Neonatal Monogenic Disease Screening Kit

2024: Test System Release

On February 20, 2024, Prime Minister RFMikhail Mishustin announced the release in Russia of a new test system for determining inherited diseases in newborns.

Drugs based on cellular technologies are being developed. One test system for newborns has already been registered. It is able to identify about 2.5 thousand hereditary diseases in the first days of the baby's life, - said the Prime Minister at the strategic session "Implementation of Socio-Economic Development Initiatives" on February 20, 2024.

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He did not specify the developer of the technology. However, it was previously reported that the National Medical Research Center of Obstetrics, Gynecology and Perinatology named after V.I. Kulakova created a diagnostic set of reagents that allows you to find 2.5 thousand genetic diseases.

As well as neonatal screening, the analysis of genetic information helps to learn in advance about the hereditary disease and take measures in time to save the life and health of the child. By February 2024, there are ways to treat or control genetic diseases, but for this you need to know about them in advance. For example, with malignant hyperthermia, a child looks outwardly healthy, but he cannot be given certain types of anesthesia, since there is a risk of death. You can prevent the development of galactosemia by just changing the nutrition of the newborn, but for this you need to find mutations in one of the metabolic genes in time. Spinal muscular atrophy is a severe disabling disease with a poor prognosis if missed. However, there are also medicines for it that need to be given before reaching two years, which means that timely diagnosis is vital. Only a genetic test also helps to avoid developmental delay in some forms of hearing loss.^[1]

2022: Instrument Announcement

In December 2022, the National Medical Research Center of Obstetrics, Gynecology and Perinatology named after V.I. Kulakova announced the creation of a set of reagents for high-throughput sequencing for the diagnosis of monogenic diseases in newborns, which in practice are not detected during neonatal screening.

The system in its tasks is similar to the standard neonatal screening, which is carried out for all newborn children. But not biochemical markers are analyzed, but genes. Exome DNA analysis of blood cells by high-throughput sequencing (NGS) is used, with the number of potentially diagnosed diseases being about 2 thousand, in contrast to the existing screening (5 nosologies) and its extended version (36 diseases), which is planned to be used from 2023.

A kit for screening monogenic diseases in newborns has been developed in Russia

According to the director of the National Medical Research Center named after V.I. Gennadiya Sukhikh Kulakov the project has been implemented since 2021, during which time the medical institution conducted 8,198 exome analyzes among 7,579 "conditionally" healthy and 619 children with clinical signs. A total of 174 cases of chromosomal abnormalities or mutations in exomes (2.5% of the total) were found, of which only six cases could be detected by extended neonatal screening.

During R&D, employees of the NMITs named after V.I. Kulakova developed a set of reagents "for high-throughput sequencing of human biological material in order to identify a wide range of hereditary monogenic diseases." The clinic submitted documents to Roszdravnadzor to obtain permission to produce a kit for medical organizations (by government decree No. 2026 of November 24, 2021 on the profile of unregistered products for in vitro diagnostics).

According to the National Medical Research Center named after V.I. Kulakov, by 2022 the frequency of monogenic diseases in the population is approaching 1% and is comparable to the frequency of chromosomal abnormalities.

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