Genetic counseling (synonym: human genetic counseling) is used to counsel patients who have or fear a congenital malformation, disability, or genetic disease for themselves or their offspring. The individual steps of counseling are outlined below under the topic “The Procedure”.
Indications (areas of application)
Genetic counseling is recommended for patients with the following problems:
- Genetic disorders in the family – e.g., trisomy 21 (Down syndrome).
- Genetic diseases of the pregnant woman or partner.
- Frequent or even early tumor diseases in the family – e.g. mammary carcinoma (breast cancer), colon carcinoma (colon cancer).
- Deformities in the family such as spina bifida (open back), vitia (congenital heart defects), etc.
- One partner (or even both) is (are) known carriers of a genetic disease.
- In a partnership was already born a child with a genetic disease
- Blood relationship with the partner
- As a decision-making aid before an amniocentesis (amniocentesis).
- In case of abnormal findings in gravidity – after amniocentesis, triple test or ultrasound, if necessary by 3-D ultrasound.
- Education and counseling before prenatal (“prenatal”) genetic diagnosis.
- Pregnancies from the age of 35
- Sterility
- Infertility – condition following multiple spontaneous abortions (miscarriages)/deadbirths.
- Mental disabilities in the family
- Medications or infections during gravidity (pregnancy) – e.g. toxoplasmosis, ringworm.
- Radiation exposure during gravidity
The procedure
Genetic counseling includes:
- Collection of health history (anamnesis). Hereditary predispositions by the family are recorded or documented with the help of a family tree diagnosis (history of family members up to the grandparental generation; see also under family history in the health check).
- If there is cause, a physical examination can take place to determine any existing signs of disease.
- Convey information about general genetic risks as well as estimation of the special genetic risk, if any.
- Discussion of the risks of disability, malformation or other possible disease associated with a genetic disease.
- In case of desire to have children or existing gravidity (pregnancy) consultation on method and significance.
- Carrier screening (testing for carrier traits of a genetic disease)Note: Being a carrier does not mean that a recessive disease will be triggered. The double set of chromosomes usually protects against it.
- Genetic test
- Advice on the method and significance of prenatal genetic diagnostics, including the risk of intervention in invasive procedures (eg amniocentesis).
Other procedures within the scope of genetic diagnostics are fluorescence in situ hybridization (FISH), microarray analysis/Array-CGH (= Comparative Genomic Hybridization) and single gene analysis.
After consultation, a decision is made as to which genetic tests are appropriate in an individual case.
Benefit
Depending on the question, the counseling will show the risk of whether your offspring will suffer from a certain hereditary disease or genetic disorder.
Genetic counseling contributes to personal decision-making and shows options for diagnosis and treatment of genetic diseases.
