Genetic counselling
The functioning of our body is ensured by the joint operation of countless genes. If even one of our genes is faulty, it can result in the development of various diseases.
During genetic counselling, the patient discusses the risk, presence, and consequences of one or more genetic disorders with a clinical geneticist experienced in genetic disorders. Counselling can take place before a genetic test (pretest counselling), when the appropriate genetic test is chosen and the consequences of the testing are discussed, or after the test (post-test counselling), when the evaluation of the result and the possibly necessary next step are discussed between the patient and the specialist.
When is it worth taking part in genetic counselling?
Genetic counselling can be used in many cases, including:
- family planning
- pregnancy
- genetic diseases occurring in the family or cumulative diseases (e.g. tumours, thrombosis)
What happens during genetic counselling?
The first step in genetic counselling is to record the patient’s complaints (if any), medical and family history. During this, the patient shares their own previous illnesses and diseases occurring in the family.
In case of pretest counselling, the appropriate test is chosen with the help of the specialist. The consequences of having or not having the test is discussed. Pretest counselling does not oblige the patient to do anything. After the counselling, you can freely decide whether or not to take the test, but at the same time you can make your decision in an informed way.
During post-test counselling, the patient discusses the results of the already completed test with a clinical geneticist. It is discussed what the result means, what consequences it has in relation to the patient’s life and health, whether it is necessary to have additional genetic or non-genetic tests done. If a genetic variation is detected, during the counselling, it is discussed in each case how the particular variation is inherited, therefore what risk the family members of the examined person must take into account regarding the variation.
During genetic counselling in case of family planning, the couple’s age, illnesses and family history are discussed, and based on these, they receive information about whether they have an increased risk of a genetic abnormality. If so, the extent of this risk and what options are available to reduce or eliminate it are discussed. In case of couples with a general risk, it is also possible to use screening tests (e.g. chromosome testing, CFTR gene mutation carrier screening, SMA screening), which can help identify a variation that may not have caused disease in the family so far. In addition, it is also possible to screen for certain anomalies that cause infertility, if the couple requests it. Of course, even in case of family planning, genetic counselling does not oblige the couple to have any tests. However, in the light of counselling, the couple can make an informed decision regarding the use of tests.
In case of a confirmed pregnancy, it is possible to (non-invasively) screen the fetus for chromosomal abnormalities from the mother’s blood with the NIFTY test. The test is comprehensive and accurate, as it detects abnormalities on all 23 chromosomes and screens for an additional 96 different genetic abnormalities. The sensitivity of the test has been proven to be over 99% for trisomies 21, 18 and 13 (determined from testing 147,000 pregnancies).
How should I prepare for genetic counselling?
If you already have a genetic or other important finding, please bring it with you to the consultation. If one of your relatives has a genetic diagnosis and you visit us in this regard, please bring the relative’s findings with you.
Why should you see a clinical geneticist?
During genetic counselling, the patient always receives information tailored to their needs regarding a particular disease, abnormality, or risk thereof. After counselling, you can make a conscious decision about the use of tests, about having children, about your lifestyle or about carrying out possible additional screening tests. In this way, the possible genetic deviation can be diagnosed in time and, in some cases, treated, its consequences can be mitigated and avoided.
