Research Centre for Medical Genetics
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Experts Discussed the Future of Neonatal Screening in the Russian Federation

On February 8, 2022, the International Multimedia Center of IIA «Russia today» held a press conference on «Russia and the World: Achievements of Science in the Field of Biomedicine», timed to the Day of Russian Science.

The conference was attended by:

  • Alexander Rumyantsev, Academician of the Russian Academy of Sciences, member of the State Duma Committee on Health Care, President of the National Medical Research Centre for Children Haematology, Oncology and Immunology named after Dmitry Rogachev
  • Vladimir Chekhonin, Vice President of the Russian Academy of Sciences, Head of the Department of Fundamental and Applied Neurobiology at the State Scientific Centre for Social and Forensic Psychiatry named after V.P. Serbsky
  • Igor Korobko, Professor of the Russian Academy of Sciences, Director of the Department of Science, Innovation and Bio-health Risk Management of the Ministry of Healthcare of the Russian Federation
  • Sergey Kutsev, Corresponding Member of the Russian Academy of Sciences, Director of the Research Centre for Medical Genetics, Chief External Expert in Medical Genetics of the Ministry of Healthcare of the Russian Federation
  • Dmitry Kudlay, Professor, Vice President of the introduction of new medical technologies of Generium JSC

Experts discussed personalised medicine issues, new approaches to genetic and regenerative medicine, and possibilities for neonatal screening.

Vice President of RAS Vladimir Chekhonin congratulated the conference participants on the Day of Russian Science, noting the trends of modern biomedical science: molecular genetics, molecular biology, bio information science.

In particular, Vladimir Chekhonin remarked: "These are the modern directions of science that form the possibility of creating scientific-biomedical platforms for the treatment of several socially significant diseases".

In turn, the director of the Research Centre for Medical Genetics, Chief Extrenal Expert in medical genetics of the Ministry of Healthcare of the Russian Federation, Sergey Kutsev, noted the importance and timeliness of the issues raised in the framework of the conference. These are dedicated to neonatal screening and innovative personalised approaches in medical genetics.

Sergei Kutsev focused on high-tech diagnostic methods and programmes that provide innovative treatments and introduce new medications resulting from severe years of work and basic research.

“Timely diagnostics of orphan diseases is one of the most important aspects. Often, the diagnosis of an orphan disease is a quest for a patient that can last for years. Therefore, mass screening is the most effective. Such a mass screening is neonatal screening, which includes an examination of absolutely all newborns for several hereditary diseases for which effective pathogenetic treatment exists», - said Sergey Kutsev.

Sergey Kutsev added: “The government of the Russian Federation has decided to expand screening from five to thirty-six diseases. In particular, screening by tandem mass spectrometry is introduced for twenty-nine conditions out of thirty-six. These are amino acid metabolic disorders, so-called organic aciduria and aliphatic acid oxidation disorder groups of diseases. This method makes it possible to identify more than a thousand newborns per year. And these are precisely those cases when the prescription of dietary therapy, specialised therapeutic food and medication allow avoiding disabling and death”.

Screening is always a high-risk group, and for these patients, it is necessary to conduct corroborating molecular-genetic research.

Screening for spinal muscular atrophy, a severe neurological disease that in most cases leads to death before age of two, is also being introduced. Sergei Kutsev noted that there are currently three pathogenetic preparations available in the Russian Federation. One of them is a gene-substitution medication.

“We understand that the effect of therapy will be significant when we can administer medications within the first month of a child’s life. In this sense, there is no alternative to neonatal screening”.

Screening is also administered for primary immunodeficiency, a variety of hereditary diseases that are accompanied by a violation of antibody production. These are severe lesions, which are often life-threatening and must be diagnosed in the first days of a child’s life.