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.