Genome sequencing as a first-line diagnostic test for hospitalized infants.

ABSTRACT:

Purpose

SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeastern United States, which are historically underrepresented in genomic medicine research.

Methods

GS and analysis were performed for 367 infants to detect disease-causal variation concurrent with standard of care evaluation and testing.

Results

Definitive diagnostic (DD) or likely diagnostic (LD) genetic findings were identified in 30% of infants, and 14% of infants harbored an uncertain result. Only 43% of DD/LD findings were identified via concurrent clinical genetic testing, suggesting that GS testing is better for obtai

SUBMITTER: Bowling KM 

PROVIDER: S-EPMC8995345 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature