The Timing of Diagnosis of Hereditary Diseases in Newborns will be Reduced in Russia from 2023

The new procedure for providing medical assistance to patients with congenital and (or) hereditary diseases will come into force on December 31, 2022. This is reported in the Order of the Ministry of Healthcare of the Russian Federation №274n on April 21, 2022 named «On the approval of the procedure for providing medical assistance to patients with congenital and/or hereditary diseases».

The order establishes groups of medico-genetic organizations providing assistance to patients with hereditary and congenital diseases; The requirements for reference centres for confirmatory diagnostics and the list of diseases for which advanced neonatal screening is carried out.

The recommended timing for diagnostics has been reduced due to the active work of the professional community of medical geneticists in developing the document.

The new system of organization of neonatal screening was approved at the meeting of the specialized Commission of the chief geneticists of all regions of Russia and is consolidated in the Order.

Sergey Voronin, chief physician of the Research Centre for Medical Genetics, said: «The order, as a normative document, established a system of organization of mass neonatal screening for 36 hereditary diseases in all regions of Russia: the timing of blood withdrawal and its delivery to regional and inter-regional medical genetic consultations (centres of extended screening), timing of primary screening and confirmation analyses».

Ten advanced neonatal screening centres and one reference centre will be established in Russia. The Research Centre for Medical Genetics meets the criteria of the Reference Center, fixed in the Order. Highly qualified specialists of RCMG also take part in the organizational work with the regions where the opening of the Centres is planned,  as well as the training of specialists.