Genetic counseling or genetic mapping is a process done with the objective of identifying genetic changes that can be passed on to future generations, as well as the risk of these changes to the person. Find out what genetic counseling consists of.
This process has several applications, which can be used in pregnancy or prenatal planning, to check if there is any chance of alteration in the fetus, and in cancer, in order to assess the chances of cancer occurring and establish the possible severity and treatment.
Stages of genetic counseling
Genetic counseling takes place in three main stages:
- Anamnesis: in this stage the person fills out a questionnaire containing questions related to the presence of hereditary diseases, problems related to the pre or postnatal period, history of mental retardation, history of abortion and presence of consanguineous relationships in the family, which is the relationship between relatives. This questionnaire is applied by the clinical geneticist and is confidential, and the information is for professional use only and with the respective person; Physical, psychological and laboratory tests : the doctor performs a series of tests to check if there are any physical changes that may be related to genetics. In addition, childhood photos of the person and his family can be analyzed to also observe characteristics related to genetics. Intelligence tests are also carried out and laboratory tests are requested to assess the health status of the person and his / her genetic material, which is usually done through the examination of human cytogenetics. Molecular tests, such as sequencing, are also performed to identify changes in the person's genetic material; Elaboration of diagnostic hypotheses: the last stage is performed based on the results of physical and laboratory exams and analysis of the questionnaire and sequencing. With this, the doctor can inform the person if he has any genetic alteration that can be passed on to the next generations and, if it is passed, the chance that this alteration has to manifest and generate the characteristics of the disease, as well as the severity.
This process is done by a team of professionals coordinated by a Clinical Geneticist, who is responsible for guiding people regarding hereditary diseases, chances of transmissibility and manifestation of the diseases.
What is Genetic Mapping for
Genetic mapping is done with the aim of verifying the risk of developing certain diseases. This may be possible from the analysis of the entire genome of the person, being possible to observe any type of alteration that may favor the occurrence of diseases, especially cancer with hereditary characteristics, such as breast, ovary, thyroid and prostate, for example.
To do the genetic mapping, it is necessary to be recommended by the doctor, in addition, this type of exam is not recommended for all people, only for those who are at risk of developing hereditary diseases, or in the case of marriage between relatives, for example, called consanguineous marriage. Know the risks of consanguineous marriage.
