All-Russian Multimedia Conference «Orphanetics»
On December 14, 2022, the annual All-Russian multimedia conference «Orhanetics» was held in Moscow, devoted to the diagnostics and treatment of orphaned diseases.
The event was organized by the Association of medical geneticists and the Russian society of medical geneticists with the support of the Research Centre for Medical Genetics.
The event was attended by employees of RCMG, as well as genetics doctors, laboratory geneticists, neurologists, neonatologists, endocrinologists, specialists in the field of healthcare organization and public health.
The conference discussed the following issues:
- Regulatory framework for expanded neonatal screening 2023
- Organization of the first stage of neonatal screening: blood collection and information support
- Advanced neonatal screening: found and treated
- Neonatal screening problems
- Neonatal screening for congenital hypoplasia of the adrenal cortex and congenital hypothyroidism and much more
The opening of the conference began with a symposium “From a Pilot Project to an Expanded Federal Neonatal Screening. From Treatment after the Fact - to the Beginning of Therapy of Hereditary Disease to Clinical Manifestations”, moderated by Sergey Kutsev, academician of the Russian academy of sciences, Holder of an Advance Doctorate in Medical Sciences, Director of RCMG, president of the Association of medical geneticists of Russia, chief external expert in medical genetics of the Ministry of Healthcare of Russia, as well as Sergey Voronin, PhD, chief physician of RCMG.
«Early detection of hereditary diseases by neonatal screening allows to provide patients with timely assistance at the very early stage, thereby reducing infant mortality and improving the quality of life of patients with hereditary diseases»,- said Sergey Kutsev.
“The launch of expanded neonatal screening on January 1, 2023 is a very important and significant event that will bring the provision of medical assistance to orphaned patients in the Russian Federation to a new level. If previously the study was conducted on 5 hereditary diseases, from the beginning of 2023 will be investigated for 36 diseases. This is a huge achievement, to which we have been going for a long time”, - said Sergey Voronin.
Neonatal screening programmes are conducted in more than 30 countries worldwide. At the same time, the number of diseases and diagnostic methods have significant differences, related to both the medical and economic aspects of particular countries.
In his report the chief physician of RCMG stressed that due to the organization of neonatal screening, launched in 2006, the landscape of orphaned diseases has changed:
- achieved multiple reduction of mortality from the soluble forms of congenital dysfunction of the adrenal cortex
- life expectancy of cystic fibrosis patients has more than doubled
- the quality of life for all diseases has increased significantly
- there are practically no patients with a clinical course of phenylketonuria with mental retardation
- a real incidence of nosologies among the population has been established, up to 10 times higher in some entities, which has created the necessary framework for patient care
Thus, the goal of neonatal screening is not only to reduce infant mortality and improve the quality of life of at least 2,000 newborns with inherited and (or) congenital diseases every year, but also the ability to plan families and contribute to healthy children.
The results of the pilot project of screening of newborns for spinal muscular atrophy and primary immunodeficiency in RCMG was reported by the leading researcher of the genetic epidemiology laboratory at RCMG, Andrey Marahonov, who noted the need to develop optimal ways of routing patients, as well as the importance of consulting on the results of screening.
Within the section, Lyudmila Kuzenkova, professor, Head of the Centre for Child Psychoneurology, head of the department of psycho-neurology and psycho-somatic pathology at NMRC for Children’s Health of the Ministry of Healthcare of Russia, Holder of an Advanced Doctorate in Medical Sciences, who spoke about the application of gene replacement therapy at the pre-symptomatic stage in patients with SMA in modern conditions. She noted the importance of timely diagnostics, which helps to start the necessary therapy for hereditary diseases on time.