Genetic counseling and molecular testing

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: 1. Diagnosis and discussion of prognosis; 2. Explanation of the mode of inheritance and recurrence risks; 3. Discussion of options, including reproductive and testing; 4. Facilitating decision making; and 5. Support toward adjusting to the genetic tmphcatrons.