It's not too late yet: genetic screening of newborns has begun in Russia

Tomsk geneticists summed up the results of a large-scale three-year study covering the Siberian Federal District and Yakutia. Specialists examined 375 thousand infants, identifying risk groups and confirming rare hereditary pathologies in hundreds of children, which allows starting therapy before irreversible symptoms appear.

The work of the Tomsk National Research Medical Center (NIMC) RAS demonstrates how personalized medicine is becoming routine. Screening is carried out for 36 hereditary diseases, turning Tomsk into one of the ten key federal centers responsible for deciphering biochemical indicators at the state level. Special attention is paid to families with a burdened medical history, where five healthy children have already been born thanks to tests.

In parallel with genetic control, doctors remind of the importance of basic prevention. For example, regular oral hygiene and neurons are more closely connected than it seems: caries bacteria can affect distant body systems. A comprehensive approach to health, from genome decoding to microbiota control, is becoming the gold standard of modern diagnostics.

During the reporting period, doctors assigned 7784 children to the risk group. In-depth testing made it possible to confirm the presence of genetic abnormalities in 221 newborns. It is important to understand that early diagnosis is not just statistics, but an opportunity to prevent disability. Genetic materials for tests are taken not only from infants, but also from their parents, which makes it possible to trace the inheritance of defective genes.

The screening system covers a wide range of pathologies — from metabolic disorders to severe immunodeficiency. In conditions where fetal weight and macrosomia can be signals of hormonal disruptions, genetic testing gives doctors an accurate roadmap for managing a patient from the first days of life.

"Early detection of genetic abnormalities allows us to build an individual prevention route even before the disease strikes organs and systems," explained internist Anna Kuznetsova.

Vadim Stepanov, Director of the Tomsk NIMC, identifies preconceptional screening as one of the most promising technologies. This is a survey that is carried out at the planning stage of pregnancy. It allows you to identify the latent carriage of mutations in potential parents, which may not manifest themselves in any way, but manifest themselves in children or even grandchildren. This method significantly reduces the risks of hereditary diseases.

In addition, the spring period requires special attention to metabolism. Genetic predisposition often manifests itself with a sharp change in biorhythms or deficient conditions. Timely healthy weight loss and metabolic support help the body cope with the loads inherent in its "biological code".

"When planning a family, it is extremely important to take into account not only the current state of health, but also the genetic passport of the couple in order to minimize the risks for future offspring," said general practitioner Elena Morozova.

In the near future, neural networks will become an everyday tool of a geneticist. Artificial intelligence is able to analyze millions of genomes in seconds, finding patterns invisible to the human eye. This will make it possible to create personalized therapy protocols, taking into account even hidden changes in tissues and predisposition to serious diseases.

Biobanking is an important vector of development. Preservation of biological samples allows scientists to return to patient data years later, using new diagnostic methods. This is especially important for dealing with complex problems, such as the hormonal background and its seasonal fluctuations, which directly depend on genetic expression.

"Digitalization of medicine and the use of AI in genetics opens the door to the treatment of pathologies that were previously considered fatal," noted endocrinologist Ekaterina Orlova.

But why do we need screening if everyone in the family is healthy? Many genetic diseases are recessive. This means that parents can be healthy carriers of a damaged gene, and the disease will manifest itself only in a child with a combination of two such genes.

How is the procedure for taking material from a baby? Usually this is a "heel test": a newborn in the hospital takes a few drops of blood from the heel on a special filter test form. It is still difficult to correct the gene itself in every cell of the body, but early diagnosis allows you to adjust the diet or prescribe drugs that will prevent the development of symptoms.