The data of tens of thousands of Russians is included in the national DNA “library”

Why does Russia have its own genomic library?

Of course, there is nothing supernova here. The human genome was 99.9 percent completely deciphered in the early 2000s. The genomic libraries of the largest scientific centers abroad have collected millions of DNA samples from a wide variety of people. But, according to the director of the Department of Scientific and Technical Development and Innovation of Rosneft Oil Company Alexander Pashali, the goal of the new Russian project differs from those abroad. It is to collect, decipher and systematize the genomes of the inhabitants of our country. By the way, according to the results of last year, the project has already collected 25 thousand (!) genetic records.

“It’s important that we don’t just do import substitution,” says Pashaly. – It is important for us to create a national library of data on residents of various regions of Russia. Yes, by and large, the DNA of all people inhabiting the globe is similar. But different ethnic groups have characteristics that are determined by medical factors. Therefore, you need to have your own base, draw your own conclusions and discoveries, but also have the opportunity to test the findings of foreign scientists.”

According to the head of the department, collecting a Big Data database on the genomes of different people is not an end in itself. “The database itself will not cure anyone, and therefore, after the collection, the second stage of the program will begin, related to the bioinformation processing of the received data.

There are hereditary diseases that are passed on from generation to generation. They need to be known, diagnosed and treated on time. All the necessary information is contained in the DNA molecule. By the way, in addition to hereditary diseases, information about the color of eyes, hair, height, even some character traits and physical abilities is also “hidden” there.

The project is headed by one of the world’s leading scientists in the field of molecular biology, Doctor of Biological Sciences, Professor Konstantin Severinov.

How oil workers measured DNA

The project specialists already have a complete base for work. This is the Center for Genomic Research on the technology campus. The premises of the Institute of Bioorganic Chemistry named after. Academicians M.M. Shemyakin and Yu.A. Ovchinnikov RAS.

The total area of ​​the Center is more than 1000 square meters. The infrastructure includes laboratory facilities, a data processing and storage center, modern engineering systems, a lecture hall, office space and a comfortable recreation area for employees.

All information of the Center is stored on servers located in Russia. The results of the analysis of blood samples from patients with specific diseases will make it possible in the future to identify genetic markers that affect the health of newborns, children, adults and the elderly, as well as to develop criteria for an objective assessment of biological age.

− What do you think is the length of a DNA molecule? – Alexander Pashali asks the assembled journalists a question. It turns out that no one really knows…

“If you unwind the entire chain, you will get a thread 2 meters long,” he answers. – And if all the DNA molecules that are in a person are lined up one after another, you will get a structure several times longer than the distance from the Earth to the Sun!

A geneticist is nowhere without a lawyer.

From a small popular science digression we move on to a more prosaic one. It turns out that oil workers’ participation in the program is not only related to scientific research.

The task of an oil company includes a lot of things, starting with personnel training. “We must push science, popularize it in society in order to motivate children and teenagers to go into this field,” says Alexander Andreevich. – For example, five years ago a master’s program “Genomics and Human Health” was opened at the Faculty of Biology of Lomonosov Moscow State University. They accept bachelors not only with a biological education, but in genetics they need representatives of a wide range of specialties.”

According to the speaker, the organizers of the program are now delving into everything: the creation of new samples of domestic sequencers, and the production of reagents.

We didn’t expect it ourselves, but we realized that we would even have to engage in rule-making in connection with the DNA research of Russians. What did you think?! All actions related to science, especially biological science, require permits and approvals.

Donate blood – get a portrait… genetic

By the way, realizing that people are not yet very willing to donate blood (they only need 4 milliliters), the oil company started… with itself.

According to Pashaly, the company invited all of its 300 thousand employees and their relatives, who represent almost all regions of our large country, to participate in the genetic initiative “100,000+Me” as volunteers.

“We liked the first results,” says the head of the department, “people were enthusiastic about the undertaking because they understand what a contribution to science it can make. The position has been formed that 70% of the genomes should be obtained at the expense of the company’s employees, and the remaining 30% at the expense of medical partners, or rather their patients who require urgent sequencing to save their lives.

We urgently decipher their genomes; we even managed to find the genetic prerequisites for the disease in a few days. Unfortunately, it was not always possible to save or improve the condition of patients, but we are sure that doctors will find the information useful in the future. By the way, during the first year of work, our luggage included 11 finds of genes that are considered unique. All of them are related to the health status of patients.”

Genome decoding for insurance

The initiators of the collection of genetic data are confident that in the future, thanks to their work, genomic sequencing, which currently costs from 100 thousand to 200 thousand rubles, will become free for Russians, covered by medical insurance. And in an even more distant future, it is planned to create gene therapy methods and drugs for more targeted care for patients.

Representative of the Center for Whole Genetic Sequencing Alina Demkina spoke about how geneticists work in practice at the Center.

“We receive blood samples from all over the country. People, as already mentioned, donate 4 milliliters of venous blood, it is placed in special tubes with a substance that prevents clotting, and sent to Moscow, says Demkina. – This biological material must reach us within 4 days from the moment of collection; we will no longer accept it later. We register the arriving blood in the system, assigning a number with a barcode. We also collect all the necessary documentation, because our volunteers sign consent documents for the processing of their data.”

By the way, according to Alina Demkina, after completing the research, which takes place on one of the 20 most powerful supercomputers (it has 2500 (!) processor cores) in Russia, project volunteers will receive a pleasant bonus. About a month after donating blood, they receive a “genetic portrait.” Do not confuse this with a genetic passport. “Portrait” does not contain medical information – only data on the type of physical development of a person, recommendations for especially useful food products and vitamins. To date, about 14 thousand people have already received their genetic portraits.

The center cares about protecting the data of program participants, so the results of analyzes and research are anonymized. Personal data that will allow one to associate a genome with a specific person is not available to casual users. The genomic data storage system contains a volume of 60 petabytes, which in physical volume is comparable to the library collection of 64.5 billion books.