Das MGZ folgt den Empfehlungen der Gesellschaft für Humangenetik (GfH) und nimmt regelmäßig und mit Erfolg an externen
qualitätssichernden
Maßnahmen (BVDH, EMQN) teil. Stand 04.02.2012 © MGZ - Medizinisch Genetisches Zentrum
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.
