Academician of the Russian Academy of Sciences pointed to the effectiveness of the neonatal screening program in the Russian Federation

The federal program of expanded neonatal screening, which started in Russia in 2023, has shown its effectiveness. This was told by the director of the Bochkov Medical and Genetic Research Center (MGRC), chief freelance specialist in medical genetics of the Ministry of Health of Russia, academician of the Russian Academy of Sciences Sergei Kutsev at the Izvestia press center on February 24.

"The screening program, which was introduced in 2023, shows its exceptional efficiency, because we identify our patients at the earliest, preclinical stage, thanks to which they can be helped," he stressed at the press conference.

He specified that the work on screening is carried out in all Russian regions, in 10 laboratories. At the same time, he drew attention to the fact that it happens with the cooperation of all specialists: primary care physicians, obstetric institutions, medical and genetic counseling centers, MGNTs.

"The most important thing is that we always say that screening is not for the sake of screening. Naturally, those patients we identify, they should receive the most modern effective treatment. That is why the Circle of Goodness Foundation plays a huge role in this screening system, which provides patients with modern and effective means," Kutsev added.

According to him, the coverage of neonatal screening - taking samples from newborns - is 99%.

"In the risk group, when there are some changes, usually fall somewhere between 1% and 2% of newborns. This turns out to be an average of 1.6% of those screened. Of these, more than 90% have undergone confirmatory diagnostics in the reference center in the Medico-Genetic Scientific Center," he added.

The academician specified that during 2024 medics managed to confirm the diagnosis of 726 children, of which 430 turned out to have inherited metabolic diseases.

Earlier, on January 24, Russian President Vladimir Putin instructed to provide proposals for the development and application of genetic testing for future parents to assess the risks of hereditary diseases in the child. The task has been assigned to the Russian government and regional authorities, and proposals are expected by May 15, 2025.