At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.

ABSTRACT:

Importance

Although the clinical utility of genome sequencing for critically ill children is well recognized, its utility for proactive pediatric screening is not well explored.

Objective

To evaluate molecular findings from screening ostensibly healthy children with genome sequencing compared with a gene panel for medically actionable pediatric conditions.

Design, setting, and participants

This case series study was conducted among consecutive, apparently healthy children undergoing proactive genetic screening for pediatric disorders by genome sequencing (n = 562) or an exome-based panel of 268 genes (n = 606) from March 1, 2018, through July 31, 2022.

Exposures

Genetic screening for pediatric-onset disorders using genome sequencing or an exome-based panel of 2

SUBMITTER: Balciuniene J 

PROVIDER: S-EPMC10391308 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature