fessional groups should also consider developing guidelines to help IRBs cope with this added responsibility, such as the informed consent guidelines for research involving genetic testing developed by the Alliance of Genetic Support Groups and the American Society of Human Genetics (ASHG) (see Chapter 4).

The committee recognizes that, for very rare diseases and diseases with a long lead time between the time of the test and the appearance of disease, it will be difficult for FDA applicants to provide adequate data on safety and effectiveness for subjects of the type in whom the test would be applied (e.g., presymptomatic individuals). It may also be impossible to assess the sensitivity and specificity of prenatal tests by independent tests or histopathological examination of aborted fetuses. For rare diseases, the FDA could grant the applicant "provisional premarket approval," a designation under which the test could be made more widely available while making the manufacturer responsible for obtaining additional postmarket data until sufficient data are available to warrant full "premarket" approval. This process may require new legislation, but the committee believes that provisional premarket approval, with the sponsor responsible for periodic postmarket study, adequately covers the development of tests for rare conditions, which is the intent of the "humanitarian device exemption" (contained in the Safe Medical Device Amendments of 1990). And since manufacturers may be unwilling to go through premarket approval of tests for rare diseases, Congress should also consider the need for legislation in the spirit of the Orphan Drug Act that would give manufacturers an incentive to develop diagnostic medical devices for genetic tests of limited marketability.


Genetic counseling and education must be an integral part of genetic testing. Anyone who is offering (or referring for) genetic testing must provide (or refer for) appropriate genetic counseling and education prior to testing. To ensure that adequate genetic counseling is provided to all those seeking genetics services, a cadre of individuals trained in medical genetics and counseling must be available. Primary care practitioners and allied health professionals must have a minimal basic understanding of medical genetics and counseling (see Chapters 4 and 6). Efforts must also be made to ensure that the public is sufficiently educated to be informed consumers of genetics services (see Chapter 5).

Basic Tenets of Genetic Counseling

The committee believes that certain basic tenets apply, regardless of who is conducting the counseling and where it is being done. These include respect for the autonomy and privacy of the individual, the need for informed consent and confidentiality, and sensitivity to the counselor's tendency toward directiveness and paternalism (see Chapters 1, 4, and 8). The standard of care should be to

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