Genetic counselling is a professional advise given by a genetic counseller about the risk of occurrence of a birth defect or a genetic disorder. The genetic counseller evaluates your personal or family history regarding congenital defects or genetic conditions and coordinates genetic testing, in order to determine your risk to have, develop or transmit a genetic disease.
If a genetic diagnosis has already been made previously, the counseller provides information on the disorder and determines the risk for you or family members to develop the disease. If necessary, genetic testing of you and/or appropriate family members will be suggested and coordinated.
If no genetic diagnosis was made before, the counseller will review the symptoms of the affected family member(s), suggest clinical and genetic tests to arrive to a genetic diagnosis, and discuss the genetic consequences with you.

A typical genetic counselling consists of:

1. First contact where you explain the problem and submit the necessary documentation

2. Second contact by email or phone where a genetic counseller asks you additional questions about your genetic problem

3. Third contact where the genetic counseller will send you a complete written report about your genetic problem

There are three possible situations:

A. The genetic diagnosis is clear and no tests are necessary to estimate the risk for you or family members to develop the genetic disease.

B. The genetic diagnosis is clear but further clinical and/or genetic tests are necessary to estimate your risk: these tests will be suggested and/or coordinated by the genetic counseller.

C. The genetic diagnosis is not clear : the genetic counseller will suggest and/or coordinate clinical or genetic tests in order to arrive to a genetic diagnosis in the affected person. Afterwards your risk to develop the disease or transmit it to your descendants will be evaluated and discussed.4. In all cases you will receive a final detailed report