Genetic Counseling and Molecular Testing
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The provision of genetic counseling should be an Integral component to molecular diagnostic testing for two important reasons: The potential impact (medical and psychosocial) for the individual being tested and for their family is great (1 ) and ensuring informed choice is crucial as uptake of genetic testing varies between conditions and may be <10% (2 –4 ). Many people, once counseled, choose not to be tested, and this choice might be lost if counseling is not provided. Genetic counseling is comprehensive and includes:
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Diagnosis and discussion of prognosis;
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Explanation of the mode of inheritance and recurrence risks;
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Discussion of options, including reproductive and testing;
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Facilitating decision making; and
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Support toward adjusting to the genetic tmphcatrons.
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