All newborns in Russia from the new year will be examined under the expanded state screening program. Children will be tested for 36 genetic diseases. Previously, studies could only identify five pathologies. But the sooner a problem is discovered, the greater the chance of a cure. Izvestia correspondent Anna Voropai will talk about how genetic failures are corrected.

There is a problem? To the doctor!

Varia’s terrible diagnosis – spinal muscular atrophy (SMA) – parents learned in the first month of the child’s life. And after a few weeks, they received a life-saving medicine – a drug that restores the damaged gene. The main thing is that everything happened so quickly that the disease did not even have time to develop.

“In fact, this is a big one – it’s hard to say luck, this is a very fortunate combination of circumstances, the competent work of medical workers,” the girl’s mother noticed.

Newborn screening for SMA saved the lives of Varya and 15 other children. So much was revealed thanks to the pilot project of the Medical Genetic Research Center named after academician Bochkov. The project is only part of the preparation of the expanded neonatal screening program. Now in the maternity hospital, blood is taken from the child for five genetic diseases. And from the new year, the so-called “heel test” will reveal 36 rare diagnoses.

“Now we have blood stains of a newborn child in our hands, which were taken on the fourth day from birth. These bloodstains are being delivered to us.” – explained the head physician of the medical genetic center Fanil Bilalov.

Now blood for analysis will be taken on the second day after birth. And immediately delivered to one of the genetic centers. There will be ten of them across the country.

“This is what test forms with newborn blood samples look like. There are small holes here, which means that they have already been pierced, that is, they have taken material for analysis. And placed in this automated station. Here, the robot is now isolating DNA simultaneously from all samples. Then this reaction will be transferred to another device, and only after that geneticists will be able to start deciphering the results, ” showed Voropay.

These are already the results of the analyzes, each cell corresponds to the data of a particular newborn. For example, this child has a confirmed diagnosis of SMA. This is indicated by the deviation of the blue curve. For comparison, this is what an analysis of a healthy child looks like. Here, all lines are located on the same level, the journalist also added.

recalled the father of the child.

All these bad predictions really could have come true – if the gene breakdown had been detected too late. An expanded version of screening will save the lives of many children.

“We expect that as part of the expanded neonatal screening for 36 diseases, about two thousand children with hereditary diseases will be detected annually,” — said Yulia Mushtakova, press secretary of the scientific center.

Little Varya is at the very beginning of this long list. Doctors say: it develops according to age, and begins to crawl even ahead of peers. And for parents of children with a congenital disease, these words are the best in the world.