that informed consent be obtained before any genetic testing (see Chapter 8). The committee also endorses the use of the guidelines developed under the auspices of the Alliance of Genetic Support Groups (AGSG) and American Society of Human Genetics (ASHG). More research is needed about what clients need to know in order to make an informed decision concerning genetic testing and about the most effective manner in which to educate patients in a nonbiased way, and about what standards should be set to ensure that all testing and screening programs meet requirements for informed consent.

The committee recommends the development of balanced descriptions of genetic disorders in culturally appropriate language that is respectful of persons with the disorder(s) and avoids the use of pejorative terms and language. Appropriate genetics professional groups should undertake the development of balanced descriptions of particular disorders, perhaps starting with more common disorders, such as neural tube defects, Down syndrome, and sickle cell disease for which screening is already widespread. Cystic fibrosis would also be a useful example for the development of such balanced descriptions, because the circumstances surrounding CF are changing, such as (1) rapid increases in the identification of additional alleles; (2) improvements in median life expectancy; (3) advances in conventional therapies; and (4) early trials of genetic therapies. Balanced materials should be developed with the participation of individuals and families affected by the disorder as well as by specialized genetics personnel. Such materials should also be tested before use and evaluated to determine their effectiveness and possible sources of bias in communicating information both about the particular disorder and about the potential risks and harms of tests available for the disorder. Any such materials developed and tested in this painstaking way should be shared widely. Dissemination should be carried out through professional societies and voluntary health organizations.

The committee endorses the National Society of Genetic Counselors (NSGC) policy statement on confidentiality. The genetic counselor, as the messenger of potentially devastating or discriminatory information, must honor the patient's desire for confidentiality except under rare special circumstances (discussed in Chapter 8) where breach of confidentiality is necessary to avert serious harm. These special circumstances may involve the potential effects of genetic information on other family members or the potential harm to others if the information is not disclosed. Should a counselor feel a professional or personal need to disclose genetic information to a party other than the patient with whom he or she is consulting, then the potential for that disclosure should be addressed before any diagnostic services are rendered.

Providing Genetic Counseling

As more genetic tests are administered, what is ultimately more important is not who provides such services, but that genetic counseling is provided



The National Academies | 500 Fifth St. N.W. | Washington, D.C. 20001
Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement