When we study genetics, questions involving the probability of some event occurring are frequent. Heredogram studies show us the family history and the probability of a couple having a child with a certain disease, for example. A practical application of this area of genetics is genetic counseling.
O genetic counseling it consists of checking the probability of a genetic disease occurring in a family. In addition, it can guide couples who are thinking about having children, but have a high probability of transmitting some pathology or malformation. Through counseling, it is possible to observe these probabilities, as well as the consequences for the baby and the family, thus helping in decisions about a couple's reproductive future.
Genetic counseling is usually indicated for people with a history of cancer or degenerative diseases in close relatives. For those who want to have children, it is recommended for couples of advanced age, with a genetic disease or with children who have malformations and/or anomalies. It is also important that couples who have family ties, such as cousins, have exams. In cases of repeated abortion and infertility, counseling is also essential.
Genetic counseling has a few steps. First, the patient or the couple will be submitted to a series of questions in order to ascertain the real risks of a genetic and/or hereditary disease. These questions will be fundamental to knowing each one's family history. It is usually a very time-consuming phase, as a large amount of information must be collected. After that time, physical examinations will be performed. Finally, some complementary tests will be done, such as the karyotype.
After diagnosis, clarification begins on the probabilities and how prevention should be done, when possible. The couple and/or the carrier must be aware of all the risks and consequences, hence the need for monitoring by competent professionals. The main point is to show the patient what their life will be like from that moment on, as a genetic disease generates psychological and even economic risks and limitations.
Carrying out tests to verify the presence or not of a defective gene is a very complicated matter. Early diagnosis can be of fundamental importance in certain diseases, however, some still remain incurable and, therefore, some people choose not to undergo this type of examination.
Another very difficult point concerns the diagnosis of illnesses in the baby during pregnancy. In some cases the diagnosis can be very painful and traumatic. After all, it is often best to interrupt the pregnancy, an extremely difficult decision. Therefore, the best option is to carry out counseling even before a pregnancy.
Due to the complexity of genetic monitoring, a multidisciplinary team with knowledge in medical genetics is required. In addition, psychological counseling is essential.
by Vanessa dos Santos
Graduated in Biology
Source: Brazil School - https://brasilescola.uol.com.br/biologia/aconselhamento-genetico.htm
