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Assessing Genetic Risks: Implications for Health and Social Policy
tion mean for future insurability, employability, personal and social stigma, and discrimination? Along with their questions, people bring a wide variety of values and personal health beliefs about the central issues raised by genetic testing to the genetic testing and counseling experience.
Genetic counseling is the context for helping people address such issues. The communication of information and the process of counseling cannot be done in a vacuum; they are relevant only as they apply to each particular client's concerns and needs.
This chapter includes background information on the nature and basic components of genetic counseling in various settings (newborn screening, carrier detection, prenatal diagnosis, and screening for late-onset disorders). It also reviews critical issues facing genetic counseling today and for the future. Among these critical issues are nondirectiveness; informed consent; confidentiality; multiplex testing; recognizing social and cultural differences; and the need for a genetically literate public.
Many people who undergo genetic testing receive "good news" and reassurance with their genetic test results. They may learn definitively, or with a high probability, that neither they nor their children have a specific genetic disease. Many other people also learn that they and their children do not carry the gene(s) for that disorder. However, even favorable news and reassurance may affect people's concepts of themselves and their families, and may lead to what is called "survivor guilt" and a sense of ostracism from affected members of the family (Quaid, 1992; Wexler, 1992).
Other people who undergo genetic testing will be informed that a genetic disorder or genetic susceptibility has been identified in their fetus, their children, or themselves. Test results may be deeply troubling for those who receive a diagnosis of a genetic disorder or carrier status, raising fundamental questions of medical vulnerability, as well as personal and social image and identity. Individuals may perceive that they are "flawed," "imperfect," "defective,'' "inadequate," or "abnormal," or may have concerns that others will perceive them or their progeny in these terms (Kessler, 1979, 1981; Lipkin et al., 1986). The counselor acts as a resource in dealing with the sadness, loss, anger, guilt, or anxiety that genetic information can bring (Kessler et al., 1984).
In educating and counseling about genetics, the counselor must convey the varying nature of genetic risk and our varying ability to predict such risks. Our ability to predict genetic risk varies with mode of inheritance, severity of disorders, and other essential factors, such as environmental and/or combinations of genetic factors, that must be present before genetic susceptibility will be expressed as disease. The prediction of genetic risk also depends on the sensitivity and specificity of the test itself and the quality of laboratory procedures (see Chapter 3).
The immediacy of decision making is another key variable in genetic testing and counseling. The time pressure surrounding genetic testing varies by circum-