Research Centre for Medical Genetics
1 Moskvorechye St,
Moscow 115522, Russian Federation
Mo-Fr: 9:00 - 17:00

Mass Neonatal Screening for Spinal Muscular Atrophy and Primary Immunodeficiency Pilot Project Started

The first regions to join the pilot project «Mass Neonatal Screening for Spinal Muscular Atrophy (SMA) and Primary Immunodeficiency (PID)» were Vladimir and Ryazan Oblasts. The Research Centre for Medical Genetics (RCMG) has already received more than 4,500 samples for research. 

At the moment, mass neonatal screening is carried out for only 5 diseases in the most regions of Russia: phenylketonuria, adrenogenital syndrome (adrenal cortex dysfunction), congenital hypothyroidism, galactosemia and cystic fibrosis. In order to detect these severe diseases in the pre-symptomatic stage we get blood from every newborn’s heel on the fourth or the seventh day after birth. 

All newborns of Vladimir and Ryazan Oblasts will be additionally tested for SMA and primary immunodeficiency from April 2022. Establishing an accurate diagnosis before the first symptoms appear is essential for successful treatment. Without mass neonatal screening, in most cases the diagnosis can only be established after the disease has manifested, meaning that the organism has already undergone irreversible changes. 

Screening for SMA and primary immunodeficiency will result in a high-risk group of patients - children with a high probability of disease after examination. They will be sent to the relevant institutions for confirmation diagnostics. RCMG detects mutations in the SMN1 gene to establish spinal muscle atrophy and also determines the number of copies of the SMN2 gene, which is essential for prescribing therapy. Confirmation diagnostics of primary immunodeficiency will be carried out in regional centres, and in complicated cases families will sent to the NMRC for Paediatric Haematology, Oncology and Immunology named after Dmitry Rogachev. The project of mass neonatal screening for SMA and primary immunodeficiency is designed for 200,000 newborns, it will cover six regions of Russia. 

Rena Zinchenko, Deputy Director for Scientific and Clinical Work of the Research Centre for Medical Genetics, Professor, Honored Science Worker of the Russian Federation said: “The pilot project will prepare the entire medical-genetic service of Russia for the launch of expanded mass neonatal screening for additional thirty one hereditary diseases as of 2023. During the pilot project the system of sampling and delivery of biomaterial from the regions to the centres of extended screening will be worked out, techniques of primary research will be worked out, routing for confirmation diagnostics of detected diseases, also drug prescription schemes, control of treatment for patients with hereditary diseases will be worked out. This pilot project will enable the launch of mass screening in 2023 in the shortest possible time and with maximum efficiency”. 

Sergey Voronin, Chief Doctor of the Research Centre for Medical Genetics, Deputy Chief Expert in Medical Genetics of the Ministry of Healthcare of the Russian Federation, PhD, said: “Mass neonatal screening for 36 hereditary diseases, we estimate, will save up to 2,000 newborns per year. Regulatory documents for expanded neonatal screening have already been developed and are now undergoing internal coordination. Inter-regional centres to carry out neonatal screening in their territories, to monitor the provision of medical assistance to identified patients and the accessibility of medicines have also been identified. This is all laid down in the federal project approved by the Government”. 
About the Mass Neonatal Screening Project 

The pilot project «Mass Neonatal Screening for Spinal Muscular Atrophy and Primary Immunodeficiency» is implemented by the Research Centre for Medical Genetics with financial support of companies Scopinpharm LLC and Novartis Pharma LLC. 

As part of the project, more than 200,000 newborns in six regions of Russia will be examined for SMA and genetic variations of PID: severe combined immunodeficiency and X-coupled agammaglobulinemia.