New Issue of the Podcast on Research Methods and Organizational and Financial Issues In Onco-genetics

In the new release of the scientific and popular podcast «At the Gene Level» we will focus more on the methods of research and organizational and financial issues in onco-genetics.

Guests of the edition:

Victoria Musatova, PhD, head of the laboratory of molecular genetic diagnostics 2 of the Research Centre for Medical Genetics
Dmitry Mikhailenko, PhD, assistant professor, head of the department of onco-genetics of the Institute of Higher and Supplementary Professional Education at the Research Centre for Medical Genetics

To date, molecular genetic research in oncology is gradually being consolidated into clinical practice and immersed in the system of compulsory health insurance (CHI). However, a fairly large number of molecular genetic research remains outside the CHI and is carried out either at the expense of the Russian Society for Clinical Oncology (RUSSCO) or through sponsorship by pharmaceutical companies.

Dmitry Mikhailenko talked about the arsenal of modern research methods in onco-genetics, ranging from simple methods such as PCR to more high-performance ones such as the next generation sequencing method (NGS), explained hoe to choose a study, and also elaborated on the genetic tests in oncology in the CHI system.

“Over the last 2-3 years there have been positive changes in the availability of molecular genetic tests for patients nationwide. Currently, almost all of the most commonly prescribed genetic tests are the part of the CHI system, such as testing for mutations in BRCA1 and BRCA2 genes, examining both frequent and more rare mutations using highly productive sequencing, tests for mutations in tumors in the KRAS and NRAS genes for colorectal cancer, in the BRAF gene for colorectal cancer, melanoma and thyroid cancer, and many others”, - stressed Dmitry Mikhailenko.

According to the expert, each of these tests has a series of indications, those tumor localizations for which these studies are applied in the CHI system, there are recommended forms of conclusion. He also spoke about the role of reference centres in Russia, about what to date molecular genetic research are included in clinical recommendations abroad and in our country, noting that any diagnostic test must be performed according to the indications in the target population of patients.

“At the same time we understand that there is a cohort of patients for which other tests are needed, not yet included in the CHI system. For such cases, there is a RUSSCO programme, thanks to which patients have the opportunity to pass the necessary tests free of charge”, - said Dmitry Mikhailenko.

RUSSCO is a programme to improve molecular genetic diagnostics of oncological diseases, which is implemented by the Russian Society of Clinical Oncology and has been operating since 2012. The programme now covers almost all the regions of the Russian Federation and includes around 30 laboratories throughout the country.

“The task of a laboratory geneticist is qualitatively to determine the mutation, to issue a diagnostic report and to categorize this mutation, which is to indicate its pathogenicity, clinical significance and other parameters. On the basis of this information, an oncologist decides what to do with this conclusion”, - the expert explained.

Victoria Musatova discussed organizational issues, including logistics, biomaterial sampling rules, its types, the process of molecular genetic research, timing and quality control.

“The main role of the Research Centre for Medical Genetics is to conduct molecular genetic research for patients with hereditary and/or congenital diseases, including inherited oncological syndromes. In this case, a patient comes to see a geneticist at our Center, after which he is assigned appropriate research. A patient then submits his biological material, which is examined by the laboratory, and as a result, two reports are issued: to a patient himself and to the patient’s file. After that, a patient comes for a second visit to a geneticist, while the second consultation is covered by the state assignment”, - said Victoria Musatova.

She noted that quality control of molecular genetic research is a multi-stage process, as there are internal and external quality controls. Internal control is carried out by the laboratories themselves at the stages of molecular genetic research and consists in checking the quality of the isolated DNA, contamination of samples and adequacy of the analyzed biomaterial. External quality control in the laboratory of molecular genetic diagnostics 2 at RCMG is conducted every 2-3 years by the system of International quality control EMQN - European Molecular Genetics Quality Network.

The podcast addresses issues of the most promising directions of molecular genetic research not only in the Russian Federation but also in the world.

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