Genetic counseling can be thought of a long discussion between the patient and genetic counselor, during which questions regarding hereditary of specific diseases are discussed. Those seeking advice may be affected patients, family members who may be carriers of a disease, or parents who may wish to learn about the risk of further transmission. The genetic counselor is a specialist in human genetics and thus a specialist in hereditary diseases, modes of inheritance, and scientific approaches to diagnosis and treatment. During the counseling, the familial disease occurrence is requested and a disease pedigree is generated, and any existing preliminary findings from other disease specialists are recorded.
Ideally, medical history documents of all family members can be sent in advance so that the genetic counselor can prepare for the counseling session. The main goal of the session is to answer all questions from the those seeking advice.
The consultation also includes a discussion of the potential impact of this knowledge on family planning and the health of the person seeking advice. When those seeking advice decide on a genetic test, a blood sample will usually be taken.
Once the analysis of the genetic material has been completed, the findings will be discussed together. The patient will also be informed of any relevant studies being performed by specialists in specific medical fields. In some cases, particularly for affected children, in whom we were not able to make a diagnosis at the time of first visit, a re-visit at a later date is recommended.
For further information or to arrange an appointment, please contact the Practice for Human Genetics Tübingen (+49 7071 565 44 00, firstname.lastname@example.org).
Reasons for genetic counseling
Suspicion of having a genetic or developmental disorder in the family
Infertility and/or recurrent miscarriages, upcoming in vitro fertilization
Counseling during pregnancy (e.g. with increased parental age, pathological first-trimester screening, conspicuous ultrasonic findings)
Clarification of genetic causes of childhood developmental delays or congenital malformations
Familial clustering of tumor diseases and suspected familial tumor syndrome
Process of a genetic consultation
Documentation of the personal and family medical history, including family history of at least three generations (pedigree analysis) to the extent known
Carrying out a physical examination and discussion of the symptoms
Taking of blood samples and planning of further genetic tests as necessary