Predictive Setting

Predictive genetic testing holds the power to inform individuals, prior to the onset of symptoms, that they are destined to develop or are at increased risk to develop a hereditary disorder. Experience with predictive genetic testing for adult-onset conditions such as Huntington disease and hereditary cancer syndromes has led to the development and strong endorsement of a multidiscipli-nary approach to predictive genetic testing that includes pre- and posttest genetic counseling protocols.12,13 This approach allows the patient to explore his or her motives for testing, expectations, the risks and benefits of testing, and coping strategies prior to testing. This is especially important when there is no treatment or medical intervention for the disorder. Most predictive testing protocols require at least two pretest counseling visits (see Table 3-1) to allow the patient time to consider the benefits and risks of testing, develop a support network during the testing process, and ensure voluntary participation in testing. Experiences with Huntington disease testing have shown that patients are at risk for adverse outcomes after disclosure of predictive genetic test results.15 Result disclosure should always be done in person by a genetic counselor or health professional knowledgeable about the

Table 3-1. Elements of Pretest Predictive Genetic Counseling14 Obtain family history and confirm diagnoses Review natural history and inheritance of condition, as well as a priori risk

Discuss the benefits, limitations, and risks of testing, and the confidentiality of test results Discuss motives for testing, anticipated result, psychosocial preparedness, and support system Present alternatives to testing and assure that testing is voluntary and informed consent is provided disorder and the implications of the test result.14 Also, a support person for the patient should be present at the pre- and posttest counseling visits.

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