The article discusses the current state of neonatal screening for hereditary diseases in Russia in terms of medical and technological status and regulatory regulation, taking into account positive foreign experience. The authors conclude that today there is a serious gap in the legal regulation of gene diagnostics, including neonatal screening for hereditary diseases in the Russian Federation. Questions remain open about the types of genetic diagnostics allowed and prohibited for conducting, about guarantees of non-discrimination of citizens and maintaining confidentiality of information about their hereditary diseases, as well as the fate of the remaining genetic samples.