Genetic counseling is a multiprofessional and interdisciplinary process carried out with the objective of identifying the probability of occurrence of a particular disease and the chances of being transmitted to the family members. This examination can be done by the bearer of a particular genetic disease and by its relatives and from the analysis of the genetic characteristics, it is possible to define prevention methods, risks and treatment alternatives.
Genetic counseling is most often done in the case of cancer to check the mutation associated with the type of cancer and the possibility of transmission to future generations as well as the chance of cancer occurring and the possible risks.
What does genetic counseling consist of?
Genetic counseling consists of performing tests that can detect genetic diseases. It can be retrospective, when there are at least two people in the family who are carriers of the disease, or prospective, when there are no people with the disease in the family, and it is done to check if there is a chance of developing a genetic disease.
This process is divided into three stages, the first being an anamnesis, in which the person completes a questionnaire, the second stage the physical, psychological and laboratory tests, in order to check for signs of any genetic disease and possible mutations, and the last step is the elaboration of diagnostic hypotheses based on the result of the analysis of the questionnaire and the exams. See the steps of genetic counseling.
Prenatal genetic counseling
Genetic counseling can be done in prenatal care and is indicated mainly in cases of old-age pregnancies, women with diseases that can affect the development of the embryo, and in couples with family ties, such as cousins. Prenatal genetic counseling is able to identify the trisomy of chromosome 21, which characterizes Down's Syndrome, which can help in family planning. Learn all about Down syndrome.
People wishing to do genetic counseling should seek out a clinical geneticist, who is the physician responsible for counseling genetic cases.