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A Pilot Project for Neonatal Screening on Spinal Muscular Atrophy (SMA) and Primary Immunodeficiency (PID) Was Launched in Krasnodar Krai

Today, mass neonatal screening is carried out only for 5 hereditary diseases in the most of Russian regions: phenylketonuria, adreno-genital syndrome (adrenal cortex dysfunction), congenital hypothyroidism, galactosemia and cystic fibrosis. In order to detect these severe diseases in the pre-symptomatic stage we take blood from all newborns’ heels on the fourth or the seventh day after birth. Now all newborns of Krasnodar Krai will be additionally tested for spinal muscular atrophy (SMA) and primary immunodeficiency (PID). Establishing an accurate diagnosis before the first symptoms appear is essential for successful treatment. Without mass neonatal screening, the diagnosis can only be established in the most cases after the disease has manifested, meaning that irreversible changes have already occurred in the body in the most cases. 

The pilot project will be implemented on the basis of the Kuban Inter-regional Medical Genetic Counselling (KIRMGC) with the support of the Research Centre for Medical Genetics (RCMG) and the National Medical Research Centre for Paediatric Haematology, Oncology and Immunology named after Dmitry Rogachev. 

Kuban Inter-regional Medical Genetic Counselling (KIRMGC) is one of the best members of the Russian medical genetic service. Experts see more than 10,000 families of patients with hereditary diseases every year to clarify the diagnosis, treatment as well as advise on infertility, pregnancy failure and family planning. KIRMGC has managed to establish a staff of highly qualified specialists in the context of the country-wide shortage of personnel in the medical genetic service: geneticists who see patients; laboratory geneticists who conduct high-tech genetic research; ultrasound doctors; obstetrician-gynaecologists. An endocrinologist, a psychologist and neurologist within KIRMGC also assist patients with hereditary pathology. Participation in the project of expanded neonatal screening brings the region to an even higher level of medical genetics technologies development and forms the basis for the creation of one out of nine centres for mass neonatal screening in Russia», - said Evgeny Filippov, Minister of Healthcare of the Krasnodar Krai. 

Screening for SMA and primary immunodeficiency will result in a group of children with high risk - children with a high probability of disease. They will be sent to the relevant institutions for confirmation diagnostics. In RCMG, to diagnose the spinal muscular atrophy we will detect mutations in the SMN1 gene as well as determine the number of copies of the SMN2 gene, which is essential for the timely initiation of therapy. Confirmation diagnostics of primary immunodeficiency will be carried out in regional centres, but in complicated cases families will be sent to the NMRC for Paediatric Haematology, Oncology and Immunology named after Dmitry Rogachev. 

More than 13,000 samples of biomaterial from newborns have already been received in RCMG from Krasnodar Krai. 

Sergey Voronin, Chief Doctor of the Research Centre for Medical Genetics, Deputy Chief Expert in medical genetics of the Ministry of Healthcare of Russia, 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 have also been identified to carry out neonatal screening in their territories, to monitor the provision of medical assistance to identified patients and the accessibility of medications. This is all laid down in the federal project approved by the Government”. 

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 project is designed for 200,000 newborns and will cover at least 6 regions of Russia. 

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 the financial support of companies Scopinpharm LLC and Novartis Pharma LLC. As a 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.