The Pilot Project of Mass Neonatal Screening on SMA and Primary Immunodeficiency Started in Bashkortostan

The organizer of the pilot project of mass neonatal screening on spinal muscular atrophy (SMA) and primary immunodeficiencies (PIDs) is the Research Centre for Medical Genetics (RCMG), the head institution of the Russian medical genetic service. 

The agreement on pilot project signed between RCMG and the Ministry of Healthcare of Bashkortostan Republic. The screening will be carried out on the basis of SBIH «The Republican Medical Genetic Centre» in Ufa, which was opened by the order of the Government of the Republic in 2018. Today, it is one of the leading medical genetic institutions in the Russian Federation. 

At present, in the most regions of Russia the mass neonatal screening is carried out only for 5 hereditary diseases: phenylketonuria, adrenogenital syndrome (adrenal cortex dysfunction), congenital hypothyroidism, galactosemia and cystic fibrosis. In order to detect these severe diseases in the pre-symptomatic stage, newborns are given blood from a heel in the first days after birth. Now all newborns of the Republic of Bashkortostan will be additionally checked for SMA and PIDs. To diagnose accurately before the first symptoms appear is essential for successful treatment. Medications will be available to patients due to the Charity Fund «The Circle of Well».

A risk group is formed during the mass neonatal screening - a list of newborns with suspicion of disease, then a confirmatory diagnostics is carried out.  RCMG is not only the organizer of the pilot screening project. The Centre also provides diagnostics of spinal muscular atrophy. To diagnose SMA, mutations in the SMN1 gene are detected, as well as the number of copies of the SMN2 gene, which is essential for the selection and the initiation of therapy on time. Confirmatory diagnostics of primary immunodeficiencies is carried out on the basis of regional medical institutions or in the National Medical Research Centre for Paediatric Hematology, Oncology and Immunology named after Dmitry Rogachev. Subsequent research into changes in genes and chromosomes leading to a disease is carried out at RCMG. 

Sergey Voronin, chief physician of the Research Centre for Medical Genetics, Deputy chief expert in medical genetics of the Ministry of Healthcare of the Russian Federation, Ph.D., said: «Bashkortostan Republic became the eighth region to join the pilot project. It had previously been launched in Ryazan, Vladimir, Orenburg, Sverdlovskaya Oblasts, Krasnodar Krai, the Chechen Republic and the Republic of North Ossetia-Alania. To date, more than 108,000 studies have been carried out at RCMG. The diagnosis of spinal muscular atrophy was confirmed in 15 newborns before the first symptoms appeared».

Airat Rakhmatullin, minister of Healthcare of the Republic of Bashkortostan, said: «This project is important and necessary for our large region, where more than 35 thousand children are born every year. In such a genetic disease as SMA we must act in advance, because the disease develops quickly, gradually atrophying the muscles of a patient. There are 42 children with the SMA in our region now who receive the necessary medications from the Charity Fund «The Circle of Well» and are under the guidance of specialists of the Republican Hospital for Children». 

At present, the process of analyses on SMA in all pilot regions is fully regulated in RCMG.