Results of Scientific and Practical Conference «New Technologies in Diagnostics and Treatment of Hereditary Diseases»
On December 7-8, 2022, Moscow hosted a scientific and practical conference that brought together medical specialists from various fields: obstetrics and gynaecology, genetics and laboratory genetics, clinical laboratory diagnostics, neonatology, paediatrics and others.
The conference was attended by more than 1,200 experts from 11 countries and 82 regions of the Russian Federation, 64 speakers and 44 reports.
The purpose of the conference is to exchange experience and raise awareness of specialists on basic and applied research in the field of medical genetics, as well as to strengthen cooperation between institutions of science, higher education and healthcare system, professional contacts of scientists and doctors.
The conference was supported by the Ministry of Healthcare of the Russian Federation, the Ministry of Science and Higher Education of the Russian Federation and the Russian Academy of Sciences.
The event was organized by:
- Ministry of Healthcare of the Russian Federation
- Russian Society of Medical Genetics
- Research Centre for Medical Genetics
The conference was opened by Sergey Kutsev, the Director of the Research Centre for Medical Genetics, chief external expert in medical genetics of the Ministry of Healthcare of Russia, academician of the Russian academy of sciences, and Vera Izhevskaya, the Deputy Director for scientific work of the Research Centre for Medical Genetics, chairman of the Russian society of medical genetics.
«Successful work of the medical genetic service is possible when interacting with specialists of different profile, because patients fall into the field of attention of geneticists first, and then they are sent for treatment to the specialized doctors», - said Sergey Kutsev.
“Currently, one of the most important technologies in the diagnostics and treatment of hereditary diseases is the introduction of expanded neonatal screening of newborns since 2023, which is preparing not only medical and genetic services, but also doctors of various specialties, including neonatologists, neurologists, immunologists, paediatricians”, - said Vera Izhevskaya.
Vera Izhevskaya noted that it is also important to discuss the problems of neonatal screening, which include organizational, legal and clinical issues, in order to start treating patients in a timely manner.
Within the section «Laboratory Technologies of Neonatal Screening» his report, devoted to the methodological aspects of the interpretation of the results of screening for primary immunodeficiency states, gave Andrey Marakhonov, the leading researcher of the genetic epidemiology laboratory at RCMG. He presented the existing approaches to treatment of children with primary immunodeficiency syndrome (PIDS), the main goals and objectives of the pilot project of neonatal screening, laboratory technologies of neonatal screening.
In order to choose a treatment option, it is necessary to have a precise clinical genetic diagnosis, in this matter the neonatal screening plays an important role, since early diagnosis means early treatment and the best results of therapy. The work should be carried out in close cooperation with both the primary healthcare level and federal immunological centres to increase the effectiveness of the screening activities», - said Andrey Marakhonov.
The report on the preliminary results of the pilot project of screening of newborns for spinal muscular atrophy (SMA) was made by Irina Efimova, the laboratory geneticist at RCMG. In her report, she talked about a pilot project on SMA and PIDS, which started in Russia in 2022 and covered 8 regions of the country, its tasks, stages and features of the clinical flow in the cases.
«The importance of the pilot project before the initiation of the screening of newborns at the national level lies in the possibility to work out the method in practice, identify weaknesses and difficulties in its implementation», - said Irina Efimova.
As a part of the symposium «Neonatal Screening: Lessons and Prospects» on the treatment of phenylketonuria told Natalia Semenova, PhD, senior researcher of the scientific advisory department at RCMG.
The topics of the conference «New Technologies in Diagnostics and Treatment of Hereditary Diseases» were:
- Early diagnostics of hereditary diseases
- Neonatal screening
- Hereditary diseases of metabolism
- Mitochondrial diseases
- Hereditary neurological and neuromuscular diseases for targeted therapy, control the effectiveness of treatment
- Cytogenetic and molecular cytogenetic technologies
- Genetic technologies in reproductive medicine
- Pre-implantation and prenatal diagnostics
- Genetic screening programmes
- Technologies for diagnostics of hereditary diseases
For more information: https://cabinet.romgconference.ru/public/files/events/14/1403/report_romg2022_dec.pdf