Screening for spinal muscular atrophy (SMA) and primary immunodeficiencies will be carried out in the Republic of North Ossetia-Alania
An agreement on the joint implementation of a pilot project for screening for spinal muscular atrophy (SMA) and primary immunodeficiencies was concluded by the Research Centre for Medical Genetics and the Ministry of Health of the Republic of North Ossetia-Alania. The project will be implemented with the participation of specialists from the medical genetic consultation of the Republican Children's Clinical Hospital of North Ossetia-Alania.
Today, in most regions of Russia, mass neonatal screening is carried out only for 5 diseases: phenylketonuria, adrenogenital syndrome (adrenal cortex dysfunction), congenital hypothyroidism, galactosemia, and cystic fibrosis. To detect these severe diseases at the presymptomatic stage, blood is taken from the heel of all newborns on the fourth or seventh day after birth. Starting from May 2022, all newborns in North Ossetia will be additionally tested for SMA and primary immunodeficiencies by specialists of the Research Centre for Medical Genetics, the medical genetic consultation of the Republican Children's Clinical Hospital of the Republic of North Ossetia-Alania with the support of the Dmitry Rogachev National Research Center.
It is planned to examine more than 5,000 newborns in North Ossetia for SMA and primary immunodeficiencies in 2022. To date, the Research Centre for Medical Genetics has already received about 250 biomaterial samples for research.
- Every year, about 3,000 families consult specialists of the medical genetic service of the Republican Children's Clinical Hospital of North Ossetia-Alania. The pilot project is of great importance for the region, as it provides an opportunity to prepare for expanded screening for 36 hereditary diseases, which will start from 2023 throughout the Russian Federation. But most importantly, the pilot project makes it possible to provide timely assistance to patients. Early diagnosis and early treatment of orphan diseases are one of the priorities in the development of healthcare in the Republic of North Ossetia-Alania. In our region, there is a long-term experience of fruitful cooperation with the leading Russian institution of medical genetics - the Research Centre for Medical Genetics, - said Soslan Tebiev, Minister of Health of the Republic of North Ossetia-Alania.
A high-risk group will be formed during screening for SMA and primary immunodeficiencies. It will include children with a high probability of having the disease. They will be sent to specialized institutions to confirm the diagnosis. Specialists from the Research Centre for Medical Genetics work on detection of mutations in the SMN1 gene to confirm the diagnosis of spinal muscular atrophy. They determine the number of copies of the SMN2 gene, which is extremely important for prescribing therapy. Confirmatory diagnosis of primary immunodeficiencies will be carried out in regional centers, and in difficult cases, families will be sent to the the Dmitry Rogachev National Research Center.
The project of mass neonatal screening for SMA and primary immunodeficiencies is designed for 200,000 newborns and will cover at least 6 regions of Russia. Earlier, the Ryazan region, Vladimir region and Krasnodar territory have already joined the pilot project.
- Mass neonatal screening for 36 hereditary diseases will save up to 2,000 newborn lives each year, according to our estimates. Regulatory documents on expanded neonatal screening have already been developed, and now they are undergoing internal approval. We have identified interregional centers that will carry out neonatal screening, control the provision of medical care and medicines for identified patients. All this is included in the federal project approved by the Government, - said Sergey Voronin, chief physician of the Research Centre for Medical Genetics, deputy chief freelance specialist in medical genetics of the Ministry of Health of Russia, PhD in Medical Sciences.