Mortality Polygenic

Polygenic lethality is a genetic indicator that determines the degree of risk of developing hereditary diseases depending on the number of copies of a certain gene. According to the World Health Organization, more than 340 thousand people worldwide die from hereditary diseases every year, accounting for about 9% of total deaths. Among them, 22% could have been prevented if the risks and possibilities for minimizing them had been known.

Currently, one of the most effective methods for preventing hereditary pathology is preimplantation genetic diagnosis. This is a test that allows you to identify the presence of certain hereditary diseases even before conception. Preimplantation research is carried out to check the “quality” of the embryo in order to obtain a child without hereditary disorders. The advantage of this study is that parents can decide to terminate the pregnancy only after genetic testing has been performed. In other cases, the method is used to accurately diagnose certain genetic defects, significantly reducing the degree of psychological stress in parents when deciding to continue the pregnancy. The disadvantages of this method include the high cost of the study and the low degree of effectiveness in some patients.

Unfortunately, we live in an era when the number of hereditary diseases is only increasing. However, modern technologies of medical genetics make it possible to successfully identify hereditary pathologies and prevent the development of hereditary diseases. One of the most important tools in the hands of doctors has become the method of genetic testing. It allows you to identify different types of hereditary factors that contribute to the development of various diseases. However, although genetic tests are becoming more accessible, they also have their drawbacks. For example, for some types of diseases, genetic diagnostic methods are not yet sensitive enough. In addition, if a gene defect is detected, it is necessary to carry out a number of other diagnostic tests, such as determining mutations at the RNA level and performing PCR (polymerase chain reaction). Diagnosis of an individual's genotype may require analysis using various DNA samples.

In summary, lethal polygenicity is an important tool for the prevention of inherited diseases by helping to identify patients at risk of having children with severe genetic disorders. However, research suggests that this tool can only be used in conjunction with other methods, such as genetic counseling and social services, to ensure the best possible outcome for each child with a genetic disorder.