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Chapter 064. The Practice of Genetics in Clinical Medicine (Part 5)

Molecular analysis is generally more informative if testing is initiated in a symptomatic family member, since the identification of a mutation can direct the testing of other at-risk family members (whether they are symptomatic or not). In the absence of additional familial or environmental risk factors, individuals who test negative for the mutation found in the affected family member can be informed that they are at general population risk for that particular disease. Furthermore, they can be reassured that they are not at risk for passing on the mutation to their children. On the other hand, asymptomatic family members. | Chapter 064. The Practice of Genetics in Clinical Medicine Part 5 Molecular analysis is generally more informative if testing is initiated in a symptomatic family member since the identification of a mutation can direct the testing of other at-risk family members whether they are symptomatic or not . In the absence of additional familial or environmental risk factors individuals who test negative for the mutation found in the affected family member can be informed that they are at general population risk for that particular disease. Furthermore they can be reassured that they are not at risk for passing on the mutation to their children. On the other hand asymptomatic family members who test positive for the known mutation must be informed that they are at increased risk for disease development and for transmitting the alteration to their children. Clinicians providing pretest counseling and education should assess the patient s ability to cope with test results. Individuals who demonstrate signs and symptoms of emotional distress should have their psychosocial needs addressed before proceeding with molecular testing. Generally genetic testing should not be offered at a time of personal crisis or acute illness within the family. Patients will derive more benefit from test results if they are emotionally able to comprehend and absorb the information. It is important to assess patients preconceived notions of their personal likelihood of disease in preparing pretest educational strategies. Often patients harbor unwarranted fear or denial of their likelihood of genetic risk. Genetic testing has the potential of affecting the way individual family members relate to one another both negatively and positively. As a result patients addressing the option of molecular testing must consider how test results might impact their relationships with relatives partners spouses and friends. In families with a known genetic mutation those who test positive must consider the impact .