WES-based screening of 7,000 newborns: A pilot study in Russia.

ABSTRACT: The effective implementation of whole-exome sequencing- and whole-genome sequencing-based diagnostics in the management of children affected with genetic diseases and the rapid decrease in the cost of next-generation sequencing (NGS) enables the expansion of this method to newborn genetic screening programs. Such NGS-based screening greatly increases the number of diseases that can be detected compared to conventional newborn screening, as the latter is aimed at early detection of a limited number of inborn diseases. Moreover, genetic testing provides new possibilities for family members of the proband, as many variants responsible for adult-onset conditions are inherited from the parents. However, the idea of NGS-based screening in healthy children raises issues of medical and ethical int

SUBMITTER: Shubina J 

PROVIDER: S-EPMC11350501 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature