Bonnie Steinbock, "Prenatal Testing for Adult-Onset Conditions: Cui Bono?" Reproductive BioMedicine Online, vol. 15, supplement 2, December 2007, pp. 38-42. Reproduced by permission.
"From the perspective of the 'disability critique,' prenatal testing is rarely, if ever, in the interests of the future child."
In this viewpoint, Bonnie Steinbock argues that prenatal testing for potential genetic disorders cannot be justified on the grounds that it is better to prevent the birth of a child who might have such a problem, because it is virtually impossible to determine future quality of life or future medical advances. Dr. Steinbock is a professor of health policy and philosophy at the University at Albany (New York state); her other writings include Life Before Birth: The Moral and Legal Status of Embryos and Fetuses, and she is co-editor of Ethical Issues in Modern Medicine, 7th edition.
As you read, consider the following questions:
- According to Steinbock, what type of circumstance justifies prenatal testing for genetic disorders as being in the child's interest?
- In a Canadian study involving Huntington's disease screening, how many couples requested prenatal testing and then changed their minds?
- Who "argued that someone who knew that he or she was at risk for Huntington's disease had a moral obligation not to reproduce"?
One might think that the debate [over prenatal screening for genetic disorders] is between those who generally oppose abortion ... and those who do not. The abortion debate turns largely, though not entirely, on the moral status of the fetus—an issue that is not going to be addressed here. However, at least some disability advocates do not base their opposition to prenatal testing on a general opposition to abortion. [Biology and ethics professor] Adrienne Asch supports abortion (or a woman's right to choose abortion) when the woman, for whatever reason, does not want to become a mother. She opposes abortion when the woman wants to become a mother, but does not want to be a mother to a child with certain characteristics, e.g. a disabling condition. This is sometimes called the 'any/particular' distinction because it distinguishes between an abortion of any child, and an abortion only of a particular child, or particular type of child. Asch believes that the desire to abort a wanted child, when it is discovered that the child likely will have a disability, stems either from ignorance about what it would be like to raise such a child, or discriminatory attitudes toward people with disabilities, or both. From the perspective of the 'disability critique', prenatal testing is rarely, if ever, in the interests of the future child.
Preparing in Advance
There is one exception, and that is when prenatal testing is done not in order to terminate the pregnancy, but rather to learn about any special needs due to the disability. For example, if spina bifida is discovered in utero, the doctors will probably want to do a Caesarean section, since the travails of normal labour might further damage the child's spine. A woman who would not consider aborting a fetus with spina bifida might, for this reason, want prenatal testing in order to have the safest type of delivery. In addition, some conditions can be treated surgically immediately after birth or even in utero. Prenatal testing might also help the parents be better prepared to care for and raise a child with special needs.
Could this rationale for prenatal testing have implications for adult-onset conditions? Obviously, adult-onset conditions would not affect planning for the birth or medical care or education during childhood. However, it is possible that there are preventive measures that could be adopted during childhood to lessen the risk of developing an adult-onset disease. Perhaps a child at high risk for developing heart disease or diabetes as an adult might be able to reduce that risk with dietary modifications from childhood on, just as children born with phenylketonuria can avoid mental retardation with a severely limited diet. In such cases, prenatal genetic testing might have a benefit for the future child.
Genetic Predictions Are Far from Perfect
However, this justification for prenatal testing is dubious for two reasons. First, for most people and most adult-onset diseases, genetic testing is not predictive.... In diseases like heart disease and diabetes, the environment plays a large role in whether the individual develops the disease, even in the presence of genetic risk factors. For most adult-onset diseases, even if there are childhood interventions that could be taken, a prenatal genetic test will not reveal if the interventions are necessary or desirable. It should be remembered that interventions to prevent disease may themselves have adverse effects. (Sadly, this is also true for phenylketonuria [a genetic disorder where the body cannot utilize the amino acid phenylalanine], where a false positive could mean that a child was placed on a severely restrictive diet needlessly. Sometimes this has even resulted in brain damage to the developing infant brain, resulting ironically in mental retardation.)
The Most Predictive Genes
There are some adult-onset diseases where a small percentage of people inherit particular mutations that cause a strong predisposition to the disease in virtually any environment, making the tests highly (if not absolutely) predictive. For example, a very small percentage of women who get breast or ovarian cancer (about 1%) have the BRCA1 or BRCA2 gene variant. This means that they are born with a strong genetic predisposition to the disease. Women who have the BRCA1 or BRCA2 gene variant have up to an 85% risk of developing breast cancer by age 70, as compared with a 12% risk over a 90-year life span for women who do not have these mutations. Women who have the BRCA1 or BRCA2 gene variants could be identified prenatally.... The question is, what would be the point of prenatal testing for breast cancer? Certainly not to institute preventive measures in childhood. The only preventive measure is frequent screening in adulthood, or having the breasts and ovaries prophylactically removed. One need not do a prenatal test, or testing in childhood, to do this sort of prevention. The only reason for prenatal screening for breast cancer is to avoid the birth of a girl who is likely to have breast cancer at some point in her life....
Declining the Huntington's Disease Test
If a genetic test had very strong predictive value, that is, if the test could reveal with near certainty that the individual would develop the disease, that might be a reason for wanting the test prenatally. An example is Huntington's disease (HD), an autosomal dominant adult-onset disease with virtually 100% penetrance. HD is a fatal and degenerative brain disorder. Symptoms usually appear between the ages of 30 and 50; there is no cure and no treatment. It is possible to determine if a fetus carries the gene for HD by amniocentesis or chorionic villus sampling. If the prospective parents would terminate the pregnancy if the fetus were affected, they most likely would want the test. If they would not abort, there is no reason to have the test. Thus, the rationale for prenatal testing for HD depends on the willingness to abort. This has been borne out by a study in Canada, where prenatal genetic testing for HD has been available since 1986. Early survey data suggested that 32 to 65% of those couples with one partner at risk of developing HD would want prenatal testing. However, during the study, researchers found that only 14 couples (30%) initially requested prenatal testing, and of those 14, seven withdrew. (Admittedly, this is not a large sample.) 'The most frequently cited reason for declining prenatal testing was the hope that a cure would be found in time for their children.' This suggests that even where a test is strongly predictive of a dreadful disease, a significant number of people would decline the test, because they retain the hope that advances in medicine will prevent their child from getting the disease.
When Serious Problems Are Unavoidable
What if there was no hope of avoiding the disease? In such a case might abortion be viewed as being chosen (perhaps required) for the sake of the child? This idea is sometimes expressed when people say things like: 'It would be unfair to the child to be born in such a condition. If you knew your child would have condition X, how could you do that to a child?'. The condition might be a medical condition, but could also be a social condition, such as being born to an older father, who was unlikely to live to the child's adulthood, being born in extreme poverty, etc. This issue has been the subject of substantial literature. Some have taken the position that coming into existence can never be a harm to the individual, that life is always worth living, whatever the magnitude of the disabilility or the amount of suffering. This seems far too strong. It is not difficult to imagine a life so brief and so filled with unrelievable suffering and so absent of the things that make life worth living that existence itself is not a benefit but a harm. A less extreme view holds that existence is a benefit except where the individual himself or herself, or a proxy acting on his or her behalf, would prefer non-existence. However, there is an ambiguity in the phrase 'preferring non-existence'. It could mean 'preferring never to have existed' or it could mean 'preferring to die', that is, not to go on living. There are notorious difficulties about ascribing preferences to infants and young children, which led [the late political and social philosopher] Joel Feinberg to use the device of a proxy chooser who, acting on behalf of the child, is rationally required to prefer never having come into existence to existence under the terrible and unavoidable conditions of the child's life. However, [bioethicist] John Robertson appears to take the other interpretation of the wrongful life test. He acknowledges that it is possible (though doubtful in reality) for there to be a case of wrongful life. The test he uses is 'where from the perspective of the child, viewed solely in light of his interests as he is then situated, any life at all with the conditions of his birth would be so harmful to him that from his perspective he would prefer not to live'. This is known as the wrongful life standard, after legal cases in which it was alleged that an infant plaintiff was harmed by being born, and owed damages by the negligent physician responsible for the child's birth, even though the physician did nothing either to cause the harmful condition or to prevent its occurrence. The only way to have avoided the child being born in such a condition would have been to avoid the child's birth altogether.
Wrongful Life Is Extremely Rare
The wrongful life condition can explain how the child has been harmed and wronged. If the child's life is so terrible that the child himself or herself would prefer nonexistence, then the child would be better off unborn. Being brought into existence under such conditions both harms and wrongs the child. The difficulty with this standard is that it is hardly ever met. Most disabilities, even very severe ones, do not impose terrible suffering. Indeed, some of the most devastating conditions, such as anencephaly, impose no suffering, as it seems likely that the child experiences nothing, and therefore is not in pain. In addition, many people who have serious disabilities report having lives well worth living. They do not wish that they were dead or that they had never been born. It becomes, then, a real challenge to explain how children can be said ever to have been harmed or wronged by birth with a serious disability, or to explain the basis of the alleged obligation to prevent their births. It may be that, in many cases, the correct explanation for the obligation to avoid procreation stems from impersonal, rather than person-affecting, reasons....
Morally Obligated Not to Reproduce?
If it is difficult to explain the obligation not to have a child with a seriously disabling condition, the difficulty is compounded in the case of adult-onset diseases. Consider one of the worst, HD. Before the test for HD was developed, individuals could know of their risk only if either of their parents had HD. If they had inherited the gene, every child they had would have a 50% chance of inheriting the disease as well. But this could not be known until they became symptomatic, usually not until their late 40s or 50s—long after reproductive age for most people. In 1978, [humanities professor] Laura Purdy argued that someone who knew that he or she was not at risk for HD had a moral obligation not to reproduce. Had Arlo Guthrie taken her advice, he would not have had his three children. As it turned out, he had not inherited the HD gene from his father, Woody Guthrie. His gamble paid off. Today, with predictive genetic testing available, there need be no gamble. Anyone at risk can be tested for the HD gene, prior to reproducing. If the test is negative, the individual need not worry about passing on the disease. But what if the test is positive? Is it clear that there is a moral obligation not to reproduce? Arlo Guthrie allegedly felt that even if he passed on the gene, it would not be wrong of him to have children. He felt that he had had a good life, and did not wish that he had not been born. Therefore, he would not feel guilty providing his children with 40 or 50 years of disease-free life, even if they developed HD. Moreover, as mentioned above, some of those at risk for HD do not wish to avoid reproduction, because they hope that a cure will be found in the children's lifetimes. The same argument applies more strongly to breast cancer, which has less penetrance and where prophylactic measures are possible.
A Life Worth Living
What about schizophrenia? On the one hand, it is likely to occur much earlier, reducing the amount of 'good time' before the onset of disease. On the other hand, people do manage to live with schizophrenia, and many are able to control their symptoms with medication. Given that genetic tests cannot reveal how severe the disease will be, it is difficult to maintain that there is an obligation to undergo prenatal testing where there is a family history of the disease, or that reproduction must be avoided 'for the sake of the child'. Whether parents might justifiably wish to avoid having a child at high risk for schizophrenia is a separate question.
Prenatal genetic testing is usually desired on grounds of reproductive autonomy. It is the author's view that individuals who want to avoid the birth of a child with a severe disability are morally entitled to do so by having an abortion, though that claim has not been defended here. At the same time, it is much more difficult to justify prenatal testing and selective abortion as being for the sake of the child who otherwise would have been born, because in almost all cases the child, once born, will have a life worth living. This is so even in the case of severe disability at birth, and much more so in the case of adult-onset disorders.