Implementazione della sequenziamento del genoma rapido di prima linea per i bambini nelle unità di cura intensiva pediatrica e cardiaca.

Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single-center hospital policy change allowing broader, first-line rES/rGS for children in Cardiac and Pediatric Intensive Care Units (CICU, PICU). We conducted retrospective chart review from 1/1/2021-9/15/2024 for children in the CICU and PICU for whom genetic consultation was requested prior to (n = 64) and after (n = 211) the policy change. Exome and genome sequencing (ES/GS), both rapid and non-rapi