Societies are responsible for establishing rules and guidelines for the use of genetic technology, and this is a task in which bioethicists play a major role. In fact, as early as the 1960s, the goal of bioethicists was to protect patients and research subjects from the attitude that "doctor knows best." Scientists were urged to heighten their regard of individuals' welfare and to obtain informed consent from subjects prior to their participation in treatments and experiments. Concern for the rights of research subjects escalated even further in the 1970s, when a scandal arose concerning a study in which the U.S. Public Health Service investigated a large group of syphilis patients without treating them (Bailey, 1999). This controversy provoked the growth and fortification of the institutional review board (IRB). Now, IRB approval is mandatory for all federally funded research using human subjects. Reliance on an IRB ensures that any potential risks related to an experiment are minimal compared to the potential health gains for individuals and society. Thus far, IRBs have been immensely successful in protecting patients and research subjects alike.
It seems obvious that the well-being of research subjects and patients must be protected before certain experiments or treatments are conducted, but can individuals ever be overprotected? In other words, can bioethics ever represent too much of a good thing? In some cases, the answer is yes. For instance, in their attempts to uphold the highest ethical standards possible, doctors and investigators may treat patients and research participants paternalistically, thereby hindering genetic and biomedical testing and research to the detriment of patients who need therapeutics.
Paternalism and Genetic Testing for Disease
To better understand the potential impact of paternalism, consider the case of Joy Simha. Simha successfully battled breast cancer in the mid-1990s, and in 1996, she chose to take a genetic test to determine whether she carried the breast cancer gene BRCA1. Simha knew that having the gene would increase her chances of future breast or ovarian cancer by about 50%, so she decided that if the test was positive, she would have her remaining breast removed as a means of cancer prevention. Simha's doctors, however, refused to give her the results of the test. In doing so, the doctors were following guidelines recommended by prominent bioethics authorities at the time, which stated that the outcome of a genetic test should not be divulged to a patient if a clear treatment was not available. The aim of this recommendation was to prevent patients from experiencing undue stress if diagnosed with an untreatable condition.
Simha was understandably upset with her doctors' decision, and she took her dilemma to the press. Eventually, because of the media hype, her doctors relented and released her test results, which were negative. Knowing her genetic test results thus stopped Simha from taking the risk of undergoing an unnecessary surgery (Bailey, 1999). In this case, the bioethicists were mistaken. Perhaps of greater ethical concern, in attempting to protect the patient, the bioethicists were overlooking Simha's right to make her own decisions regarding her body and her health. Clearly, overprotecting the patient was a factor in this situation, and the potential consequences would have been dangerous rather than protective.
Based on the above scenario, it seems that genetic testing for diseases that can be successfully treated or prevented may be in the best interest of at-risk individuals. But what about disorders that have no cure? Geneticists have isolated many disease-causing gene mutations and therefore have appropriate diagnostic tests; unfortunately, most available tests are for conditions that are untreatable, such as the devastating neurodegenerative disorder Huntington's disease. For such conditions, diagnosis before symptom onset may make management of the disorder more effective, or it may give people the chance to live their lives differently, knowing that they will develop an incurable disease. On the other hand, some bioethicists suggest that diagnosing a genetic disorder before any treatment is available does more harm than good, because it creates frustration and anxiety. Scientists may yet discover effective therapies for these conditions, but until they do, this concern is an important one.
Of course, whether a treatment exists for a disease is not the only pertinent factor when considering genetic testing. As previously mentioned, at-risk patients may want to know whether they are susceptible to developing a disease so that they can alter their lifestyle to make the most of their time while they are healthy. Testing also provides at-risk individuals with the chance to make informed decisions about having children if there is a possibility that they may pass the disease to the next generation (Bailey, 1999). Furthermore, an individual might also experience anxiety as a result of not knowing whether he or she is sick. Here, definitive knowledge from genetic testing may relieve this worry, and it may allow the person take active measures to stay as healthy as possible, as well as to make changes to lead as fulfilled a life as possible.
Paternalism and Genetic Research
Paternalism is not just a factor in the rights of individuals who wish to undergo genetic testing; it can also hinder genetic research. Recently, the number of studies aimed at correlating genetic status with disease vulnerability has increased, and simultaneously, so have concerns regarding participation in this research, because such participation could create the risk of genetic discrimination and emotional distress. Typically, bioethicists concentrate on determining whether the existing protection of human subjects in genetic studies is adequate, instead of whether research data will be compromised if stronger protective guidelines are implemented (Reilly et al., 1997; Wilcox et al., 1999).
When it comes to research, paternalism can also become a concern if bioethical issues are generalized and if the same defensive measures are taken for very different genetic studies. For instance, during the 1990s, a group of scientists wanted to conduct a study to determine whether genetic variations in metabolism affected children's susceptibility to the neurotoxic effects of pesticides. This study aptly required subjects to sign a consent form prepared with the help of a bioethicist, in accordance with guidelines established by the National Institutes of Health. This form stated that the genetic information gained from the study could influence the way parents felt about their children, could cause parental anxiety or depression, and could potentially affect the child's performance in school. These statements may have been valid if the study was investigating genes associated with a hereditary condition, or perhaps if it was investigating disease-causing alleles with high penetrance. However, the metabolism-related genes under consideration in this particular study are rarely linked to disease. Thus, based on the precautions outlined on the consent form, some parents may have opted not to let their children take part in the study, thereby jeopardizing what could have been very important findings (Wilcox et al., 1999). In this instance, because the involved bioethicists did not take the type of allele under investigation into account, they may have been too protective of the subjects and may have endangered significant genetic research. This example shows just how difficult it can be to protect the rights of individuals while simultaneously advancing research.
References and Recommended Reading
Bailey, R. Warning: Bioethics may be hazardous to your health. Reason, August/September, http://www.reason.com/news/show/31104.html (1999)
Reilly,
P. R., et al. Ethical issues in
genetic research: Disclosure and informed consent. Nature Genetics 15, 16–20
(1997) (link to article)
Wilcox, A. J., et al. (1999). Genetic determinism and the overprotection of human subjects. Nature Genetics 21, 362 (1999) (link to article)
