The following HTML text is provided to enhance online
readability. Many aspects of typography translate only awkwardly to HTML.
Please use the page image
as the authoritative form to ensure accuracy.
Assessing Genetic Risks: Implications for Health and Social Policy
patients at risk for treatable illnesses should be informed of the potential benefits—as well as potential medical, social, and economic harms—of genetic testing and about possible treatment interventions. Nondirectiveness should remain the standard of care for reproductive planning and reproductive decisions surrounding prenatal diagnosis, as well as counseling concerning untreatable disorders. Full informed consent before genetic testing based on consideration of all the available options will continue to be essential whether or not the condition is treatable (see Chapter 8). Even when diseases are treatable and physicians offer medical advice about genetic testing and follow-up treatment, it will still be important for physicians to balance their medical advice with concern for their patient's right to make an informed decision different from the one recommended by the physician. This is especially crucial in genetic testing, since genetic information carries more personal, family, and social risks and burdens than many other kinds of medical information. Research to demonstrate high specificity and sensitivity will be especially critical before genetic tests for treatable disorders should be recommended by physicians or other health professionals. Where treatment or prevention is only partially effective, detailed counseling will be needed to describe the outcomes of various treatment options within the context of the natural history of the disorder. Patients need knowledgeable advisors to provide the latest information on possible outcomes to serve as the basis for informed decision making. Considerations of quality of life also need to be discussed when therapy is only partially effective. The committee believes that genetic counseling, if truly person centered, should be inherently flexible and variable. A standard of care should be based on the objectives of genetic counseling: to support the client in making voluntary informed decisions and help the client to cope with the emotional suffering related to genetic conditions. A goal of reducing the incidence of genetic conditions is not acceptable, since this aim is explicitly eugenic. Also, professionals should not harbor implicitly eugenic goals of preventing births or otherwise influencing reproductive or other decisions. The principle of autonomous decision making requires that providers not present any reproductive decisions as "correct" or advantageous for a person or society. Since couples at risk for genetic diseases in their offspring may differ in their reproductive choices, the decisions about whether to reproduce or to abort an affected fetus are individual choices that should be left to each couple. Similarly, a decision about whether to test for the presence of genes or gene complexes that predict the likely development of future disease that cannot be treated should be an individual decision, and will often require extensive genetic counseling to consider the benefits and burdens of such a choice; in these circumstances, some persons will choose testing and others will not. Even when treatment becomes possible, some of these decisions may be still be painful, costly, and uncertain, and still require extensive genetic counseling.
The committee believes that informed consent is essential to ensure individual autonomy in decision making. The committee therefore recommends