Researchers and Medical Practitioners Discuss the Structure of the Future Genetic Diagnostics Center

The workgroup convened at the Institute of Fundamental Medicine and Biology. 

Tatarstan, as the participants noted, has for a long time been in need for such a center.

Head of the Molecular Diagnostics Lab of the Tatarstan Regional Clinical Cancer Center Marat Gordiev said, “From a genetic standpoint all conditions can be assigned to two groups. The first ones are those that cannot be diagnosed without genetics, such as monogenetic diseases or oncohematology. And then there are conditions where genetics play only a partial role that has not been studied yet. Our meeting aims to find these problematic spots in the diagnostics process in the Republic”.

It is proposed that the KFU-RIKEN lab should become the nucleus of such new center. It comprises two divisions – the University Clinic Diagnostics Lab and the fundamental research center for genome sequencing that is engaged in unique ethnic genetics research.

Oleg Gusev, the KFU-RIKEN Lab Head, noted, “Our Lab is equipped with new high-performance sequencers that can analyze large chunks of information, gene panels, full genomes, parts that are the sources of monogenetic diseases. When we are talking about translational research, we are implying that there is a hospital that provides specific services, and there are scientists that suggest some innovations and improvements. Ideally, diagnostics consists of taking a patient’s biological material, deciphering the necessary genes, analysis, and medical assessment. We as researchers are responsible for deciphering. Other steps are mostly the hospital’s area of responsibility. We have technical capabilities now, and further progress must be determined by clinicians and hospitals”. 

To this Georgy Cherepnyov, Head of the Immunology Lab of the University Clinic, added, «I think that these new genomics technologies at KFU can be beneficial not only for the University Clinic but also to the whole university community in the Republic and the Volga Federal District. Here today we have immunologists, hematologists, pediatricians, neurologists, cardiologists, lab diagnosticians, and transplant experts. I think the best course of action is if each specialist makes a brief summary of the state of genetic diagnostics in his area and names biological parameters that are the most important for him/her. Then we can assess if we are able to meet these demands at our lab and discuss patient logistics and financing».

The most popular areas in this regard, as followed from the discussion, are immunology, oncohematology, andrology, pharmacogenetics, and orphan diseases.

Dr. Cherepnyov went on, “Primary immunodeficiency is a very pertinent topic, all cases are sent to Moscow or Saint-Petersburg for diagnostics. There are genetic panels associated with primary immunodeficiency, about 300 of them. There is nothing that is currently done for oncohematology diagnostics in Tatarstan. Unfortunately, diagnostics in andrology is also not up to the task. Some cell tests are good, but genetic tests are lacking”.

The main obstacle to the creation of such center (aside from financing) is now the deficit of clinical geneticists who have to bear the biggest workload.

Deputy Chief Medical Officer of the University Clinic Irina Sidorova said about this, «We are now on the level where we basically have to push off the bottom. We have to find professionals that want to work and study very seriously. We must keep in mind that we can only educate clinical geneticists based on the already obtained medical degrees. This is the central question now».