Experts discussed opportunities to increase the availability of genetic testing

On December 4, the All-Russian Society for Rare (Orphan) Diseases (VOOZ) organized a discussion with leading experts in genetics, bioethics and medicine on the importance of the availability of genetic testing as a means for early diagnosis of rare diseases at the Izvestia Media Center.

Irina Myasnikova, Chair of the OIE Board of Directors, emphasized the need to make genetic testing more accessible to all categories of patients who need it in order to gain access to therapy.

Alexander Polyakov, Doctor of Biological Sciences, Professor, Corresponding Member of the Russian Academy of Sciences, Head of the Laboratory of the FGBNU MGNTs named after Academician N.P. Bochkov praised the availability of many types of molecular diagnostics for citizens. "Our center has more than 30 diagnostic programs and their number is growing because therapies for new rare diseases are emerging. To undergo molecular genetic or special biochemical tests will require only a referral from a doctor and completed voluntary informed consents. As for neonatal screening, it can be expanded to include new diseases that have unambiguous DNA markers and for which there is a treatment," he said.

Genetic testing at the expense of the federal budget for patients and their families in outpatient and inpatient settings is also available at the Tomsk Research Institute of Medical Genetics. According to Larisa Minaycheva, MD, Deputy Chief Physician, the Institute also provides prenatal and preimplantation diagnostics for monogenic diseases for families with a high risk of giving birth to a child with a hereditary disease.

Tatyana Strokova, Doctor of Medical Sciences, Head of the Department of FGBUN "FIC Nutrition and Biotechnology", Professor of the Russian Academy of Sciences noted the need to include biochemical studies in the system of routine check-ups of children, including for the diagnosis of rare diseases with liver damage.

Vera Izhevskaya, Doctor of Medical Sciences, Associate Professor, Deputy Director for Research at the Bochkov Moscow State Research Center, Chairman of the Russian Society of Medical Geneticists, spoke about the possibilities of testing couples for carriage of rare diseases. So far, their implementation has been hampered by the lack of funding and regulatory framework.

Further development of genetic testing as a whole requires restructuring of the healthcare system, Vera Izhevskaya believes. If hereditary diseases are detected, patients will need a system of assistance, and not only medical. People will need to learn to live with their diagnosis - they need adequate psychological and social support.

"Genetic technologies have revolutionized and we need a reform of the medical education system, the ability to ensure an ethical approach when using the results of genetic testing, raising awareness of doctors about the possibilities of genetic research to reduce the so-called diagnostic odyssey, which for some patients lasts for several years", - summarized Ekaterina Zakharova, Dr. M.Sc., Professor, Head of the Laboratory of Hereditary Diseases of Metabolism of FGBNU MGNTs named after Academician N. P. Bochkov, Chairman of the e