A medical genetics center was established at the Research Institute of Childhood in the Moscow region.

The center will provide a range of services: counseling for adults and children with congenital and hereditary diseases, family support, and consultations for pregnant women. Diagnostic assistance will also be provided to patients under 18, including testing and treatment support. For individuals with limited mobility, mobile genetic counseling services will be available at medical facilities.

Particular attention is paid to the organization of neonatal screening. The regional Ministry of Health's order sets forth the procedure for collecting and transporting biological samples from newborns, as well as basic and advanced screening for a number of diseases, including cystic fibrosis, congenital hypothyroidism, adrenogenital syndrome, phenylketonuria, spinal muscular atrophy, and others. A monthly reporting form is provided for the center's monitoring.

The regulations also define the procedure for referring patients through the Unified Medical Information and Analytical System of the Moscow Region (UMIAS). In emergency cases, a consultation must be conducted within 24 hours of the diagnosis of the disease in a newborn. For adult patients, consultations will be provided jointly with the M.F. Vladimirsky Moscow Regional Scientific Research Institute (MONIKI).

The new center will collaborate with regional medical organizations, as well as the orphan center at the Research Institute of Childhood. It will act as a coordinator for providing patients with medications and specialized nutritional support.

Elena Zinatulina, the region's Deputy Minister of Health, has been assigned to oversee the implementation of the order. The ministry hopes that the creation of the center will help build a comprehensive patient support system, improve the quality of medical care, and increase the efficiency of the regional healthcare system's resources.

Expanding neonatal and molecular genetic screening programs is also on the federal agenda. In December 2024, Russian President Vladimir Putin instructed the government to submit proposals by May 2025 for the phased expansion of neonatal screening and the implementation of diagnostic programs for expectant parents.