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Counseling consultation

What is human genetic counseling?

Human genetic counseling is a session in which information is exchanged between a person who is seeking advice, such as a patient, and a specially qualified physician (generally a physician who is a specialist in human genetics). The consultation is voluntary and is conducted in a non-directive manner. The consultation is intended to help answer questions relating to a possible hereditary disease or developmental disorder. Decisions concerning the use of genetic diagnostics, and consequences for personal life and family planning, are made by the person who is seeking advice.

How does the human genetic counseling consultation proceed?

The content of the human genetic counseling session is based on the individual needs and questions of the person who is seeking advice. The discussion generally lasts around 1-1½ hours. In some cases, further interviews are necessary.

At the beginning of the genetic counseling session, the reason for referral is discussed. Then, the person who is seeking advice is asked to describe their personal medical history. If appropriate, the medical history of other family members is discussed and a family tree over at least three generations is generated. Available medical findings are evaluated in terms of their medical-genetic significance. Occasionally, the procurement of missing documentation is necessary. Depending on the grounds for referral, physical examinations may be carried out or further examinations arranged in collaboration with other departments. If necessary, specific laboratory tests, e.g., chromosome analyses, or biochemical or molecular genetic investigations, will be recommended. In the case of rare malformations, an attempt is made to classify the disease pattern through comparisons with the literature and relevant databases. The person who is seeking advice is informed about the current state of knowledge for the respective medical condition, possibilities for treatment, and the probability that they or their family members will become ill.

Human genetic counseling concludes with the formulation of a written report for the treating physician and the person who has sought advice.

Who pays for human genetic counseling?

Human genetic counseling and the indicated genetic diagnostic procedures are services of the statutory and private health insurance companies. Statutory insured persons can bring either their insurance card (electronic health card) or a referral letter to the consultation.



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