Research Centre for Medical Genetics
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The results of the VI Orphanica National Conference with international participation

Russia will add to the mass neonatal screening from 2022 onwards. As for Moscow and Primorsky Krai, they have been implementing their own programs. Experts attending the VI Orphanica National Conference with International Participation have discussed the results of such projects and identified problems that specialists may encounter in their future work. In Moscow, the advanced neonatal screening has been provided since 2018. In addition to the nosologies included in the federal list, the newborns were examined for type 1 tyrosinemia, type 1 glutaric aciduria, leucinosis (maple syrup disease), biotinidase deficiency, medium-chain acyl-CoA fatty acid dehydrogenase deficiency, and methylmalonic aciduria. “Each disease in this list has been detected at least once since the start of the program,” Natalia Pechatnikova, Head of the Center for Orphan and Other Rare Diseases of Morozovskaya Children's Clinical Hospital under the Moscow Healthcare Department, said.

The experts noted during plenary session that it was necessary to address the issue of diagnostic timing. Today, blood is taken from newborns on the 3 - 4 days of life, but some hereditary diseases can manifest themselves in the first day, and the patient requires immediate medical care. Therefore, blood sampling for advanced neonatal screening should be performed on the 2-3 day.

 “Early detection of metabolic disease significantly reduces the risk of metabolic crises and the degree of disability - we see it in our patients. Another important task for the near future is to develop clinical guidelines for a number of hereditary metabolic diseases. A significant obstacle to further expansion of neonatal screening is the lack of drugs and therapeutic foods registered in Russia, as well as problems with the availability of those already registered,” Natalia Pechatnikova said

Natalia Pechatnikova emphasized that mass screening for hereditary metabolic diseases could not cancel or replace selective screening.

Sergey Kutsev, Director of the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics, Chief External Expert in medical genetics of the Russian Ministry of Health, noted that many special medical foods are now at the registration stage. The Circle of Kindness Foundation will deal with the drug provision, and as for clinical guidelines for several diseases they should be developed and adopted in the near future.

According to RCMG, neonatal screening for 36 diseases will save about 2,000 children annually. At the same time, the cost of early diagnosis and treatment at the pre-symptomatic stage is significantly lower than the budgetary cost of further maintenance of patients with disabilities.

Professor Andrei Prodeus, Doctor of medical science, Chief pediatrician of Speransky Children's Clinical Hospital No. 9, Chief external pediatric allergologist and immunologist of the Moscow Region Ministry of Health, shared the foreign experience of early detection of primary immunodeficiency.

 “In France, when introducing screening for combined primary immunodeficiency, 62 patients with a confirmed diagnosis were found among 190,000 newborns. At the same time, the country's budget saved almost 53,000 euros per patient over 18 months for follow-up treatment. The total budget savings amounted to about 3 million euros. The Dutch studies also showed the financial efficiency of early detection of primary immunodeficiency disease - the average savings per patient’s one year of life were about 33,000 euros. This testifies to the advisability of screening,” Andrei Prodeus said.

Staff shortage is one of the today’s most difficult problems. The Medical Genetics Service of Russia employs no more than 350 geneticists. At the same time, the regional distribution of specialists is uneven - the Krasnodar Krai medical genetic consultation includes 120 employees, while Arkhangelsk has one geneticist. The advanced screening will result in the increased patients’ detection, which will intensify the specialists’ workload, including the burden of providing psychological assistance. It is a geneticist who informs the family of the diagnosis, gives advice on further actions, refers to other doctors, treats a number of hereditary metabolic diseases, and provides psychological support.

Andrei Prodeus noted that the pilot projects for early detection of primary immunodeficiency, convinced immunologists that it was very important to provide psychological help to the family. “We can say that about 10% of parents reacted aggressively to the diagnosis. We have to find an approach to everyone. I do not see any technical problem in implementation of the advanced screening program; I see possible problems in the lack of personnel”.

The Conference raised the issue of confirmatory diagnostics financing. Mass neonatal screening is based on biochemical markers using tandem mass spectrometry methods, but if the disease is detected, molecular confirmation is required. It is expected that the load on federal centers, where DNA-diagnostics is performed, will increase.

Sergey Kutsev, Director of the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics, Chief External Expert in medical genetics of the Russian Ministry of Health, stated that RCMG would take over confirmatory diagnostics.

“RCMG will undertake confirmatory diagnostics of diseases identified during the advanced neonatal screening. RCMG is able to do it as part of the state assignment and at the expense of their own extra budgetary funds. However, we expect that in the future we will be able to transfer the confirmatory diagnostics to the inter-regional centers, which will be evolving as the neonatal screening develops,” Sergey Kutsev said.

Sergey Kutsev emphasized that diagnosis should remain free for families.