O’Neill, 2003Go) on the grounds that a child’s best interests are best met by not being born as opposed to being exposed to minor or even extensive risk of being congenitally affected. One public view is that HCPs should not be allowed to ‘play God’ with genetic screening. Since PGD is not yet a precise or comprehensive diagnostic tool for genetic screening (ESHRE PGD Consortium Steering Committee, 1999Go) and since congenital disability is not uniformly considered to be harmful as argued above, screening decisions may be considered by the public to have eugenic overtones (Bateman, 2001Go). In the current social context, the distinction between practices claimed to enhance healthy outcomes for the good of the community as a whole and practices claimed by others to be socially eugenic and discriminating is subtle. It is far from clear whether the public would support the paternalistic destruction of embryos suspected of carrying congenital disability, since this is not uniformly viewed as pathology and disease. Moreover, since congenital disability is viewed by some to be social difference, to eliminate embryos on these grounds opens a Pandora’s box of ethically contentious conditions that might be subject to judgements in screening.


    Conclusion
 Top
 Abstract
 Introduction
 Genetically dubious...
 Informed consent
 The best interests of...
 Conclusion
 References
 
The clinical context of embryo donation is complex, and decisions made in the genetic screening of donors are fraught with competing interests that must be managed sensitively. Genetic screening is as yet insufficiently developed to be a reliable diagnostic tool for embryo donation. As a result, what conditions constitute sufficient harm to render a child’s non-existence preferable to its existence and therefore warrant destroying an embryo is yet to be determined and is publicly contentious. HCPs must walk a fine line between what is considered reasonable protection of the community and what is considered socially eugenic practice. Embryo donors have been accorded the authority to determine the outcome for their embryos and may exercise this authority by orchestrating their own arrangements with recipients. However, when the risks of transferring dubious embryos are high, the question of whether the HCP should agree to collaborate emerges. Moreover, the question arises as to what grounds would be publicly acceptable for refusal. Besides being vulnerable to claims of negligence, HCPs are also vulnerable to claims of unjustified discrimination.


    References
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 Abstract
 Introduction
 Genetically dubious...
 Informed consent
 The best interests of...
 Conclusion
 References
 
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Submitted on December 8, 2003; accepted on March 1, 2004.