What is the Genetic Counselling?

Genetic counselling is the common prevention strategy from the danger of hereditary diseases.  It can be done at any age. During the consultation clients advised on the probability of hereditary diseases in the offspring, methods of screening the genetic background of the child and the parents, prenatal and postnatal diagnostics and monitoring. Counselling can also provide clients with the support in managing the genetic condition, provide a reference to a wide variety of specialists and help with ethical questions.

Genetic counselling is the most effective when couples consult geneticist prior to conception of the child. Results obtained from the specialist can help to make the important decisions about family planning and childcare. 

Who should consider genetic counselling?

Ideally, every couple planning to have kids should consider visiting a geneticist. However, there are people who are at risk of having a child with hereditary disease. 

•    People who have any genetic disease and have relatives affected by it or there is any suspicion that the disease is genetically transmitted.

•    Consanguineous families (couples that are related to each other, e.g. cousins).

•    Couples that were exposed to the known factors or substances that can cause birth defects prior to or in the early pregnancy stages.

•    Women that received abnormal results from biochemical screening during the pregnancy

•    Couples that have children with diagnosed chromosomal abnormalities or showing signs of developmental problems during the ultrasound screening.

•    Mature couples (women over 35 and men over 40)

 

What happens during genetic consultation?

Counselling includes three major steps.

First step is a genetic screening. It is performed using several specialised methods. One of them is a genealogical research that provides information about the occurrence of the disease in the family and helps to predict the risk for the offspring. Other methods can involve biochemical testing to find any markers of the diseases that can be hidden, ultrasound and amniocentesis.

Second step is a prediction of the effect on the offspring or individual life of someone diagnosed with genetical disorder.  For example, a person that has a mutation in BRCA1 gene has a 65% risk to develop a breast cancer.

Third step is a detailed explanation of the nature of the disease, strategies to avoid the condition or to coop with it. Discuss with the clients about monitoring options and family planning suggestions.

 Families are provided with guidance and support throughout the sessions of counselling.