May 1995 XVI/9
GENETIC TESTING: ETHICAL ISSUES
A wry friend of mine claims that he likes to go to the meeting of the local genetics society because it makes him very optimistic about the state of his health. He states that when he went to the meeting ten years ago, he realized that his genetic makeup enabled him to avoid about five hundred diseases. Now, with new genetic information available, he maintains that his genetic makeup has enabled him to avoid four thousand diseases, many of them fatal. Well, you get the idea. More and more information is available concerning our genetic make-up and the diseases which result from genetic malfunction. Much of this information is the result of the Human Genome Project. The Human Genome Project is also developing tools to identify the genes involved in these diseases. Molecular diagnosis has sparked a revolution in the diagnosis of genetic disorder. A molecular study can determine the presence or absence of gene mutation and thus a diagnosis can be made well in advance of the appearance of clinical symptoms.
As a result of new genetic information, tests for genetic diseases are being developed usually by for-profit pharmaceutical companies. Clearly presymptomatic testing will be a significant factor in changing the emphasis in medical care. In the past, people sought the help of physicians after the onset of illness or disease. In the future, medical efforts will be directed toward preventive medicine, toward helping people avoid or mitigate the diseases for which they have a genetic predisposition. Testing for diseases which may occur later will not only change the practice of medicine, but predictive presymptomatic testing is expected to become "a boom industry." (1) While presymptomatic testing is usually presented as just one more step in the battle against disease, there are several ethical issues which arise from its use. A few of these ethical issues arising from genetic testing have been considered frequently. For example, it is well known that release of genetic information can cause discrimination insofar as insurance and employment is concerned. In the following paragraphs, I will seek to present some ethical questions about gene testing and genetic engineering which are considered less often.
Ethical Issues
When tests become available, it is supposed that the general public will be interested in utilizing them, depending upon the primary care physician to interpret them. This is certainly the pattern in regard to tests recently developed to detect prostate cancer. But several facts make testing of the general public a questionable practice. First of all. currently there is no understanding of the false negatives and false positives that will occur. (2) Such errors are easier to avoid when testing is conducted in a meticulous research environment and restricted to people whose family history indicate that they are high risk. When testing moves beyond high risk families it becomes more complex. Even though a gene mutation often associated with cancer may be detected, insofar as the general public is concerned, the mutation may not in fact be predictive for cancer. If a person belongs to a family with history of incidence of early onset cancer, then a genetic mutation in itself is cause for concern. But in regard to the general public a mutation does not have the same import. In order to understand the meaning of a mutation in a member of the general public, "we need to develop functional assays in order to determine what a mutation means," says Rick Fiskel, MD, (3) a member of the team that pinpointed the genes which dispose for colon cancer. To sum up, there is need for much greater accuracy before gene testing for genetic disease will be a reliable proposition. Putting genetic tests on the market will certainly attract many people to utilize the tests who have little risk of cancer. Will this be beneficial or will it merely increase questionable expenditures?
Another ethical issue concerns the need for counseling for those who seek genetic information. Counseling for people seeking genetic information is of two kinds: psychological counseling and genetic counseling. The need for psychological counseling occurs when people wish to determine whether they are subject to fatal genetic disorders, such as Huntington's disease. Usually, people who request such testing have had relatives who have died from the disease. If the test is a true negative, then the person will be relieved and the test may be considered "successful. But if the test is a true positive, other issues are involved. The results of the test will not "save the person's life" because the mutative genes which give rise to the disease are already present. Will positive results be devastating for afflicted individuals? It seems that good psychological counseling can help persons avoid severe depression. One long term study of potential Huntington patients suggests benefits of testing whether results are positive or negative, if accompanied by competent psychological testing. (4)
Genetic counseling is another question. Genetic counseling is essential to educate patients about genetics, about probabilities, about false negatives and false positives. But at present there are only about one thousand genetic counselors in the United States, not many outside university centers. The general population will seek help in interpreting genetic tests from their primary care physicians. "Most doctors have only the vaguest idea of the implication of genetic testing," says Bruce Ponder of Cambridge University, a member of the team isolating the genes involved in breast cancer. (5) Is there hope that physicians will be able to achieve this knowledge? At present, while there are thorough courses in genetic theory present in medical school, there is little attention given to the implication of genetic testing. Hence, sufficient opportunity for physicians to obtain this knowledge should be offered through continuing education programs in order to offset the ethical issues which might result from inaccurate counseling.
The question that has puzzled me for some time is whether or not genetic mutations are really errors in the long run. Given the knowledge that we are all mortal beings, and that we share in a common genetic inheritance, are we really making progress for society as a whole if we eliminate the effects of individual genetic mutations? Jared Diamond brought out this point a few years ago when discussing the tendency of Ashkenazic Jews to develop Tay-Sachs disease due to a genetic disposition to accumulate fats. (6) He suggests that many common diseases may persist because they bring both blessings and curses. If a person inherits two copies of a faulty gene, the person may die or be seriously impaired as a result. However, if a person inherits only one gene, that is, is a carrier of the genetic disease but not a victim of it, the one defective gene may protect the person against other diseases. Diamond notes that those who are carriers of the Tay-Sachs gene, that is, heterozygotic not homozygotic, seem to be protected from tuberculosis, even though they lived at a time and place when the TB was common. Whatever the value of the foregoing consideration, it is clear that our genetic inheritance has a social dimension as well as a personal effect. Will the gene pool for future generations be affected by efforts to eliminate genes which are harmful for individuals?
Moreover, who will benefit from genetic testing? Will it be confined to those who have health care coverage? Will genetic testing and the ability to combat some future genetic anomaly be available to the uninsured? Underlying every advance in health care technology should be the realization that over forty million people in the United States have limited access to health care. This is the basis for a petition signed by several religious leaders to prohibit the current practice of allowing commercial corporations to patent human genes and genetically engineer animals, thus putting these valuable sources of health and well-being beyond the reach of many people.(7)
Finally, in the future, how will we look upon those who have genetic defects? At present, we tend to sympathize with people who have genetic defects and offer compassionate care. We subsidize the care of genetically debilitated persons through home health care or institutional care. But in the future, will we be as concerned about people with disabilities if we think their disabilities could have been avoided? The information resulting from genetic studies will perhaps enable cures to be developed for some fatal diseases. But I believe the genetic information and genetic therapy will change the way we relate to one another. Our attitudes toward life, death, disability and suffering will be changed. Do we have the wisdom to use our new found knowledge and technology to improve the well-being of all?
Conclusion
An old Irish proverb states: "If you want to see God smile, tell him your plans. In other words, our new genetic knowledge and technology should be developed and applied carefully.
Kevin O'Rourke, OP
Footnotes 1) R. Nowak, "Genetic Testing Set to Take Off," Science (July 22, 1994) p.464.
2) National Center for Genome Research, "Human Genome Project: From Maps to Medicine," NIH 1995.
3) R. Nowak, p. 465.
4) Law Reform Commission, "Canadian Collaborative Study of Predictive Testing," 1992.
5) R. Nowak, p. 465.
6) J. Diamond, "Curse and Blessing of the Ghetto," Discover (March 1991) p.60-66.
7) E. Andrews, "Religious Leaders Prepare to Fight Patents on Genes," New York Times(May 12, 1995).
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