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Assessing Genetic Risks: Implications for Health and Social Policy
tion regarding testing and its implications; and supported decision making. In this process, certain ethical principles should be maintained: (1) testing will be voluntary; (2) confidentiality will be maintained; and (3) parental options will be protected and respected.
The committee recommends that additional research be conducted in two areas related to genetic counseling in prenatal diagnosis:
A variety of approaches to counseling and informing of results should be evaluated in terms of (1) what the client has learned; (2) whether the client has been offered the opportunity to explore his/her feelings and reactions to the information; and (3) general satisfaction with the way counseling was provided and information reported.
Additional research is needed on the impact of prenatal diagnosis, particularly its immediate and long-term impact on women. Such research should include the psychosocial implications—both at the time of pregnancy and later in life—of decision making about selective abortion of a fetus diagnosed with a genetic disorder that may develop early in life. The committee believes that such research will provide important information for the design and evaluation of genetic counseling for prenatal diagnosis for the future both in primary care and in specialized genetics settings.
Screening for Late-Onset Disorders
In general, neither physicians nor genetic counselors are yet well prepared to deal with the complexities of counseling for late-onset disorders. Therefore, the committee believes that such counseling initially should be provided in a specialized genetics center familiar with the genetics and psychosocial aspects of the disorder in the context of pilot studies. The committee recognizes that—once direct DNA testing can be performed in an individual for the single-gene defects predisposing to breast and colon cancer—there are not enough trained personnel to carry out the recommended counseling. The committee recommends research on genetic testing for breast and colon cancer, including psychosocial impacts, the impact of knowledge about susceptibility genes on the willingness to be tested, and compliance with recommended medical regimens. This research should include caregivers other than geneticists, since it is likely that much testing of this kind will be carried out by nongeneticists in the future.
The committee recommends the development of innovative methods for multiplex testing, with the grouping of tests by related types of disorders that raise similar issues in terms of the significance of their implications (including the availability of effective treatment and how soon treatment needs to be