National Rapid Genome Sequencing in Neonatal Intensive Care.

ABSTRACT:

Importance

National implementation of rapid trio genome sequencing (rtGS) in a clinical acute setting is essential to ensure advanced and equitable care for ill neonates.

Objective

To evaluate the feasibility, diagnostic efficacy, and clinical utility of rtGS in neonatal intensive care units (NICUs) throughout Israel.

Design, setting, and participants

This prospective, public health care-based, multicenter cohort study was conducted from October 2021 to December 2022 with the Community Genetics Department of the Israeli Ministry of Health and all Israeli medical genetics institutes (n = 18) and NICUs (n = 25). Critically ill neonates suspected of having a genetic etiology were offered rtGS. All sequencing, analysis, and interpretation of data were performed in a centr

SUBMITTER: Marom D 

PROVIDER: S-EPMC10884880 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature