Medical-ethical problems in prenatal and preimplantation genetic diagnosis
Gonzalo Herranz. Professor of Medical Ethics. School of Medicine. Departament of Bioethics. University of Navarre
Intervención en la Academia Pontificia para la Vida. Roma, 1997
(Texto preparado para publicación)
1. The human meaning of biochemical and morphological malformations
2. The medical ethical meaning of PNGD
3. The ethical confrontation around PNGD and PIGD
a. Quality vs. sacredness of life
b. Acceptance vs. termination of handicapped life. The economic burden
c. Concerned vs. carefree happiness: the familial and medical framework
d. Genetic diagnosis: medical service vs. eugenic consumerism
4. The relationship between prenatal age or size and ethical status
5. Two special problems: cloning and blastomere biopsy
a. Cloning as the forbidden ideal of genetic control on offspring
b. Blastomere biopsy or embryo splitting? The totipotency question
From an ethical point of view, prenatal genetic diagnosis (PNGD) and preimplantation genetic diagnosis (PIGD) are situated in a very complex field of social, scientific and ethical forces, which generates much reflection, debate and even opposition.
In fact, PNGD is permanently stressed between respect for (genetically damaged) human beings and the tyranny of normalcy. In the real world, there is an unavoidable ethical connection between PNGD and PIGD on one side, and, on the other, the alternative between acceptance or elimination of the victims of genetic disease. PNGD is, therefore, dangerously related to eugenics, frequently masked under the disguise of reproductive confidence32.
The debate on PNGD revolves around the unending dispute about the ethical statute of the human embryo, the clash between those believing that the human being is invested with dignity from his or her very beginning, and those proposing that human worth is granted to the human being in virtue of a gradual and progressive acquisition. For the former, PNGD and PIGD are applied to beings which, by their condition of imago Dei, demand from us a constant and utmost respect; for the latter, a soft variant of ‘profound respect’ for the unborn is age- or size-dependent, increases from zygote to full term, or from the ‘unformed’ early pre-embryo to the developed foetus with human appearance7.
At the same time, PNGD and PIGD are outstanding examples of technical proficiency. Doctors and people alike are frequently the victims of the technological imperative: diagnostic procedures ought to be applied for the mere reason that they are at our command, because they give a more sophisticated appearance to our actions and, finally, because to abstain from them could appear timid or unfashionable.
The preceding remarks are sufficient to show two points. First, that the future of humankind shall be fashioned by the attitudes we adopt in relation to PNGD and PIGD. The way we envisage man and ethics will be determined in some measure by the frame of mind we adopt, individually or collectively, towards the genetically handicapped living among us or to the unborn blotted with defective genes; and also by the power we bestow on doctors and their diagnostic technologies as controllers of the quality of human life. And second, that no neutral discussion of PNGD or PIGD can be attempted at present, because in so fundamental a matter no third way can be found between the ethics of respect and the ethics of power.
This paper intends to offer some insights on certain ethical problems around PNGD and PIGD. Since the technical and professional aspects of the different procedures (indications, information to parents, risks, accuracy of results, genetic counselling) are dealt with in the accompanying paper by T. Hilgers, no reference will be made to them in this contribution. Renouncing to any pretence of covering the whole matter, attention will be directed mainly to some ethical problems surrounding PIGD, because it reveals in a paradigmatic manner the ethical issues around PNGD. Being this article written not by a philosopher or a theologian, but by a medical doctor and a faithful Catholic, a committed professional and religious outlook determines its contents and structure.
In the Encyclical Evangelium vitae, John Paul II qualifies prenatal diagnosis as a complex situation which demands an accurate and systematic moral judgement. The Pope acknowledges candidly and clearly that PNGD is placed in the strong field of moral and social tensions, where the attitude towards anomalies in the unborn child divides the hearts of humankind. The conditions for the application of prenatal diagnostic techniques are acceptable, says the Encyclical with wisdom and compassion, “when they do not involve disproportionate risks for the child and the mother, and are meant to make possible early therapy or even to favour a serene and informed acceptance of the child not yet born”. In turn, the ethos of rejection of the genetic handicapped is condemned in reason of its intolerance towards suffering and its tyrannical imposition of the normal: “But since the possibilities of prenatal therapy are today still limited, it not infrequently happens that these techniques are used with an eugenic intention which accepts selective abortion in order to prevent the birth of children affected by various types of anomalies. Such an attitude is shameful and utterly reprehensible, since it presumes to measure the value of a human life only within the parameters of ‘normality’ and physical well-being, thus opening the way to legitimising infanticide and euthanasia as well”19.
Three recent reviews from a Catholic perspective have been published recently on the matter by members of the Pontifical Academy for Life. One by Serra and Bellanova who reviewed recently the procedures for prenatal diagnosis of chromosomal anomalies in the human. This well researched and reasoned article offers, besides an accurate presentation of the technical and scientific aspects of PNGD, a praiseworthy evaluation of their uses and applications37. Another, by Bompiani, who in discussing the ethical aspects of PIGD, arrived to the basic conclusion, with which I agree, that any ethical judgement on the matter must dwell on the serious consideration of the ontological status of the human embryo4. We have a third and valuable source of information: a report on genetic intervention on human subjects, produced by a Working Party of the (UK) Catholic Bishops’ Joint Committee on Bioethical Issues. Although it refers more to genetic therapy than to genetic diagnosis, it contains some insightful thoughts on the applications of genetics to the human49. Having at our disposal so well documented and clear statements from where to get basic information on the Catholic view on genetic diagnosis and therapy, I feel free to devote my intervention to some specific points which, in my view, are in need of comment.
1. The human meaning of biochemical and morphological malformations
Seen from a human and humane perspective, biochemical and morphogenetic malformations besetting human beings are diseases in need of care, the same before as after birth. They affect people, some of them unborn. The mandate of non-discrimination forbids any substandard care in confront of them. Medicine, as a human endeavour, does not permit that considerations of age, disease or disability, among others, intervene between the doctor’s duty and his or her patient. And the recently approved UNESCO’s Universal Declaration on the Human Genome and Human Rights46 establishes that “Everyone has a right to respect for their dignity and for their human rights regardless of their genetic characteristics”. It can be supposed that such a human right is conferred on each human being from the moment in which his or her own genome is constituted.
Besides such general ethical norms, I would suggest that, on the basis of the specific right of genetically defective people to be respected and not discriminated, there is an important biological foundation. Human genome as human heritage has not only a symbolic juridical meaning, as the UNESCO Declaration states solemnly. It has also a real and material value, in the sense that it makes all of us specifically human and splendidly different; it confers on us the full complement of human traits, with its accomplishments and advantages, and also and inevitably with its minor blemishes or its major blunders.
There is, in the scientific community and among the general public as well, a deep lack of discernment on the biological meaning of genetic error as a constant constituent of heredity. In last analysis, such lack of understanding affects everyone’s respect for people affected by genetic anomaly. Such a respect is not only a question of humanitarian kindness or religious compassion. It is also a matter of biological fellowship and common sense. As Lewis Thomas45 has put it with humour and insight “To err is human, we say, but we don’t like the idea much, and it is harder to accept, the fact that erring is biological as well”. In medical schools, genetic diseases are mainly dealt with not as human diseases, but as mere disadvantages, arising as DNA molecular mishaps and reduced to the mechanistic explanations of biochemical or cellular damage.
Nothing or almost nothing is said about the fact that, at the molecular, cellular and organismic levels, the processes that encode and transmit genetic diseases are the same that underlie the marvellous fact of human diversity and the not lesser wonder of the transfer from generation to generation of human hereditary traits. It has a price to make all of us different and at the same time the children of our parents: the risk of making us vulnerable to occasional molecular pitfalls, to genetic flaws, which are transmitted with the same constancy as normal features. A not too high fee.
In scientific education at every level, from schools and the media to universities and research institutions, this idea ought to be taught tirelessly. The acceptance and care of genetically handicapped people is not only a matter of human concern and moral courage which only a few of us can possess: it is primarily a question of biological justice obliging all of us. The building of a culture of life, and of respect for genetically defective life, begins with this sense of obligation towards our biological roots: genetic disease is not inflicted by foreign agents, but by our own constitution, by the manner we are built. In this light, a culture of eugenic selection appears not only as grossly egoistic, but as lacking in biological solidarity: it is not fair to reap only the profits of genetic gain and not accept the risks and charges of genetic loss.
On different grounds, genetic derangement makes us human. First, because genetic disease, as part and parcel of the human condition, remind us of our vulnerable nature, marked from its inception with weakness and fallibility. Second, because it offers us countless opportunities to help those whose suffering presence is an invitation to compassion, one of the main factors of the general process of humanisation14. And third, because it stirs the social feelings of solidarity in the search for humane and efficient ways of treating the people afflicted by genetic disease, and prevents us from succumbing to the temptations to neglecting or abandoning them.
2. The medical ethical meaning of PNGD
Although the idea of human life as a continuum has been instrumental for establishing arbitrary (and paradoxically discontinuous) levels of dignity and rights, the genuine medical ethical correlate of the biological continuum of human life is necessarily an ethical continuum of medical respect. When doctors proclaim, at the time of being admitted as members of the medical profession, the Geneva Declaration of the World Medical Association as their pledge, they promise that they will not permit that considerations of age, disease or disability intervene between their duty and their patients51. Face to face with the human unborn, medical doctors see him or her as a one of their patients. There is already a nascent embryo-foetal medicine, a medical speciality conditioned by the peculiarities of the biology and pathology of the human unborn.
PNGD enters so in the field of medical practice, and, as any other medical intervention, it is bound by the ethical mandate of not doing harm. It must also be guided by the medical virtue of phronesis31, which means that it has its medical indications and its medical purpose. As the Charter for Health Care Workers of the Pontifical Council for Pastoral Assistance to Health Care Workers34 summarises with unusual precision and concern, “the objectives for which prenatal diagnosis is requested and practised should always be for the benefit of the child and the mother; their purpose is to make possible therapeutic interventions, to bring assurance and peace to pregnant women who are tormented by doubts about foetal deformations and tempted to have an abortion, and to prepare, if the prognosis is an unhappy one, for the welcome of a handicapped child”.
In the great majority of cases, PNGD brings with it a message of reassurance. When it discovers the presence of genetic disease, PNGD can help parents to prepare themselves for the care of those weak among their progeny, or to accept its premature loss. PNGD can urge doctors to fulfil the professional and humane tasks of curing or alleviating genetic anomalies, to search for new and humane ways of preventing them, and to investigate their pathogenesis and mechanisms. PNGD is bound to contribute to the creation of a just and truly compassionate society, not only free of discrimination against the weak, but compassionate and concerned for their care.
Paradoxically, PNGD is being used mainly against life. Instead of strengthening the respect for the victims of genetic disease and including them among the ranks of patients, PNGD is being frequently used as the trapdoor for their elimination as unwelcome and too expensive people. In fact, eugenic mentality is becoming the undisputed and official orthodoxy among human geneticists. The principled opposition of many Christians to eugenic abortion is being denounced in scientistic circles as paradoxical and contrary to the current opinion13. A long battle is to be fought in the foreseeable future around this issue.
In parallel to the declarations of human rights of psychologically underprivileged people, I think it is necessary to develop a bill of human rights of genetic patients, to remind the whole society of its obligations toward them. The United Nations Declaration on the Rights of the Mentally Retarded Persons47 could be the point of reference for such sister Declaration on the rights of genetically defective people. Some years ago, the rights of the people with Down’s syndrome were proclaimed: in the drafting and diffusion of this remarkable document played an active and inspiring role our beloved friend the late Prof. Jerôme Lejeune40. In the course of a joint conference in Strasbourg, sponsored by the International Association of the Friends of Childhood, I proposed to a representation of members of the European Parliament and the Parliamentary Assembly of the Council of Europe the addition to the Convention for the Protection of Human Rights and Fundamental Freedoms of a new Protocol introducing a new human right: the right of genetically defective people to be respected as such, that is, the right to be wrong, to be blemished with physical or mental handicap, and to be respected despite that and because of that15. Some groups are mobilising societal resources for the full protection of defective people, and for public recognition of a “right to be different”5.
In our times so tolerant of social and moral deviance and so careful of political correctness, refusing the acknowledgement of the basic rights to genetic diseased people is simply a hideous injustice to be frowned upon in every circumstance.
3. The ethical confrontation around PNGD and PIGD
In this section, I intend to offer a brief consideration of some of the main dimensions of the ethical professional debate around PNGD and PIGD. The medical indications for genetic diagnosis and its use in the clinical setting are determined by the consideration given to some societal and ethical issues and, above all, the value invested on the human value of genetic handicap. The topics here considered are the confrontation between quality and sacredness of life, the economic burden derived from handicapped life, the social and familial acceptance of genetically defective people, and the role of genetic services as seen from a consumeristic outlook.
a. Quality vs. sacredness of life
PIGD is necessarily connected to human artificial reproduction. The public image of reproductive medicine is one of miraculous efficiency: it has the potential to provide the sterile couple with test-tube babies of assorted origins. But the children, as products of advanced technology, must be healthy to be the joy of their parents and the pride of the doctors. Severe genetic defects are not acceptable in those children, so intensely wanted and produced at so high a cost of money and effort. In the context of assisted reproduction, PNGD and PIGD are, therefore, among the efficient tools needed to obtain certified offspring of satisfactory quality.
Reproductive medicine is deeply influenced by the ideology of the quality of life. Consequently, many doctors have a strongly biased attitude against human deficiency and suffering. They feel as their duty to prevent genetic disease in test-tube babies, even at the price of eliminating some of their unborn patients. When PNGD reveals a genetic abnormality, eugenic abortion allows the parents a new trial, the sooner the better. For people with high risk of genetic disease, the ideal is to combine in vitro fertilisation with PIGD tests to select a healthy offspring from the very beginning.
When the unrestricted ideology of the quality of life prevails over the sense of the sacredness of life, eugenic abortion is never rationalised as the killing of a human being, but as a highly professional preventative service, masked under the respectable label of secondary prevention of genetic disorders. The consequence at short term, widely spread in prenatal medicine, is the usual and straightforward resort to eugenic abortion as an essential element of the state of the art. Without further reflection, the diagnosis of genetic abnormality is automatically bound with termination of pregnancy. Things happen as if a policy of “search and destroy” were the orthodoxy of the day and the measure of professional skill. With the intention of diminishing the suffering of parents, a planned and merciless suppression of defective children is carried out.
Fortunately, there are many couples that, professing reverence for life and making a truly responsible decision, accept unconditionally their genetically damaged children, whatever their prospective postnatal viability could be. This is one of the more surprising aspects of the celebration of life: the deep love and affective bonds linking parents and siblings to genetically defective persons. There is a long tradition, human and Christian alike, in the practice of medicine and in the exercise of charity, of caring for the handicapped. In different ways such tradition is rooted in the inexhaustible richness of compassion for the weak among us, which the expression Res sacra miser describes exactly: the merging of the dignity of the sacred of man with the compassion for extreme frailty. Res sacra miser means that human life, genetic-defective life included, is always worth and inviolable.
b. Acceptance vs. termination of handicapped life. The economic burden
Intolerance to handicapped life is depressingly widespread. Frequently, genetic disease affects more deeply the parents of its victims than to the victims themselves. The life of parents or other family members of the handicapped is shadowed by feelings of failure, by the pain of having engendered severely enfeebled children, and by the daily torment of caring for them without gratification. Such attitudes enhance intolerance toward defective life and prepare the emotional climate for the acceptance of PNGD or PIGD as mediators eugenic abortion as a special type of secondary prevention. Then, preventive medicine suffers a radical change. It shifts its target: instead of devoting its energies to increase the number of persons who do not get sick it searches the elimination of the persons who would have been sick by depriving them of their existence.
Very frequently, economic reasons play, together with others more emotional in nature, a decisive role in the information given by doctors to parents to help them in their final decision28. One of the main arguments forwarded in favour of PNGD is its high economic efficiency both as a screening procedure of populations at risk, and as a tool for the diagnosis of the offspring of families affected by genetic disease. Prospective parents are presented with information about the cost of PNGD and “preventive” termination of pregnancy as compared with the cost of special health care and the education of children with genetic defects. The precedent established by the Royal College of Physicians of London on economic choices for screening of Down’s syndrome has become the term of reference for many new studies36. The language of money, not only in abstract calculations, as Shackley has established by applying to prenatal diagnosis the principle of willingness to pay38, but also in the clearer language of current monetary units, is very persuasive both for parents48 and for health authorities8. The cost of screening is likely to drop if it becomes routine29. Taken for granted their good intentions, one asks how is it possible that the authors did not realise that they were putting price to the lives of people?
As financial aspects of medical diagnosis and therapy are becoming part of the information the doctor must offer to decision making by the patient27, it is easy to understand how difficult it is becoming today unbiased genetic diagnosis and counselling. In some guidelines, it has been established, on cost-benefit reasons, that testing must not be offered to couples or women who do not give complete assurance that they will terminate a pregnancy when there is an increased risk of Huntington disease50. Economic practicality on the side of doctors, allied to egocentric compassion on that of parents, can produce a strong intolerance to the victims of genetic disease.
c. Concerned vs. carefree happiness: the familial and medical framework
The reality of acceptance of genetically handicapped life is a motive of pride. The affirmation of the intrinsic worth of every human individual, made by the victims of genetic disease themselves and by their careers, is one of the most moving arguments for the absolute value of human life. In Evangelium vitae (63), the Pope19 tells to people of good will: “And yet the courage and the serenity with which so many of our brothers and sisters suffering from serious disabilities lead their lives when they are shown acceptance and love bears eloquent witness to what gives authentic value to life, and makes it, even in difficult conditions, something precious for them and for others. The Church is close to those married couples who, with great anguish and suffering, willingly accept gravely handicapped children. She is also grateful to all those families which, through adoption, welcome children abandoned by their parents because of disabilities or illnesses”.
Acceptance of genetic damaged life is a very widespread phenomenon, acknowledged only rarely in main-stream medical publications9. Occasionally, as happened recently in Spain, when an international meeting on Down’s syndrome was held, people can see in the television and the newspapers an encouraging picture of parents, children, social workers and doctors approaching with love and cleverness what others see with scorn and denial. But only rarely a medical journal offers its pages to the testimony of people showing the enormous psychological distance separating acceptance and rejection of congenital anomaly30.
The threshold for genetic abnormality is being arbitrarily manipulated by physicians in their own interest, with the complicity of the lax interpretation of law23. In fact, a legal haze surrounds the status of the foetus: some laws offer it a weak protection, while others authorise almost its arbitrary and wilful destruction41.
How subjectively the life of the unborn is judged by doctors can be observed in the privileged follow up given to pregnancies after different procedures of assisted reproduction, always more intensive that that granted to ordinary pregnancies. The danger of a judicial claim for wrongful life weighs heavily on the specialists of assisted reproduction, and the recourse to eugenic abortion is the way to prevent both the birth of defective children and malpractice lawsuits. For example, in a recent article commenting on the higher prevalence of sex chromosomal anomalies after treatment with intracytoplasmic sperm injection demonstrated by means by PIGD or PNGD, it is concluded that “while the final choice about continuation or termination of a pregnancy should always remain with the parents, it is the obligation of the counsellor to provide a realistic -and this for most sex chromosome anomalies is a mostly optimistic- picture of the condition to be expected in the offspring”24.
The eugenic rejection attitude can become harshly intolerant. The idea has been suggested, by judges and ethicists alike, that deliberately not destroying before birth a severely handicapped child could be assimilated to deliberate negligent foetal abuse by the parents39. In fact, there is a diffuse social disapproval, if not of the acceptance by the parents of a handicapped child, at least of the public presence of the malformed. The slogan “every child a wanted child” leaves a very short space to the defective offspring, because with the help of PNGD it could be suppressed.
d. Genetic diagnosis: medical service vs. eugenic consumerism
The alliance between morally misguided eugenics and marketing driven reproductive technologies menaces to pervert the true meaning of human sexuality and procreation. The capricious use of assisted reproduction and genetic selection and enhancement will deprive human genetics of its true human dimension. There is no lack of delusional thinking on the promises of eugenic consumerism16. An anonymous doctor has predicted that early, in the XXI century, sex will be for pleasure only, and conception will take place in the medical setting; the procreation of (wanted) children will be a lab activity, because routine testing to secure healthy infants is a desirable future. Such an odd idea is not new. It had been already anticipated many years ago, when Joseph Fletcher11 proposed artificial and designed reproduction as the way to maximise rationally willed or chosen offspring. He wrote in these terms: “... laboratory reproduction is radically human compared to conception by ordinary heterosexual intercourse. It is willed, chosen, purposed and controlled, and surely those are among the traits that distinguish Homo sapiens from others in the animal genus, from the primates down”. The fanciful nature of such pretence is vividly revealed by what Kass has written, in an almost parodic way20, about what biologist Bentley Glass called the inalienable right of every child to a sound heritage: “... to secure this right, and to achieve the requisite quality control over human life, human conception and gestation will need to be brought fully into the bright light of the laboratory, beneath which it can be fertilised, nourished, pruned, weeded, watched, inspected, prodded, pinched, cajoled, injected, tested, rated, approved, stamped, wrapped, sealed and delivered. There is no other way to produce the perfect baby”.
In the real world, and particularly in the affluent societies, there is a more or less dominant consumeristic attitude. PNGD is being absorbed into the general life-style. The demand for genetic services is being affected by numerous factors, despite the limitations of the new information18. It is easy to imagining that marketing by private companies, the sensationalism of journalists reporting scoops in human genetics, the superstitious approach of both doctors and patients towards the latest technologies, and the aspiration to produce only first class children, can create an insatiable demand. Genetic testing services are not only in risk of being prey to the technologic imperative. In the case of PNGD they are becoming a highly demanded and essential element of the basic information the doctor owes to potential parents. It can be said that, side by side to the technologic imperative, a new cognitive imperative is being developed: all things genetic that is possible to know, must be known. Unborn life loses all its mystery and expectation, to become something that is tailored to planning and wishes.
The precedent of routine ultrasound examination shows clearly that the use of diagnostic procedures in pregnancy is unavoidably expansive, despite their psychological risks and ethical implications1. The availability of easy abortion deprives any diagnosis of immediate dramatism or of long-term consequences. In such atmosphere, genetic counselling becomes biased. Angus Clarke10 has argued convincingly on the difficulties of true non-judgmental genetic counselling, once abortion is legalised: “it is inevitably a sham, not because of a personal failure on the part of the counsellor but as a direct result of the structure of the encounter between counsellor and client”. And, in many places, dominated by the culture of death, independently of what the legal text could affirm about the value of the unborn human life, geneticists and people alike are convinced that termination of foetal life for any reason is legal and, therefore, moral.
Any genetic defect can be considered by the doctor as sufficient ground to suggest or recommend abortion. And the reason, although perverse, is easily understandable: there is a real danger for the doctor of being prosecuted for negligent behaviour if a woman under his care gives birth to a genetically defective child. But no legal precedent of liability is derived from suggesting or recommending an abortion for eugenic reasons, even when the suspected diagnosis subsequently is found to be baseless or mistaken. Goodwin12 has spoken of the “tremendous imbalance between the liability involved in not informing the mother of risks compared to the liability of suggesting the alternative of abortion. All pregnant women, no matter what their personal convictions, are subject to the effects of this imbalance [...] The number of tests on the horizon that will allow identification of foetal abnormalities appears limitless. The ineluctable logic of some legal precedents affects every pregnant woman and her child. No matter what the personal convictions of the mother, she must receive her care in a system in which every possible problem of maternal or foetal well-being is a test of whether the pregnancy will be allowed to continue. And in that balance, the developing human has little or no value. There is no counterweight to ‘wrongful birth’. There is no ‘wrongful abortion’. Although few women may actually abort because of this bias, many will learn the lesson that a new human being is accepted conditionally, one test at a time”.
4. The relationship between prenatal age or size and ethical status
To many people, PNGD presents itself as an optimal solution to many problems, because it merges two ideals highly esteemed to the secularistic mind: the qualitative maximum of scientific sophistication with the quantitative minimum of ethical responsibility. That is, there is a pretension that moral obligations to the human embryo are proportional to its size and age.
Certainly, it can be conceded that PNGD, and especially PIGD, is scientifically highly sophisticated: there is a lot of technical dexterity and cunning in them. But the feigning that the lesser the size and age of the living human being, the lesser the moral claims it can demand from us and, consequently, the lesser the suffering its elimination can induce on us, does not resist a critical analysis.
It is said that, generally, the younger or smaller the embryo or foetus to be eliminated, the lighter or easier is the decision to abort them; that the relationship between the woman and her conceptus is made more remote by the use of in vitro fertilisation and is of a different degree (and possibly of a different kind) than the prenatal relationship between a woman, or should one say mother, and her foetus32. And also, that the attitude of doctors towards third trimester abortion is agonisingly difficult and represents a heavy emotional burden22. But such affirmations are psychological or sociological, not ethical. Psychologically they are weakened by the substantial objection that they are merely sensistic, in the sense that they deny deliberately the temporal dimension of life, with its beginnings and its development. Sociologically, they are biased. Stuben, for example, has offered an insightful criticism of the structure and validity of such opinion surveys and of the idiosincratic way in which the questions are presented. The surveys and their results are highly questionable from a methodological point of view44.
Practically all attempts to make the ethical status of the unborn dependent from age and size fail due to their strong contamination with subjectivism or whimsical thinking. So happens with Steinbock’s theory of the interest view42 and with Strong’s proposal of conferring moral status to the embryo on consequentialist arguments43. Although Steinbock maintains that the interest view does not regard biological differences between fertilised ova and nonsentient foetuses as being directly relevant to moral status, because neither embryos nor nonsentient foetuses have interests or a welfare of their own, concedes at last that “even nonsentient foetuses are visually and developmentally much closer to the kind of entities that have a claim to our moral attentions -namely, late-gestation foetuses and babies. They evoke a protective response that is not likely to be invoked by blastocysts. As I argued, there are good psychological reasons against adopting policies that might weaken these sorts of responses”. (Italics not in the original). Strong’s consequentialistic view is based on the overall degree of similarity that an individual has to the paradigm of human persons. The criteria of similarity he chooses (potential to self-consciousness, sentience, having been born and physical appearance) are valid because “psychologically speaking, we are more likely mentally to associate paradigmatic persons with individuals who look like the paradigm than we are to associate them with individuals who do not look like the paradigm”. The narcissistic flavour of this way of thinking is patent.
With those precedents, it is easy to understand that PIGD has got the favour of those who profess that the moral status of the human embryo is age-size dependent. PIGD is cunningly offered as genetic testing separated from pregnancy and, therefore, from the prospect of abortion. Some opinion polls among women show that they would better accommodate to PIGD than to later PNGD, because peace of mind would be easier to reach with PIGD25, or because parents are more unwilling to abort an affected foetus than to discard an preimplantation embryo33. In the context of medically controlled reproduction, PNGD and PIGD are almost systematically a prelude to the elimination of defective embryos and foetuses. As noted above, many medical geneticists offer PIGD or PNGD on the condition that any positive result must be followed by the elimination of the abnormal offspring: of in vitro abortion (as R. Edwards choose to name the discarding of embryos in vitro) or of second trimester eugenic abortion.
The alleged connection of age and size with moral accountability appears also as the foundation of the massive different legal qualification of first trimester abortion in comparison to third trimester abortion, or of the medical justification of the earlier diagnosis reached through chorion villus sampling or earlier amniocentesis than with late amniocentesis.
In consequence, PIGD followed by ‘pre-embryo selection’ is much more bearable than other approaches to PNGD (chorion villus sampling or amniocentesis) followed by termination of midtrimester pregnancies; midtrimester pregnancy termination is emotionally less traumatic than near birth abortion; but, in extremis, neonatal euthanasia must be accepted, as happens in the Netherlands, as a last ditch attempt to free the parents, and the newborn alike, from a life of suffering. This ethics by the weight mentality is also present in the contragestative fallacy formulated by Baulieu: contragestation presents itself as the best psychological alternative to birth control, because it allows the destruction of the embryo in such an early developmental stage the woman does not realise it and experiences no regret2.
But PIGD is not the last adjudicator. Its net usefulness is not evident at present. It cannot guarantee by itself the absolute correctness of embryo-foetal development and, therefore, cannot be an accurate substitute for PNGD. As Mieth has argued, as long as PIGD continues to require testing after embryo transfer by an additional PNGD test in order to confirm its results, at the present stage of technology, there is no ground, besides technological virtuosity, to utilise PIGD26. Another interesting issue forwarded by Mieth is that, the extracorporeal site of in vitro embryos enhances the power of the technicians over that of the parents. In any case, since genetically abnormal embryos are under the control of reproduction technicians, and, as it is the custom, are the technicians who decide if the transfer to the uterus is to be done or not, then the couples do not retain any power in the decision making process about the in vitro embryos.
Although the ethical size-age fallacy is a feature of the culture of death and one of its justifications of abortion, it is also a consequence of hard empiricism and its reduction of the early embryo to a mere speck of cells, or even to a molecular aggregate, or to the sum of its genes. Holbrook has attributed such a reductionistic attitude to the confounding influence of scientism, and particularly to the blindness of mechanicists for the fundamental questions17.
5. Two special problems: cloning and blastomere biopsy
a. Cloning as the forbidden ideal of genetic control on offspring
Cloning has been one of the main topics of discussion in Bioethics during the last twelve months. In connection with it, I would like to offer for discussion a pointless question: if human cloning could represent the ideal of PNGD. The question could be set aside for all practical purposes. Fortunately, cloning, as a human reproduction procedure, has been unanimously condemned, a rare event in the pluralistic society of today. That notwithstanding, some of its would-to-be ethical implications related to PNGD merit some consideration.
A connection can be traced between human cloning and PGND, since both concur on the search for genetic control of human offspring. Even more, human cloning could be considered as the greatest sophistication of PNGD: all the genetic characteristics of the cloned should be known already. The genetic constitution of the cloned should not be something mysterious or unexpected for the clonant, because it is his or her own genome what is copied with absolute precision in the cloned, which becomes his or her genetic same. In cloning, nothing genetic is left to chance: cloning would eliminate any worries which PNGD could reveal, because anything genetic would be already predetermined. With cloning no place would be left to uncertainty. Cloning would make PNGD superfluous.
Human cloning would be also the maximisation of the idea of the child as a product, the offspring as the result of deliberate design and handiwork, whose traits, complexion or sex, should not be left to the vagaries of fortune. Human cloning would also be the diametrical opposite of the child as a gift, which must be accepted unconditionally because it is a creature of God and, as John Paul II affirms in Evangelium vitae 31, the object of His gentle and intense love19. In cloning, no place is reserved to God.
Although forbidden by all, the mere physical possibility of cloning humans is a incitement more to the widespread mentality of the child as a product. It conveys the idea of unlimited choice in the reproductive context. With time, when a couple resolve to procreate, the partners will be able to decide not only the when and the how, but also the who with the help of the increasing use of better PNGD or PIGD.
The ethical stance of human cloning as genetic auto-perpetuation and auto-determinism has been very precisely depicted by Kass. “With cloning, [...] the total genetic blueprint of the cloned individual is selected and determined by the human artisans [...] In cloning, such overbearing parents take at the start a decisive step which contradicts the entire meaning of the open and forward-looking nature of parent-child relations. [...] Cloning is inherently despotic, for it seeks to make one’s children (or someone else’s children) after one’s own image (or an image of one’s choosing) and their future according to one’s will. In some cases, the despotism may be mild and benevolent. In other cases, it will be mischievous and downright tyrannical. But despotism —the control of another through one’s will— it inevitably will be”20. In its narcissistic and boring selfishness, such an attitude contrasts, ethically and biologically, with the open and confident disposition of accepting every child as he or she is, of saying a joyful yes to the emergence of new life in its novelty, [...] not only to having a child but also, tacitly, to having whatever child this child turns out to be.
b. Blastomere biopsy or embryo splitting? The totipotency question
It has been argued that the removal of totipotential blastomeres for PIGD, even when the donor embryo emerges at last as a newborn, implies the destruction of human individuals. Reichlin, in his study on the legislative implications of PIGD arrives at the conclusion that, given the totipotency of early embryos’ cells, PIGD by blastomere biopsy amounts actually to the creation of a human being with the purpose of submitting it to tests requiring its destruction, with the aim of benefiting another human being (which curiously is its identical twin). The removed blastomere, if adequately cultured in vitro and reimplanted in the uterus, would have, according to general opinion, the same chances of developing into a child as the embryo from which it is has been separated35. The same conclusion has been reached to by Bompiani, who presumes that the extraction of a totipotential cell for preimplantation analysis involves the sacrifice of a potential embryo which, in the majority of cases, would have a normal genetic constitution4.
This issue cannot be left without comment, because, besides the decisive ethical question of splitting and subsequent destruction of embryos, it poses some other important problems, such as, for example, how to stratify the moral and legal differences of (pre-fertilisation) biopsy of the first polar body, early embryo blastomere biopsy, and biopsy of trophectoderm of early blastocysts; how the ethical rules on respect for the subjects of human experimentation and research are applicable to preimplantation diagnosis, since its procedures are still in an experimental stage; or, finally, which is the biological and ethical meaning of totipotency.
In principle, and if the required general conditions for the moral acceptability of PIGD (respect for human life in its origin and for the dignity of procreation), such as they are established in the Congregation for the Doctrine of the Faith’s Instruction Donum vitae, are accomplished, then it appears to be a significant difference of moral stringency between first polar body and trophectoderm biopsy, on one side, and blastomere biopsy, on the other. Polar body biopsy and the biopsy of trophectoderm imply, if correctly performed, a minor risk to the survival of the embryo because they do not affect directly totipotential cells and evade the ethically decisive issue of cloning by blastomere separation. But they are not free of some inconveniences: both of them are, as diagnostic procedures, less efficient than blastomere biopsy, and trophectoderm biopsy has the added drawback of forcing to a late transfer of blastocysts to the uterus with the well known and untoward consequence of a very low pregnancy rate3.
Blastomere biopsy poses then the relevant question: a removed blastomere, in virtue of its totipotency, is really an embryo? And, if yes, how can it be justified the creation of human beings to be used as a means for the protection of another?
These are very difficult questions, because to answer them would need a lot of biological information, we don’t have at present, on the phenomenon of totipotency: we do not know exactly, and probably never will know, because of insurmountable ethical objections, which are the stages of the human embryo and the developmental circumstances in which single blastomeres, or aggregate groups of them, retain the capacity of producing normal embryos, foetuses and children. Much experimental and clinical work would be necessary to clarify such question, but never a research protocol with such a purpose could be approved. The questionable findings of Hall and Stillman on embryo splitting did not contribute significantly to elucidate this problem21.
I will offer some preliminary insights for an ethical revision of the notion of totipotency. Totipotency has been used as a tactical and strong argument on the political debate around embryo experimentation6. It helped to consolidate the notion of pre-embryo, as a phase of embryonic development in which individuality, and even identity, have not been still acquired, because one pre-embryo can became two or more. It appears that, for the followers of the pre-embryo indeterminacy theory, totipotency is a biological propriety at the service of delayed individuality of the human embryo. In its radical approach to the debate on when human life begins, delayed-individuality theory appears to claim that one pre-embryo does not exist by itself, is not a self, but a number of potential pre-embryos equal to the number of blastomeres the pre-embryo is actually composed by. That appears to mean that, while to the whole embryo is negated the privilege of being an individual, to each blastomere is attributed the potentiality of becoming an independent and complete one, a potentiality which is stronger than the potentiality the whole embryo is endowed with. In such a view, what is conceded to the parts is negated to the whole. And that despite the observed fact that the whole embryo accomplishes its full and singular development with utmost regularity, while the identical twinning is highly infrequent.
In my view, the property of totipotency, in the biological context, has very little to do with the multiplicity of twinning. On the contrary, it has much to do with the preservation of unity. Classical embryologists interpreted totipotency as a mechanism to compensate for the loss or destruction of early blastomeres, thereby the embryo can be spared death, reduced viability, or malformation. And modern human embryologists take advantage of totipotency, replacing in the uterus embryos with more than half unviable blastomeres in the confidence that one or two intact blastomeres are sufficient to assure normal implantation and development.
I think that the restoration of the concept of totipotency to its original and genuine biological meaning is an urgent need, because it can contribute to liberate the debate on the status of the embryo of many spurious political connotations.
Genetic control through the combination of PNGD with eugenic abortion presents itself to wide circles of society as a beneficent and compassionate solution for the pains of the family, the problems of medicine, and the costs to society, induced by genetic anomalies. This mild outward appearance is a guise: PNGD-driven selective eugenics is rather a wolf in sheep’s clothing.
Its wizardry is despotic for the family. It contributes appealingly, but deceitfully, to change the relationship between parents and children, because it destroys one of the main sources of human compassion: concern of family members for their extremely weak relatives. The family is no more a shelter, where each one is received as he or she is, where one is loved unconditionally, but an exclusive club with high demands for membership.
In the measure that genetic selection eliminates the victims of genetic disease, medicine loses the presence of sufferers, one of the main stimuli to research. Following present day eugenic bias, most research efforts in the area of human genetics are concentrated more on the wider application of secondary prevention. The consequence is the development of more and more technology for PNGD and PIGD. Diagnostic prowess is far ahead of therapy and rehabilitation. The gap will be growing in the immediate future, with diagnostic fierceness on one side and therapeutic inertia on the other: the disappearance of patients suffering from genetic disease will induce a stagnation of research. Genetic handicap, if things do not change, will be a therapeutic orphan more.
A society that allows the elimination of the genetically underprivileged, or encourages a general feeling of low-esteem towards those who survive to PNGD, is a society that does not respect human rights and creates deliberately an oppressed minority group.
Social leaders, doctors and parents ought to acknowledge that, as Kass reminds us keenly, in accepting our finitude and opening ourselves to the vagaries of genetic disease, we are tacitly confessing our creatural nature and the limits of our control. Fortunately, many people still profess a deep and unconditional respect for the life and dignity of all human beings, included the genetically diseased unborn, and bear witness of the fulfilled lives they are able to live if they receive practical support.
PNGD and PIGD show how astray doctors and parents can go when they cast God into oblivion. Then, they become blind to the beauty and strength of the very special relationship between God and the unborn, that impressive existential and bidirectional dialogue, joyfully celebrated in the verses 13-16 of Psalm 139. We must pray God that He grant us and our fellow men and women that contemplative outlook the Pope speaks of in Evangelium vitae 83. “This outlook does not give in to discouragement when confronted by those who are sick, suffering, outcast or at death’s door. Instead, in all these situations it feels challenged to find meaning, and precisely in these circumstances it is open to perceiving in the face of every person a call to encounter, dialogue and solidarity”.
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