Mass neonatal screening for SMA and primary immunodeficiencies started in Yekaterinburg
The organizer of the pilot project is the Research Centre for Medical Genetics, head institution of the Medical Genetic Service of Russia.
Today, in most regions, mass neonatal screening is carried out only for 5 hereditary 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. Now all newborns in the Sverdlovsk region will be additionally tested for spinal muscular atrophy (SMA) and primary immunodeficiencies (PIDs). Establishing an accurate diagnosis before the first symptoms appear is essential for successful treatment. Without mass neonatal screening, in most cases, the diagnosis can be made only after the disease has manifested itself, which means that in most cases irreversible changes have already occurred in the body.
The pilot project will be implemented on the basis of the Clinical Diagnostic Center for Maternal and Child Health with the support of the Research Centre for Medical Genetics and Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology and Immunology.
“Ekaterinburg is one of the few regions in Russia that has experience in expanded neonatal screening for hereditary metabolic diseases. In a short period of time, the specialists of the Center for Maternal and Child Health performed about 150,000 studies and identified 10 patients at the presymptomatic stage. The implementation of the pilot screening project for SMA and primary immunodeficiencies in this region will allow timely and effective diagnosis and treatment using new generation drugs,” said Andrey Karlov, Minister of Healthcare of the Sverdlovsk Region.
A risk group will be formed during screening for SMA and primary immunodeficiencies. This group will include children with high probability of having the disease. They will be sent to specialized institutions for confirmatory diagnosis. To establish the diagnosis of spinal muscular atrophy, the specialists of the Research Centre for Medical Genetics will detect mutations in the SMN1 gene and determine the number of copies of the SMN2 gene, which is extremely important for the timely initiation of therapy. Confirmatory diagnostics of primary immunodeficiencies will be carried out in regional centers. In difficult cases, families will be referred to the Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology and Immunology.
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, 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”.
The Research Centre for Medical Genetics has already conducted research on more than 35,000 samples that came from the regions that joined the pilot project. Spinal muscular atrophy was diagnosed in 8 newborns. New samples arrive at the Research Centre for Medical Genetics weekly.