Ethical Issues in the Human Genome Project

Mark Pearson, DuPont's Director of Molecular Biology, has claimed that the human genome project will "usher in the Golden Age of Molecular Medicine."1 But even the legendary golden age of ancient Greece had its problems, and a project of the complexity and sensitivity of the human genome initiative will inevitably be accompanied by vast moral and scientific controversy. Officials at NIH have long been sensitive to this possibility. The ELSI (ethical, legal, and social implications) project was included in the human genome initiative almost from the outset, and journalists have long found the ethics-in-medicine theme almost irresistible, as the cover of Time magazine in March 1989 demonstrated, upon the launching of the genome project.

Reflection on ethical issues in genetics may merit this attention, but it needs to be kept in perspective. Many critics of recombinant DNA research in the 1970s and '80s-and now of the human genome initiative-have offered sensational moral problems, many with the character of Brave New World nightmares. We have been told that we are on the edge of genetic engineering that would fashion the human species as a super race, that germ-line gene therapy will have disastrous effects, that we are stigmatizing the disabled through genetics research, that we will graft animal genes into humans and graft human genes into animals, that we are resurfacing discredited eugenic thinking, that we are intimidating women's reproductive decision-making, and that we may even be destroying the human species. A simple example is found in the following 1991 quotation from U.S. News & World Report:

Society's knotty decisions will become even more tangled as the massive Human Genome Project lumbers toward its goal of mapping the location of every human gene, including those that govern such traits as intelligence, coordination and grace. That knowledge will expand the potential of genetic engineering far beyond the correction of disease and push it toward the realm of social engineering.2

It is likely true that eugenic thinking will be difficult to escape in upcoming years; and it will be difficult to distinguish constructive from destructive eugenic thinking. Nonetheless, the highly speculative nightmare accounts of ethical issues in the human genome project have thus far not been very specific or precise. Moreover, even the worst case scenarios do not suggest that the effort to map and sequence the human genome is intrinsically burdened with ethical issues. The problems are not about new scientific knowledge or the procedures used to obtain it, but about the uses to which such knowledge might be put, or not. It is here that the major moral problems are found-both the more speculative and the more practical problems.

From my perspective, the most interesting class of practical issues concerns the ownership and control of genetic information, and the most interesting class of speculative or theoretical problems is about scientific reductionism and causal determinism.
Insurance Implications and Questions of Social Justice

One of the primary problems is that systematic genetic testing will facilitate the exclusion of the genetically destitute from insurance coverage, and potentially from employment. It has been recognized from the beginning of the human genome project that genetic screening (that is, sorting an asymptomatic population to locate persons at elevated risk of genetic problems) would present issues of privacy and confidentiality involving employers, insurers, bankers, credit raters, and many others. Predictive uses of genetic information are not now sufficiently developed to affect a great many underwriting decisions-and they are not yet cost effective-but the human genome initiative will increasingly create a larger volume of predictive information to be added to the genetic information already available. Once obtainable, this information will encourage insurance companies to make genetic tests cost effective. Companies can then deny coverage, increase charges, initiate exclusions, and the like.

Such information is also obtainable by persons at risk of disease, and they are more likely than others to purchase the relevant type of insurance in maximal amounts because they are more likely to experience claims in excess of premiums. This circumstance and the costs of health care generally give employers a reason to avoid hiring those who may get sick and file claims. Many companies already carry limited coverage in the case of diseases such as AIDS. At the present time, so-called group insurance is being restricted by corporate policy to ever-smaller bundles of persons, eliminating those from the larger group who potentially will be most costly.

The private health insurance industry, not surprisingly, views these strategies and adjustments as justifiable, because insurance policies are designed to limit risk as well as to protect the healthy. But there is a morally unsatisfactory feature at the heart of the current American insurance scheme: Insurers want to avoid those most in need of insurance; the more you need, the less you can obtain, or the more you pay. The situation will worsen as genetic information accumulates. Lost in this upheaval is the moral goal of blindly pooling risks for groups in the face of the unknown lotteries of life. Now we each seek to become economically advantaged by being placed in the lowest risk group. However, if we cannot be placed in this group, our economic position is dramatically worsened, which may also affect our health care expectations. If insurance pools continue to be restricted through genetic tests, as they will be under current policies, then such tests will feed rather than alleviate problems of health care coverage, with the potential to become an American tragedy.3
These developments need to be put in a broader perspective of social justice. It would be incoherent to fashion either a public or a private insurance scheme that prohibited insurers from the use of genetic risks without at the same time prohibiting similar predictors of disease that are currently in use. An obvious question to ask about our system of access to health care is whether it is ethical to even allow risks of this sort to be assessed in contracting for insurance policies, and whether health, life, and disability insurance should be distributed more in accordance the luck of the lottery of nature. In a very different health care system than the one we now experience, it would be morally unjustified-a clear act of discrimination-to exclude persons from an insurance pool merely because they were unlucky in the genetic or any other natural lottery.

This would be less of a problem if persons were responsible for their health conditions, but genetics is the paradigm case of being ill or susceptible to illness for reasons beyond one's control. Broad principles of social justice suggest not only that exclusion of the disadvantaged is unwarranted, but that there is a social obligation to correct or prevent certain genetic defects if it is possible to do so. The logic here is that a commitment to equal opportunity requires more than the removal of barriers such as discriminatory policies. It requires positive steps to remove disadvantaging conditions.

It is morally shocking that so little of the debate about health care reform has turned on these basic moral issues about fair access, while so much of it has turned on purely economic questions of cost-containment and efficiency. Everyone is aware that the large numbers of uninsured and underinsured citizens is a massive problem in the present system. The point that I have been making is that new genetic information has the potential to enlarge the number of medical uninsurables well beyond what we are now experiencing, at the same time making new technologies available only to the wealthy and those lucky enough to have squeezed through our system of screening for coverage. So-called 'fair discrimination' in access to health insurance in the end amounts to a diminished access to desperately needed health care.

Employment, Genetic Screening, and Discrimination in the Workplace
I will now shift from insurance companies to employers and to connected problems of genetic screening. This shift is not a sharp change of direction, because insurance and employment are closely linked in this setting. Insurers may insist that employees undergo testing, and employers may find it advantageous to exclude potentially costly employees and forms of costly coverage. Although relatively few employers currently use genetic testing, this situation will change as the benefits of testing shift and as the market fosters incentives. The genome project will accelerate the process, increasing the use of genetic screening and raising questions about what can be reliably inferred from genetic information.

Lingering worries about genetic discrimination led to a recent study by Paul Billings and associates of our present systems of using genetic information. He considered whether incidents involving genetic discrimination are already occurring in the workplace, thus affecting access to social services, insurance underwriting, and the delivery of health care. 4

The study was eye-opening. Respondents in the study described difficulties they had encountered in obtaining insurance coverage, finding or retaining employment, and the like. Here is a typical example involving the "asymptomatic ill," as Billings calls them-that is, those who have a disease-associated gene, but no identifiable clinical illness. A clinical geneticist treating individuals with PKU wrote:
[Name withheld] is an 8-year-old girl who was diagnosed as having PKU at 14 days of age through the newborn screening program. . . . Growth and development have been completely normal. . . . The circumstances of the discrimination that this child has experienced involve rejection for medical insurance. She was covered by the company that provided group insurance for her father's previous employer. However, when he changed jobs recently, he was told that his daughter was considered to be a high risk patient because of her diagnosis, and therefore ineligible for insurance coverage under their group plan.
This and many other cases reported in the Billings study illustrate instances of discrimination against persons who are completely asymptomatic; their only "abnormality" lies in their genotypes. Though in truth healthy, persons are treated as if disabled or chronically ill.

Problems of Reductionism, Destiny, and Determinism
I turn now to a range of more speculative problems, all of which center on questions of genetic determinism. I begin by explaining why I think such speculation might be of interest to you.

The Causal Conditions of Behavior: Reductionism and Determinism
A vision of genetics that lacks perspective can foster the belief the genes are the primary and perhaps sole causal determinant of human ills and deviant behaviors. The move in various literatures has been rapid from disorders such as Huntington's and hemophilia to schizophrenia and manic depression, and from there to learning disabilities such as dyslexia, attention-deficit disorder, and dysfunction in language development. From there speculation has spread to the possible genetic bases of shyness, inhibition, risk-avoidance, drug abuse, sexual conduct, and all "modern maladies." At this point speculation has begun to get a little out of control. Here is an example from a recent Time magazine story that places its theses in a Darwinian context:
The premise of evolutionary psychology is simple. The human mind, like any
other organ, was designed for the purpose of transmitting genes to the next generation; the feelings and thoughts it creates are best understood in these terms. Thus the feeling of hunger, no less than the stomach, is here because it helped keep our ancestors alive long enough to reproduce and rear their young. Feelings of lust, no less than the sex organs, are here because they aided reproduction directly. Any ancestors who lacked stomachs or hunger or sex organs or lust-well, they wouldn't have become ancestors, would they? Their traits would have been discarded by natural selection.

This logic goes beyond such obviously Darwinian feelings as hunger and lust. According to evolutionary psychologists, our everyday, ever shifting attitudes toward a mate or prospective mate-trust, suspicion, rhapsody, revulsion, warmth, iciness-are the handiwork of natural selection that remain with us today because in the past they led to behaviors that helped spread genes.5

This 1994 story in Time was followed by another cover story in late 1995 that pointed to genetic roots for all modern maladies such as stress, anxiety, and depression.6

Also at stake in these discussions is the idea that human destiny follows from human biology, together with the accompanying theme that what genetic medicine does is to tinker with, and that human properties are therefore the outcomes of our genetic constitution.7

This theme continues to surface in the context of several delicate, ongoing, controversies, the most visible of which have been the homosexuality controversy, with its generally constrained conclusions about biology and destiny, and the IQ controversy-with its generally unconstrained conclusions.8

Conclusions reached in these controversies are often allegedly supported by scientific data, despite significant gaps between the data and the conclusions reached.

So how much of the variation in IQ is linked to genetic factors and how much to environmental ones? The best way to get a direct estimate is to look at people who share all their genes but grow up in separate settings. Four years ago, in the best single study to date, researchers led by University of Minnesota psychologist Thomas Bouchard published data on 100 sets of middle-aged twins who had been raised apart. These twins exhibited IQ correlations of .7, suggesting that genetic factors account for fully 70 percent of the variation in IQ.9

These conclusions are also turned into a broad social agenda that demands the abolition of welfare and affirmative action programs on grounds that they are doomed to failure, that they will do more harm than good, and that many forms of social inequality are the genetically inevitable outcomes of biological differences between the bright and the dull. Opponents of these arguments fear, of course, that a social and political agenda is driving the interpretation of scientific data; it is not science, but the abuse of science. And it functions to replace the idea of the moral worth of persons with that of their biological gifts.

Somewhere in upcoming years the human genome project will encounter at least one massive problem that no one has yet anticipated. Obviously I do not know what it will be. But it will involve some kind of interaction between science, law, and ethics.