Genetic Screening

Genetic screening: what is it and why is it needed?

Genetic screening is testing that can detect the presence of genetic changes associated with various diseases. Such changes may be inherited from parents or occur during the course of a person's life. Genetic screening can identify the risk of developing diseases that may be inherited from parents or caused by gene mutations that occur during life.

Genetic screening can be done at various stages of life, including childhood, adolescence and adulthood. For example, genetic screening may be performed on pregnant women to determine the risk of certain inherited diseases in the unborn child. Testing may also be done in adults who have relatives with hereditary diseases to determine their own risk.

One example of genetic screening is mutation analysis of the BRCA1 and BRCA2 genes. These genes are associated with an increased risk of developing breast and ovarian cancer in women. If genetic screening reveals the presence of mutations in these genes, the risk of developing cancer increases and the woman may decide to have a prophylactic mastectomy or removal of the ovaries.

Another example of genetic screening is testing for genetic abnormalities in newborns. This test can help identify the presence of genetic changes that can lead to various diseases such as cystic fibrosis, phenylketonuria and cystic fibrosis.

However, genetic screening also raises certain ethical and social issues. For example, recently genetic screening has begun to be used to determine the sex of an unborn child. This has sparked debate in wider public circles as it could lead to the choice of a child's gender based on the parents' wishes, which raises certain ethical questions.

Overall, genetic screening has great potential for the prevention or early detection of inherited diseases. However, its use must be carried out with caution and take into account ethical and social issues.