The Russian Federation has created a database of 100,000 genomes for the diagnosis of hereditary diseases

A large-scale database containing information on 100,000 genomes has been created in Russia, which opens up new opportunities for the diagnosis of hereditary diseases. This was stated on October 20 by Sergey Kutsev, Director of the N.P. Bochkov Medical and Genetic Research Center, chief freelance specialist in medical genetics at the Russian Ministry of Health, Academician of the Russian Academy of Sciences, at a press conference "Genome-wide research in Medicine."

The new database is particularly valuable due to its ethnic diversity — it includes the genomes of representatives of various peoples of Russia. As the academician explained, knowledge of the frequencies of genetic variants in a population is the foundation for accurate diagnosis.

Kutsev noted that genome-wide studies can significantly reduce the "diagnostic odyssey" of patients. When using the classical diagnostic approach, from simple to complex analyses, approximately 40% of diagnoses can be established using standard methods. At the same time, additional genome-wide examination makes it possible to diagnose from 15 to 20% more hereditary diseases.

"About 55-60% of cases of patients with suspected hereditary disease can be diagnosed using genome-wide research methods. That is, if we had used genome-wide studies right away, we would have immediately diagnosed 60%, and if we do everything possible for the patient and finally include genome-wide studies, then somewhere, it seems to me, 15-20% is for sure," Kutsev specified.

The creation of a database and the development of genome-wide studies opens up opportunities not only for the diagnosis, but also for the pathogenetic treatment of hereditary diseases, including gene replacement therapy and treatment using RNA molecules. In addition, accurate knowledge of the molecular cause of the disease makes it possible to prevent the re-birth of children with severe hereditary pathologies. As the specialist emphasized, work in this direction continues, since a database of at least 1 million genomes is needed for even more confident results.

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