Experts summed up the preliminary results of the medical part of the National Genetic Initiative "100,000 +Ya"

The project is being implemented by the Biotechnological Campus within the framework of the federal scientific and technical program for the development of genetic technologies, the technological partner of which is PJSC NK Rosneft. One of the key medical partners is the N.P. Bochkov Medical and Genetic Research Center. The project has compiled one of the largest databases of genome-wide data in Russia.

"Half of the database contains the genomes of healthy volunteers from various regions of the country. This population section of the database allows you to determine the frequency of genetic variants in a healthy population and allows you to cut off common variants that reflect the genetic diversity of Russians and have no medical significance. The other half of the database is medical. It stores the genomes of patients from various medical institutions and, in some cases, relatives of these patients," said Konstantin Severinov, Director General of the Biotechnology Campus, Scientific Director of the National Genetic Initiative 100,000 + Ya, PhD, Professor.

Genome-wide studies help to establish the diagnosis of a hereditary disease when other methods fail to identify the cause of the disease.

"Until now, genome-wide studies have been conducted in the world mainly for scientific purposes. Today, thanks to new opportunities and lower costs, they can become first-line tests, and in this case, about 60% of patients with suspected hereditary diseases can receive a diagnosis. This makes it possible to prescribe etiopathogenetic treatment to patients, and families also have the opportunity to prevent repeated cases of the disease," said Sergey Kutsev, director of the MGNC, chief freelance specialist in medical genetics at the Russian Ministry of Health.

MGNC specialists sent more than 20,000 samples within the framework of the National Genetic Initiative "100,000 +Ya". One third has already passed all the processing stages. Genome-wide studies, including in the "trio" format, allowed for the first time in Russia to establish a number of ultra-rare diagnoses, as well as to identify cases of a combination of hereditary diseases.