Personalized medicine and digital double: the newest developments of Russian genetics


Diagnostics, methods of treatment and prevention of coronavirus infection have become the main themes of the annual scientific conference on laboratory medicine. It passes these days in Moscow. Scientists from all regions of the country brought their newest developments to the capital. Emphasis is made on genetic studies.

Each year, the chief organizer and inspirer of the International Conference of Laboratory Medicine Mikhail Podkov is looking for a way to provoke a discussion. This time it uses a new phrase for many participants: a digital double.

"All digital cards, all analyzes are already all in the system. And it is already beginning to treat a digital image, the treatment is appointed based on the knowledge that gives a large analytics. This is a personalized medicine," says President Laboratory Medicine Federation, D.M. , Head of the Department of Clinical Laboratory Diagnostics of the  FSBEI FPE RMACPE MOH Russia Mikhail Podkov.

The first who supported this thought were young scientists from Kazan. These are their express-PCR laboratories test for Covid for 30 minutes at all airports in Russia and several abroad. A huge data array for medical analysts. And the principle of the express test is broad prospects.

"Express testing can be applicable to the diagnosis of AIDS, hepatitis, and most importantly - in-community infections. What is very important in the face of growing multiple presence. We are proud that the technology is fully manufactured in Russia," emphasizes the business director of the company EMG Maria Chumakova.

Revolutionary changes in the field of prenatal testing. The company "EVOGEN", together with the Moscow Healthcare Department, implements a project to identify hereditary genetic diseases. High sensitivity and specificity of NIPT test make it possible to determine not only frequent pathologies, for example, Down syndrome with an accuracy of 99%, but also other chromosomal anomalies that are not visible on the ultrasound.

"It is quickly and absolutely safe for the mother and for the fetus. Blood is taken from veins, and after three weeks you can get the result," says Associate Professor of the Department of Medical Genetics Rhmpo, Ph.D., Medical Director of Evogen LLC Elena Baranova.

Analyzed without a small 13,000 blood samples of pregnant women. NIPT is widely offered throughout the world by commercial organizations, and in Russia it is absolutely free, as well as the recognition procedure for signs of hereditary cancer.

"Complete genomic sequencing is performed. All DNA has been read to identify rare mutations. These are quite complicated research," explains the head of the Scientific and Medical Department of Evogen LLC, Ph.D. Olesya Sagaydak.

From 5 to 10 percent of malignant neoplasms are inherited. All the attention of the company "Evogen", implementing the program of early screening, is aimed at relatives of patients who do not know what they are waiting for them. They are in the risk group. The project involves the leading oncological centers of the capital. Following Moscow, its implementation is planned in the regions.

"The frequency of hereditary cancer syndromes is not known. Systematically this work has never been carried out, and it is simply necessary," the head of the Moscow Oncology Hospital No. 62 Nikita Savelov is confident.

Modern laboratory medicine is such a look from the test tube at the junction of chemistry, bioengineering, physics and IT technologies. It opens up huge opportunities medicine, and this is absolutely new knowledge.


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