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Genetic Testing - Genetic Counseling

families health care counselors

Generally, patients receive explicit counseling before undergoing genetic testing to ensure that they are able to make informed decisions about choosing to have the tests and the consequences of testing. Most genetic counseling is informative and "nondirective"—it is intended to offer enough information to allow families or individuals to determine the best courses of action for themselves but avoids making testing recommendations. This nondirective approach arose in response to the availability of prenatal testing that is used for reproductive decision making and predictive testing for untreatable conditions such as Huntington's disease, in which the benefit and utility of learning the results of testing are based on deeply held personal values and preferences.

Patients undergoing tests to improve their care and treatment have different pretest counseling needs from those choosing susceptibility or predictive testing. In such instances, genetic counselors do offer testing recommendations, particularly when a test offers an opportunity to prevent disease. As tests for genetic risk factors increasingly become routine in clinical medical practice, they are likely to be offered without formal pretest counseling. Genetic counselors exhort physicians, nurses, and other health care professionals not to discount or rush through the process of obtaining informed consent to conduct a genetic test. They caution that potential psychological, social, and family implications should be acknowledged and addressed in advance of testing, including the potential for discrimination on the basis of genetic-risk status and the possibility that the predictive value of genetic information may be overestimated. The potentially life-changing consequences of genetic testing suggest that all health care professionals involved in the process should not only adhere to thoughtful informed consent procedures for genetic testing, but also offer or make available genetic counseling when patients and families receive the results of testing.

The ASHG describes genetic counselors as health professionals who have obtained graduate (post-baccalaureate) degrees and experience in the areas of medical genetics and counseling. Most genetic counselors enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health, and social work. They are members of interdisciplinary health care teams, providing education and support to families who have members with birth defects or genetic disorders and to families and individuals who may be at risk for a variety of inherited conditions. Genetic counselors identify families at risk, research and interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available options with individuals and families. They also serve as patient advocates and as consultants to other health care professionals.

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