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

Katherine M RodriguezJordan VaughtLisa SalzJennifer FoleyZaineb BoulilHeather M Van Dongen-TrimmerDrewann WhalenOkonkwo OluchukwuKuang Chuen LiuJennifer BurtonPrachi SyngalOfelia Vargas-ShiraishiStephen F KingsmoreErica Sanford KobayashiNicole G Coufal

Published in: Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies (2024)

In this 2016-2023 multiple-PICU/CICU cohort, we have shown that timely genetic diagnosis is feasible across institutions. Application of rWGS had a 59% (95% CI, 51-67%) rate of diagnostic yield and was associated with changes in critical care management and long-term patient management.

Keyphrases

case report
genome wide
cross sectional
gene expression
clinical trial
copy number
loop mediated isothermal amplification