The Genetico Center (CGRM, MOEX: GECO) conducted a survey on the use of the genetic variant database - RUSeq among medical professionals.
RUSeq is the first Russian open database of genetic variants (polymorphisms, mutations) and their occurrence in the Russian population. The database was created by the Genetico Center and the Serbalab laboratory. The work was carried out in collaboration with the Institute of Bioinformatics.
Doctors (45% of respondents), laboratory specialists (15%), bioinformaticians (9%), and researchers (31%) took part in the Genetico Center survey. 60% of respondents know about the existence of the RUSeq database, and 45% of respondents use the database in their practice now. Survey participants primarily use the database to determine the frequency of rare mutations in the population and to make diagnoses. When asked about plans to use the RUSeq database in their practice in the future, 81% of respondents answered positively.
The RUSeq database is based on statistical processing of the results of sequencing (decoding) more than 6,000 human DNA samples and contains a list of all genetic variants found in people included in the sample, and information about how many people were identified with this or that variant. The database included more than 500,000 new (previously not described) variants. However, the genetic information of separate individuals is not available in the database. Currently, laboratories continue to work on sequencing new samples and expanding the RUSeq database.
According to experts at the Genetico Center, such databases are of great value to researchers in various fields of biology and medicine. The presence of such databases is especially important for the correct interpretation of DNA sequencing results for medical purposes: in order to search for possible causes of hereditary diseases in patients and when making a diagnosis. Given that hereditary diseases are relatively rare in the population, it is important to be able to distinguish rare genetic variants from frequently occurring ones; population frequency serves as one of the criteria for the pathogenicity (ability to cause disease) of variants.
The Genetico Center (CGRM, MOEX: GECO) is a company of the Artgen Biotech group (ex. HSCI, MOEX: ABIO), resident of Skolkovo, resident of Medtech Technopark. Genetico works in the field of medical genetics and genetic research, introducing innovative solutions into healthcare practice for the diagnosis, prevention and treatment of genetic and socially significant diseases. On April 25, 2023, Genetico conducted an IPO on the Moscow Exchange. Genetico shares are included in the list of securities of the high-tech economy sector.