The Ministry of Health spoke about the expansion of the newborn screening program

In the near future, a test for spinal muscular atrophy (SMA) will be added to the screening of newborns, Sergey Kutsev, chief specialist in medical genetics of the Ministry of Health, director of the Medical Genetic Research Center, academician of the Russian Academy of Sciences, told Izvestiya in an interview.

“We managed to convince the authorities that it is very important to start treatment in the first six weeks from birth, when the neurons have not yet died. This is an opportunity to save the life and development of children in accordance with their age,” he said.

The decision to expand newborn screening in Russia was made in 2021. Expanded screening will begin in 2023, with babies screened for 36 hereditary diseases. There is treatment for everyone, for most of them it is inexpensive, Sergey Kutsev explained.

“I think in the next stages we will talk about lysosomal storage diseases. There are diseases for which there is a treatment, the Circle of Kindness (a state non-budgetary fund for helping children with severe, including rare diseases – Ed.) Purchases drugs. We hope to get data that early initiation of therapy for these patients is also important, and then we will try to include them, ”said the geneticist.

According to him, in advanced countries, newborns are tested for about 50 diseases. It is also important how parents themselves relate to screening, the academician added.

“It is very important to understand that if something is revealed at the screening, but there are no clinical symptoms, the child still needs to be treated. The sooner, the better the effect will be. Here you need to trust the doctors. Unfortunately, there are cases when parents simply do not believe in this diagnosis, the stage of denial is delayed for many, ”said Kutsev.

Read more in an exclusive interview with Sergey Kutsev to Izvestia:

“Complete substitution of imported drugs for rare diseases is impossible”

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