Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.

ABSTRACT:

Background

Rapid next-generation sequencing (NGS) offers the potential to shorten the diagnostic process and improve the care of acutely ill children. The goal of this study was to report our findings, including benefits and limitations, of a targeted NGS panel and rapid genome sequencing (rGS) in neonatal and pediatric acute clinical care settings.

Methods

Retrospective analysis of patient characteristics, diagnostic yields, turnaround time, and changes in management for infants and children receiving either RapSeq, a targeted NGS panel for 4500+ genes, or rGS, at the University of Utah Hospital and Primary Children's Hospital, from 2015 to 2020.

Results

Over a 5-year period, 142 probands underwent rapid NGS: 66 received RapSeq and 76 rGS. Overall diagnostic yield wa

SUBMITTER: Palmquist R 

PROVIDER: S-EPMC10024604 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature