Genetic Counseling and Testing

Genetic Counseling and Testing: Genetic counseling makes it possible to know the likelihood of a genetic disease running in a family.

Genetic Counseling and Testing

When we study genetics, there are frequent questions involving the probability of some event occurring. Studies of pedigrees show us family history and how likely a couple is to have a child with a certain disease, for example. A practical application of this area of ​​genetics is genetic counseling.

Genetic counseling consists of testing the likelihood of a genetic disease running in a family. In addition, it can guide couples who are thinking about having children, but who are very likely to transmit 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 regarding a couple’s reproductive future.

Genetic Counseling and Testing

Genetic counseling is usually indicated for people with a history of cancer or degenerative diseases in close relatives. For those who intend to have children, it is indicated for couples with advanced age, carriers of some genetic disease or with children who have malformations and/or anomalies. It is also important that couples who have family ties, such as cousins, undergo examinations. In cases of recurrent miscarriage and infertility, counseling is also essential.

Genetic Counseling and Testing: 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 some genetic and/or hereditary disease. These questions will be fundamental to knowing the family history of each one. 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 carried out, such as the karyotype.

Genetic Counseling and Testing

After the diagnosis, clarification begins on the probabilities and how prevention should be carried out, when possible. The couple and/or the carrier must be aware of all the risks and consequences, hence the need for follow-up by competent professionals. The main point is to show the patient what his 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 absence of a defective gene is a very complicated matter. Early diagnosis can be of fundamental importance in certain diseases, however, some still remain without a cure and, therefore, some people choose not to perform this type of exam.

Another very difficult point concerns the diagnosis of diseases 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, the performance of a multidisciplinary team with knowledge in medical genetics is necessary. In addition, psychological support is essential.

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