What's your mutation?

While genetic testing in Russia has not become routine, scientists at Pirogov University have developed a digital platform to analyze the genetic compatibility of potential parents, which in the future will allow everyone to learn about their risks.

Every year, about 25 thousand children with rare genetic pathologies are born in the country. But modern medicine can reduce the risks of such outcomes and give birth to healthy offspring even those who coincided with a partner in mutations. Preconceptual genetic screening is one of the most rapidly developing areas of medicine in recent years. It is carried out during pregnancy planning or even family planning. It allows you to fully assess your risks and make an informed decision about parenthood. In addition, for couples at high risk of having children with hereditary diseases, it is now possible to give birth to healthy offspring with the help of IVF and preimplantation diagnosis (it allows you to select healthy embryos before transfer to the uterus). So the main task of preconceptual screening is to provide the family with all the necessary information so that it can independently make a decision that corresponds to its own beliefs, ethical norms and life priorities.

While in our country, such a survey has not yet become a routine practice, and people pass it only on their own initiative. The main reason is the lack of public awareness, which often gives rise to unreasonable fears. There is nothing terrible or even unusual about carrying mutations - on the contrary, it is the natural state of every person. And everyone has one or another genetic variant that can shoot the disease in a child if the partner is a carrier of the same variant.

Each of us carries at least 5-10 genetic hereditary mutations that can cause disease in offspring. But even if you match the mutations with your partner, not all diseases that can develop in your offspring will be life-threatening. Some do not pose a serious threat. For example, many people do not know that they have Gilbert syndrome for the rest of their lives, since its main symptoms are yellowing of the skin during SARS. Or, for example, with hemochromatosis - a genetic disease - the removal of iron from the body is disturbed, which also rarely leads to serious health problems. However, there are more serious diseases. Thus, the transmission of adrenogenital syndrome to offspring can slow growth and development in boys and cause the appearance of male sexual characteristics in girls. Today, diagnoses such as cystic fibrosis and spinal muscular atrophy are widely known, which are highly likely to be transmitted from parents who are carriers of mutations.