Genetic Susceptibility Testing: Ethical and Social Quandaries

The unraveling and discovery of the etiology of cancer has been a dominant, pervasive, and persistently sought after goal. There have been impressive advances in the detection, treatment, and cure of some cancers and improvements in treatment sequelae and even long-term quality of lift. The continuing quest to eliminate cancer has been enhanced by scientific advances in molecular genetics coinciding with the mandate of the National Center for Human Genome Research, sponsored by the National Institutes of Health, to "decipher the human blueprint" (Marshall, 1996, p. 488). As a result it has become possible for DNA testing to detect a person's susceptibility for the development of certain cancers (Collins et al., 1994), including breast and ovarian cancers. Because the results of genetic susceptibility testing for breast and ovarian cancer gene mutations are probabilistic, there are grave concerns that people will take actions that are irrevocable and make decisions based on hope and false assumptions rather than on factual data. It is imperative that people understand the probabilistic nature of genetic susceptibility information and understand that early detection is not prevention and that a positive genetic test result for a breast or ovarian cancer may offer surveillance strategies, but that these are the same interventions that are commonly recommended to all women. Breast cancer in the United States is a serious medical, economic, and social problem that affects individuals, families, and the larger society. The American Cancer Society (1997) reported estimates that breast cancer in 1997 would affect 184,300 women and the mortality would be 44,300 women in the United States alone. Breast cancer is the second major cause of cancer death in women, with increasing age and family history being the greatest known risk factors. Given the prevalence of breast cancer in the United States, the public demand for breast cancer research, and the growth of the genetics era, it is crucial that health professionals be knowledgeable about the numerous and complex issues involved in genetic susceptibility testing including important social and ethical implications. This article, based on in-depth field research, uses breast and ovarian cancer genetic susceptibility testing as a case example to explore issues in this complex area relevant to social work. Because genetic discoveries have a profound effect on social thinking and values, there undoubtedly will be a duty for the social work profession to collaborate with other health professionals in maintaining social justice for their clients and people who are not represented. GENETIC TESTING In a discussion of susceptibility testing for breast and ovarian cancer genes in people who are nonsymptomatic, it is important to understand what the risk (that is, probability) is for the development of a disease. It is of equal importance that risk knowledge be based on scientific estimates and that risk assessment not be guided by potentially misleading risk estimates as often presented by the lay press (Bernstein, 1997). Therefore, in the following discussion of the social and ethical concerns related to the discovery of the breast and ovarian cancer genes, it is important to keep in mind that "breast cancer is a very common disease, but only a small fraction is due to the inheritance of an alteration in a single gene. In order to isolate cancer-predisposing genes such as BRCA 1 and BRCA 2, scientists initially studied families with many members affected by breast and ovarian cancer over several generations" (National Cancer Institute [NCI], 1997, p. 5). In the United States a woman's lifetime risk of developing breast cancer is about 12 percent. An average woman's chances of getting breast cancer is about one in 200 by age 40, one in 50 by age 50, and one in 25 by age 60. About 5 percent to 10 percent of women may have a genetically determined form of breast cancer and their risk is higher. …