THE BYSTANDER APPEARED shocked. Open-mouthed, she was standing there shaking her head. "Not one", she said, "not one but two. Don't you know that kind of thing is preventable now?"
The objects of her disgust were the two children of Sarah D., a woman I met in the United States. Sarah's children were both born with an extra chromosome 21, giving them the typical appearance of Down's syndrome. Sarah was aware that Down's syndrome can be prevented – or rather, that the condition can be diagnosed in a foetus long before birth, allowing for what is rather gruesomely termed a "therapeutic abortion".
After the birth of Sarah's first affected child, she was put in touch with a genetic counselling service. Prenatal testing conducted early in her second pregnancy revealed that the genetic problem had recurred. Despite the problems encountered by Sarah's first child, she felt that she could not terminate the second pregnancy, and by the time I met her she was the exhausted mother of two loving children.
NEW GENETIC TECHNOLOGIES, originally developed to diagnose and and prevent severe genetic disease, are changing the way that we think about human reproduction. The process of making babies seems less subject to chance or fate and increasingly dependent on the extent and quality of medical care received before birth. As Sarah's story suggests, common genetic diseases are coming to be seen not so much a result of bad luck, but of carelessness or negligence.
Perhaps it shouldn't be so surprising that society views reproduction differently in these days of genetic medicine. It seems logical to extend the modern obsession with perfect bodies to perfect eggs, sperm, embryos and foetuses. Body conscious adults expend vast quantities of time and energy to modify themselves, maximizing the variables they can. So why not start with the best possible complement of genes in the first place? Of course, it is a long way from a severe genetic disease like say, Lesch-Nyhan syndrome (a metabolic disorder that results in self-mutilation, excruciating suffering and early death) to say, fiddling with growth hormone genes to potentially make larger, stronger adults. There is a huge distance between these extremes, but at both ends we are using genetic technologies to decide what types of humans come into existence.
The process of making perfect babies begins with preventing the birth of imperfect ones, which is what prenatal diagnosis allows us to do. Imagine a continuum, a line that starts with the most horrific, disabling genetic disease and ends with the perfect body, the human most able to maximize their physical and psychological potential. Somewhere along that line, genetic intervention changes from a legitimate medical pursuit – the diagnosis, prevention or treatment of disease – to a brave new world of unnatural manipulation and enhancement. Somewhere along that line we switch from the jargon of high technology medicine to the speculation of science fiction. The temptation here is to perceive that currently used technologies exist safely in the sphere of disease and medicine, subject to the checks and balances of existing regulatory bodies. As for the stuff of science fiction – that can be addressed if the technology ever comes to fruition, if we ever find ourselves living in the kind of post-genetic future portrayed in Huxley's Brave New World, or in films like Gattaca, or the "don't know what we've got till its gone" world portrayed by Francis Fukuyama in Our Posthuman Future.
The split is deceptive, and terms like "genetic engineering" only serve to widen it. It's hard to equate mad scientists with everyday medical care in the prenatal clinic. The futuristic connotations of science fiction talk make policy considerations seem premature and rather far-fetched. But the ethical and policy issues that arise from prenatal medicine are fundamentally the same, however crude or sophisticated the technologies are, and the time has come to address them. Essentially we must answer these basic questions: What kind of babies should be born? When is a genetic variation a disease? What kind of regulations, if any, should we place on reproduction?
THE THEMES ARE ROTEAN, but let us dissect out two issues from the debate, one abstract and one practical. It is hard to quantify changes in social tone, subtle changes in public attitudes and the effects of changed human behaviour, but for this debate it seems important to question how prenatal diagnosis might be changing the way we view genetic disease in general. A more precise, and more urgent concern, is how a regulatory regime might work, or whether one is necessary at all.
The technology currently available for prenatal diagnosis starts with the cheap and readily available ultrasound imaging, which can diagnose a variety of foetal abnormalities. Ultrasound images can provide genetic information without actually examining DNA – the sex of the foetus being the most obvious example. The use of ultrasound for prenatal diagnosis of foetal sex in parts of India and China has resulted in much higher rates of abortion of female foetuses, causing demographic shifts in gender balance (up to 135 males for every 100 females in parts of China, for example).[i] While explicitly discouraged by bodies like the World Health Organisation and the Australasian Society for Human Genetics, abortion based on foetal sex is certainly possible in Australia, and will be for as long as parents are offered information about gender on routine prenatal ultrasound studies.
More sophisticated prenatal diagnosis relies on obtaining genetic material from the foetus or placenta. In the near future, it may be possible to obtain this tissue from a blood sample taken from the mother. But for now, the most common method of obtaining DNA is to insert a needle into the placenta or amniotic fluid – known as chorionic villus sampling (CVS) and amniocentesis, respectively – and extract tissue directly. Both procedures carry a small risk of miscarriage, and are only offered to parents at higher than usual risk of genetic disease. The most common indication for this type of testing in Australia is maternal age over 35 years, and testing is specifically for Down's syndrome. Average maternal age is still rising in Australia, with ten per cent of first-time mothers now being 35 or older.[ii] As genetic tests proliferate for a variety of conditions, it seems tempting to test a foetal DNA sample – obtained at the risk of miscarriage – for as many genetic problems as possible. Currently, such tests could include those for cystic fibrosis, some hereditary cancers, fragile X syndrome, a host of metabolic disorders and many more. In the future, genetic markers for less severe conditions, such as a predisposition to obesity, diabetes, or Alzheimer's disease are likely to be commercially available.
Women who access IVF technology have a further option in prenatal testing, known as preimplantation genetic diagnosis (PGD), which is presently available in Australia. DNA can be safely isolated from an embryo before it is implanted in the womb. At this level of technology, one can actively choose between a range of embryos depending on genetic test results and implant the most favourable one or two. Unwanted embryos can be destroyed or donated for research purposes, and therapeutic abortion is not necessary. Worldwide, close to one thousand babies have so far been born following PGD, although the procedure is expensive and often unsuccessful. Like CVS and amniocentesis, the temptation is to run as many genetic tests as are available once the foetal DNA is obtained, and this temptation may be stronger for those couples who have had difficulty conceiving naturally. In the United States, PGD is offered through the private health sector and multiple genetic tests are offered for each embryo, including foetal sex selection, which is termed "family balancing"
WHEN PRENATAL DIAGNOSIS was introduced, the goals of programmes to diagnose conditions like Down's syndrome were overtly eugenic. That is, the technology was designed not just to diagnose, but to reduce the actual incidence of certain genetic conditions. Implied in the mother's agreement to be tested was that a therapeutic abortion should follow a positive result. Prenatal diagnosis programmes were described as the ultimate in preventive medicine, and were often justified on economic grounds. Changes in societal attitudes towards disability and the ebb of paternalism in medicine have seen changes to this philosophy. The expressed aims of prenatal diagnosis programmes these days are couched more in the terms of individual reproductive autonomy; genetic counselling offered around testing is "non-directive", it provides information without the expectation of action.
Eugenics is not a word you hear much around prenatal medicine clinics. Indeed, the pre-eminence of individual reproductive autonomy in the field of prenatal medicine is largely a reaction to the horrors of state-sponsored eugenics programmes. The twentieth century saw the enforced sterilisation of citizens deemed unsuitable to be parents in various parts of the world, notably the United States in the twenties, in Scandinavia into the seventies and in China until the present.[iii] But it was the Nazi practice of eugenics by extermination which tainted the term irreparably, and eugenics has had connotations of coercion, overt discrimination and a reliance on shoddy science ever since.
With all this historical baggage, the term eugenics has become something of an emotional club that is often swung around in debates about state interference in reproduction. We all make eugenic decisions, however. That is, we are in the everyday business of deciding what type of people our offspring will be. Our choice of partner, a decision to smoke during pregnancy, or attending a doctor to obtain prenatal diagnosis – all are eugenic decisions of a kind. Only now there is solid science at the heart of this personalised eugenics. With prenatal diagnosis, we really can discriminate between what types of people our offspring will be. And we can see already that eugenics practised individually can have broad effects on society without – indeed, in spite of – the involvement of the state, as the south Asian experience with ultrasound screening for gender demonstrates.
SO WE HAVE arrived at a juncture where we seem a safe distance from the state-sponsored eugenic programmes of old. The question is how far we let reproductive autonomy go, what damage it might cause and how we might apply regulations to it. If we follow the American model, we would have a market where prospective parents could test embryos or foetuses for virtually any testable genetic condition, including sex. Advocates for full-blown genetic consumerism of this kind, such as prominent bioethicist Julian Savulescu, argue that reproductive autonomy must have ultimate primacy in a liberal society. Any limitations to reproductive behaviour, he argues, must be justified by clear evidence of harm incurred by that behaviour.[iv] Thus, presumably, Australian parents should be able to use prenatal diagnosis for sex selection, but Indian or Chinese parents should not, as they might reinforce sexually discriminatory attitudes by selecting for males.
There seems to be no doubt that a market for broad, consumer-driven prenatal diagnosis exists. If parents are willing to spend virtually anything to give their children the best start in life, then why wouldn't this extend to the period before birth? This is not to suggest that such consumers would readily undergo therapeutic abortion, perhaps repeatedly, to produce a near-perfect child. I see the demand for advanced prenatal diagnosis applying more to the field of PGD than CVS or amniocentesis. PGD offers parents considerably more control over reproduction than contraception and elective caesarean section already do. Embryos can be chosen for various qualities and stored for planned implantation. Indeed, some parents have already used such technology to choose offspring that may act as tissue donors for existing children who are unwell.
But it may not be consumer demand alone that results in a much larger scale of prenatal testing. The doctrine of wrongful birth, now established in Australian tort law, allows parents to sue doctors or testing laboratories to recover the costs of raising children that would have been aborted, but for the failure of health providers to offer accurate diagnosis of a genetic condition. Thus, for legal purposes Down's syndrome falls clearly into the category of a preventable illness (as our charming bystander pointed out), and doctors are obliged to offer testing to women at higher than usual risk. It seems inevitable that the list of such conditions judged to be preventable will grow apace with the diagnostic technology, and it may be that the practice of defensive medicine will drive much of the demand for new diagnostic products. And just as doctors perceive a legal obligation to offer a large range of tests, some parents may feel they have a moral obligation to provide their child with the best possible genes.
Whatever drives it, what harm might genetic consumerism cause? Maybe it will slot into that rather uneasy category of biomedical personal improvement that includes cosmetic surgery, or drug use by athletes. Would the use of prenatal diagnosis be vastly different from the behaviour of overzealous parents who push their child into advanced early schooling, or infant music lessons, or professional tennis? This is very expensive technology, and tests for all but the most serious genetic conditions may only be available through the private sector. The public health system will be neither willing nor able to pay for large-scale, scattergun prenatal diagnosis. Advanced prenatal diagnosis, like private schooling and trust funds, might conceivably become one of those things that wealthy parents do to help their kids get ahead.
The economic realities of prenatal testing have prompted some critics to warn of the emergence of a genetic underclass, with differential access to services shifting the burden of genetic disease to the poor. Symbolically, there is a delicious historical irony that makes this warning tantalising in a way: socially superior eugenicists early last century would exhort the socially successful to breed more and the lower classes to breed less (interestingly, this idea persists as a "soft eugenics" programme in Singapore, where financial incentives encourage university-educated women to have more children). Prenatal diagnosis might now allow the socially successful to breed better and smarter, while the population without access to such technology withers under an increasing onslaught of genetic disease. Practically, this concern is fanciful and unlikely to materialise, as life-threatening genetic disease testing is likely to be available to all. And most pregnancies, at least in the foreseeable future, will not rely on any prenatal diagnosis other than ultrasound.
A more realistic concern about genetic consumerism is raised by advocates for the rights of the disabled. They talk of a subtle, attitudinal change to those already born with disability that is typified by the bystander in the opening anecdote. It's pretty hard, their argument goes, to have any self-esteem when people are doing their best to identify and abort a baby that's going to be like you. The recent appearance of tort claims based on wrongful life – as opposed to wrongful birth – reinforces such concerns. Some American courts have recognised plaintiffs claiming damages for the fact that they were born with a diagnosable disability. The basis for such claims is that they were negligently denied a right not to be born; the compensation is for suffering a life that could have been prevented.
So, vigorous prenatal diagnosis programmes may have the unintended effect of reducing tolerance for diversity. There may be less political will, for example, to allocate the funding necessary to educate and provide special care for the disabled. As is the case for smoking-related disease, the economic rationalist would advocate that such funds should go to prevention. Health insurers may be less willing to pay for such care, once an accident of birth, now a preventable disease – or "elective disability", in the terminology of US health insurers. The tone of our social attitude towards the disabled is shifting in favour of changing the genetic makeup of society, rather than changing society to accommodate the disabled.
This concern, which is the kernel of the disability rights argument, can be traced back to the beginnings of prenatal diagnosis, when excitement over the new technology led proponents to claim that defective genes could be expunged from the population for ever. The perception has been, then and now, that genetic medicine has the power to triumph over chance, over bad luck in reproduction. The idea that some genetic conditions are preventable, that they are unnecessary, has the corollary that people born with a genetic condition now form part of a group in society that is preventable, no longer necessary. This repugnant idea has been advocated by various influential commentators, most famously by American chemist Linus Pauling, who suggested that all carriers of the genetic disease sickle-cell anaemia be tattooed accordingly, on their foreheads. As recently as 1989 Daniel Koshland, the editor of Science magazine, suggested that common genetic diseases were at the root of many societal problems, the cost of which "cries out for an early solution that involves prevention, not caretaking."[v] This is hardly a stance likely to promote tolerance and understanding of disability. Prevention, in this sense, is not prevention of some disease that one might acquire during life – lung cancer from smoking, for example. Prevention here is shorthand for the prevention of certain types of person, not of a disease or syndrome. The difference is important, and one that the public health rationale behind prenatal testing never made clearly enough.
BUT DOES ANY of this discussion necessarily lead to a demand for regulation? If we allow free reign to reproductive autonomy, do we accept that a couple who are congenitally deaf should have the right to choose an embryo or foetus that is also deaf? For parents who are both deaf, or achondroplastic, then having a deaf or short child may be more desirable than having a "normal" baby. Such scenarios profoundly challenge the standard medical paradigm of disability, and give new meanings to ideas of positive discrimination. If we allow such far-reaching autonomy, we seem to open the door for all kinds of designer babies. Or, alternately, do we restrict the range of prenatal diagnosis out of fear that an advanced programme may threaten tolerance for the disabled, or out of a repulsion for the ethic of genetic consumerism, or because not everybody will have access to the technology? Would it be practically feasible to regulate prenatal diagnosis at all?
Prenatal diagnostic technology, unlike information technology, is amenable to regulation, providing a number of early difficulties can be resolved. One of the major hurdles revolves around abortion. It seems inconsistent that legislation might deny abortion to a parent who is ostensibly trying to have the healthiest possible baby, yet freely allow abortion to another parent who simply feels it isn't the right time to have a baby. From the disability rights concern, it seems that the relevant difference in this case is that the first parent is making a genetic judgement about what kind of child they are going to have. In any case, regulations would best be applied at point of testing rather than at access to abortion, lest we end up with a system something along the lines of "you can have an abortion if you can prove that you haven't conducted these certain tests." It would be far easier to simply not licence certain genetic tests for prenatal use, rather than trying to legislate around access to abortion.
THIS LEADS TO another set of hurdles. because prenatal diagnosis can be applied to both natural and assisted conception, it falls between two existing regulatory systems. Take the example of the regulation of PGD in the United States, which currently falls into a policy vacuum at the edges of regulations regarding assisted fertility on the one hand, and human genetics on the other. While there are general policies from a variety of bodies, and rather tepid attempts at industry self-regulation, American PGD providers are essentially free to offer whatever genetic testing they feel is appropriate. Individual corporations apply entry criteria to their services depending on their own ethical judgements. The Genetics and IVF Institute, for example, allows customers to purchase PGD for foetal sex selection provided that they are married, already have children, and wish to select for the sex least represented in the family.[vi] Pity the unmarried or gay couple who want to have a second daughter, for whatever reason.
In the UK, genetic testing via PGD is tightly regulated through a specialised agency, the Human Fertilisation and Embryology Authority (HFEA). Patients can buy tests outside the NHS, but the HFEA licences testing by all providers, public and private. This seems to be a better system of regulation than the American model, and some Australian states have dedicated bodies similar to the HFEA (notably Victoria, with its Infertility Treatment Authority). This regulation only concerns PGD, and there is the familiar problem of federal versus state regulation. Despite these difficulties, the practical problems of regulation can surely be overcome. The philosophical problem remains – what tests should be allowed from the increasing variety that is available, right across the continuum of genetic variation.
Where we would draw that line is something that the community must decide. And how will the community decide? What we face seems to be a classic dilemma of public policy, and one that requires extensive debate and ultimately, a political solution. Overseas, there appears to be evidence – if opinion polling can be believed – of both a market for genetic consumerism, and a desire to restrict the practice. When asked specifically about conditions such as short stature, obesity, missing fingers or homosexuality a surprisingly high number of respondents in various surveys have been in favour of prenatal diagnosis and prevention.[vii] Yet the more general question asked in a recent UK survey "Should parents be able to choose the physical and mental characteristics of their children?" resulted in only 13 per cent of respondents in favour. Interestingly, in the same survey nearly 80 per cent of respondents felt that they had not had access to enough information about the regulation of biotechnology in the UK, a country with arguably the most comprehensive system of regulation and the best public consultation.[viii] This highlights the other major hurdle to regulating this area – the information the public are expected to absorb is vast, technical and difficult to convey in anything approaching a sound bite.
The debate has been neither broad nor particularly public in Australia to date, but some clues as to how it may pan out can be garnered from the passage of stem-cell and embryo research legislation in 2002. The haste with which nearly all parliamentarians were eager to split the original bill and ban both therapeutic and reproductive cloning reflects a considerable squeamishness about genetic technology. But what is more telling about that legislation, our most significant attempt to regulate human biotechnology to date, is that it was passed by a conscience vote.
At the time, the major parties were widely praised for the high standard of parliamentary debate that ensued, and various commentators called for conscience votes on more issues. In fact, the debate was protracted, redolent with personal indulgences and often simply not relevant to the issue at hand. By far the best information was extracted by the Senate committee on the matter. Justifying the conscience vote on the matter, Liberal member Tony Abbott said that it was appropriate to grant such votes on issues of "morals and ethics", as if there were no major ethical issues at stake in going to war, or child protection, or in practically any other area of government policy. The reality is that biotechnology issues like embryo research are deemed too fractious to ensure that members toe the party line. There has been a strong flavour of exceptionalist thinking in the history of conscience voting in our parliament. Issues like the death penalty and abortion have set a precedent that debate on prenatal diagnosis is likely to follow, especially given that abortion is such a strong feature of prenatal medicine.
Political parties have to do some of the early hard work here. "Life and death" issues like abortion and biotechnology should not be considered exceptional amongst policy decisions; the fact that members feel strongly about human biotechnology should simply emphasise how important those issues are to the general public. Conscience voting is hardly representative in that it explicitly appeals to the very personal opinions of individual members, opinions that are not likely to be swayed by community representations. To foster a public debate, party machines must initiate robust internal debate that results in clear policy. If this is going to be a century marked by advances in biotechnology, voters should have considerable say in how fast that advance proceeds, and in which direction.
Regulating prenatal medicine is not, after all, an "all or nothing" policy decision like the death penalty. All reasonable people would agree that as a society we should do our best to prevent the suffering from horrific diseases like Lesch-Nyhan syndrome. How far we go past that point is a question for informed discussion, not the kind of polarisation that has been the norm in biotechnology debates so far. Of course, in the end, we will settle on a middle ground somewhere between the laissez-faire stance of libertarians like Savulescu, and the hard line opposition of some religious groups and the more radical disability rights activists. Francis Fukuyama argues cogently that as a society we already need to move beyond this polemic and start to address what kinds of regulatory institutions we should construct. The spectacle of Fukuyama, a Reagan-era architect and champion of government deregulation, calling for new regulatory institutions should be an alarm bell to us all. If he says that there are too many commercial interests for the biotechnology industry to self-regulate, then we probably should listen.[ix]
Fukuyama's refreshing urgency is driven by a concern that expands upon the disability rights argument. Prenatal diagnosis and other biotechnology, he argues, is beginning to change the way we view human nature generally, not just genetic disability. Ultimately, he fears, such technology could narrow the diversity of human nature itself. The fabric of liberal democracies, founded on guarantees of equal rights for all groups in the community, is threatened once we start wilfully changing what type of citizens are born into those democracies. Like theoretical concerns about how prenatal medicine might reduce human genetic biodiversity, Fukuyama's thesis leaves one with an uneasy suspicion that biotechnology is changing our society in ways that are not obvious – yet.
LET'S RETURN TO Sarah and her two children with Down's Syndrome. It may seem to parents like Sarah that we are drifting back towards eugenic attitudes towards her children, after a considerable window of tolerance. It may be nothing like the days when "mongoloid" and other disabled children were smothered at birth, or consigned to institutions, but there is definitely a change in the wind. British ethicist and parliamentarian Onora O'Neill has urged that these big-picture biotechnology issues become more politicised, that people debate them and vote accordingly. I agree. The public debate in Australia will certainly have unpleasant elements, and is likely to stir up unfinished business left over from the struggle over abortion law. The prospect of deaf parents selecting for deaf children is one that seems particularly ripe for tabloid-style outrage. Perhaps such a backlash is a risk we have to take, for it's time that debate began. As we wait, the technology marches forward.
[i] Plafker, Ted, "Sex Selection in China Sees 117 Boys Born for Every 100 Girls", 324 British Medical Journal 1233, 1233 (2002).
[ii] Farouque, Farah, "To Have a Family or Not? Time to Get Personal", The Age, May 31, 2003.
[iii] See Kevles, D.J., In the Name of Eugenics: Genetics and the Uses of Human Heredity, Penguin, UK, 1985, for a comprehensive history, and Dikotter, F. Medical Knowledge, Birth Defects and Eugenics in China, Hurst & Co, UK, 1998, for a discussion of eugenic practices in China.
[iv] Boyle, R.J. and Savulescu, J., "Prenatal Diagnosis for 'Minor' Genetic Abnormalities is Ethical", The American Journal of Bioethics 3 (1) InFocus (2003); Savulescu, J., "Sex Selection – the case for", The Medical Journal of Australia 171: 373-375 (1999).
[v] Koshland, D., "Sequences and Consequences of the Human Genome", Science 246: 189 (1989).
[vii] See Michie, S. et al, "A Comparison of Public and Professionals' Attitudes towards Genetic Developments", Public Understanding of Science 4:243-253 (1995); Milner, K.K. et al, "Attitudes of Young Adults to Prenatal Screening and Genetic Correction for Human Attributes and Psychiatric Conditions", American Journal of Medical Genetics 76:111-119 (1998); Hietala et al, "Attitudes toward Genetic Testing among the General Population and Relatives of Patients with a Severe Genetic Disease: A Survey from Finland", American Journal of Human Genetics 56: 1493-1500 (1995).
[ix] Fukuyama, F. Our Posthuman Future: Consequences of the Biotechnology Revolution, Profile, UK, 2002.