Genetic Counselling

A genetic counselling session can address the following topics:

• Personal and familial health histories;

• A diagnosis or the initiation of genetic testing that will lead to a diagnosis;
• Identification of the pattern of inheritance and the risk to affected persons and other family members of passing on the disease;
• A request for previous test results, either from the patient herself or from family members (with the appropriate permission to access confidential medical records;
• Physical examination;
• A discussion of findings and test results;
• Recommendations for treatment or therapy and a discussion of further preventative testing in cooperation with the acting physician;
• The issuance of a detailed report to the patient and his/her acting physician.

Indicators for genetic counselling and  diagnostics

Human genetics counselling and diagnostics are advisable when the patient and/or his or her family members display the following illnesses or concerns:

• Muscular and neurodegenerative diseases, as well as possible genetically-determined functional disorders;

• Complex disorders (suspected of being cause by a genetic syndrome) and diseases caused in part by genetic factors (multifactorial diseases);
• Deformities;
• Delayed developmental milestones and mental retardation
• Inherited metabolic disorders;
• Familial accumulation of tumor diseases and suspicion of a familial tumor syndrome;
• Inability to conceive children and/or habitual miscarriages;
• Planned or actual pregnancy with:
  • parents of advanced age
  • conspicuous findings in the first trimester-/triple-test or ultrasound
  • family members affected by a disease of possible genetic origin
  • persons affected by teratogenic noxa (medication, radiation, chemicals, illnesses) during pregnancy
  • a planned in-vitro fertilisation

The required genetic testing can then be performed or initiated at our practice, within the framework of genetic counselling.