Human Genetics Counseling
A genetics consultation is essentially an informative meeting intended to enable a patient to make decisions regarding his or her health while taking into account as many aspects of a particular problem as possible. Part of this process includes tracing a patient’s family medical history and creating a genealogy of possible inherited diseases as well as a syndromological examination of the patient. Genetic counseling should not be instructional; patients may also have more than one consultation.
There are many indications for genetic counseling. Diseases caused in whole or in part by genetic mutations are found in practically all areas of medicine. These include diseases found in pediatrics, neurology, and oncology.
In the area of prenatal diagnostics, genetic counseling is especially important. Parents should be informed of the possibilities and limitations of genetic diagnostics within the framework of a human genetic consultation, so that they may make an informed personal decision.
Many couples unable to conceive choose to take advantage in vitro fertilization. An inability to conceive could be caused by cytogenetic or molecular genetic aberrations; diseases of potentially genetic origin should therefore be clarified in order to properly assess the risk of having a child with a genetically inherited disease.
A genetic consultation may 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 counseling and diagnostics:
Human genetics counseling 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);
- 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 counseling.
Genetic counseling is available in German and English at all of our locations (see Branches and Branch Offices). At our offices in Munich we also offer genetic counseling in Italian, French, Spanish, Portuguese, Turkish, Russian, Serbian, and Farsi. Should counseling in a language other than English or German be required, please indicate as much when making an appointment. Appointments can be made by calling +49 (0)89 30 90 886-0.