Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023.

ABSTRACT:

Objectives

Analysis of the clinical utility of rapid whole-genome sequencing (rWGS) outside of the neonatal period is lacking. We describe the use of rWGS in PICU and cardiovascular ICU (CICU) patients across four institutions.

Design

Ambidirectional multisite cohort study.

Setting

Four tertiary children's hospitals.

Patients

Children 0-18 years old in the PICU or CICU who underwent rWGS analysis, from May 2016 to June 2023.

Interventions

None.

Measurements and main results

A total of 133 patients underwent clinical, phenotype-driven rWGS analysis, 36 prospectively. A molecular diagnosis was identified in 79 patients (59%). Median (interquartile range [IQR]) age was 6 months (IQR 1.2 mo-4.6 yr). Median time for return of preliminary results was 3

SUBMITTER: Rodriguez KM 

PROVIDER: S-EPMC11300160 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature