ibility," use of prenatal diagnosis and selective abortion to choose the sex of the fetus, the special impact of prenatal diagnosis on women, and carrier detection in pregnancy rather than prior to conception (see Chapters 2 and 9). Reproductive genetic decisions raise some of the most deeply personal and troubling issues in genetic testing. Professional groups need to work together and develop innovative methods for involving the public in the development of standards for the use of these technologies (see Chapters 2, 3, 4, and 9).
Standards are also needed for genetic testing for predisposition to late-onset disorders. There is an important "window of opportunity" for considering these issues now, before predispositional genetic testing becomes widespread. Tests for predisposition to common disorders will be of great commercial interest, and could have substantial potential for harm to individuals and families in terms of insurability and employability, as well as substantial benefit from the potential of early preventive and therapeutic interventions. Strict guidelines for efficacy will be necessary to prevent premature introduction of this technology (see Chapters 1, 2, and 9). The committee believes that population screening for late-onset diseases should be considered only for treatable or preventable conditions of relatively high frequency and only after appropriate, reliable, sensitive, and specific tests become available; and such tests should be voluntary. In general, because of the significant medical and psychosocial consequences of predictive testing, the committee believes that testing of minors should be discouraged. Instead, research should be undertaken to determine the appropriate age for testing and screening for genetic disorders in minors in order to maximize the benefits of therapeutic intervention.
Multiplex testing—multiple genetic tests on a single blood or other tissue sample—represents one of the most likely innovations in genetic testing. Consequently, the committee also recommends the development of standards for multiplex genetic testing. Innovative methods are needed to group tests by related types of disorders that raise similar issues (including the availability of effective treatment and how soon treatment needs to be instituted), as a basis for appropriate education, informed consent, and genetic counseling. This will allow potential screenees (or parents) to choose which, if any, group of tests they feel is appropriate for them. Tests for untreatable disorders should not be multiplexed with tests for disorders that can be cured or prevented by treatment or by avoidance of particular environmental stimuli. Multiplex testing is also an area in which more research is needed to develop ways to ensure that patient autonomy is recognized (see Chapters 1, 2, 3, 4, and 8).
The committee identified significant data and policy research needs related to genetic testing (see Chapter 9). In addition to its other recommendations, the committee identified several areas in which policy research is needed, including