Hospital-wide implementation of inpatient first-tier rapid genome sequencing.
prospective_cohort · Level II
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- Record sourced from PubMed, PMID 42615209.
- Also identified by DOI 10.1016/j.gim.2026.102685.
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Abstract
To characterize the impact of hospital-wide implementation of inpatient first-tier rapid exome (rES) and rapid genome sequencing (rGS) at a large children's hospital. This single-center study examines the diagnostic yield of rES/rGS in 1000 children after hospital-wide implementation of inpatient first-tier rES/rGS across hospital units, and by clinical phenotypes at the time of consult over a 3.7 year period (5/5/22-1/26/26). Our data demonstrate similar diagnostic rates as reported in prior studies for children in intensive care unit (ICU) settings (27.4-36.9%), and a slightly higher diagnostic rate in children admitted to non-ICU wards (43.1%; 125/290). The highest diagnostic rate across all clinical phenotypes present at consult was for "faltering growth" admissions in children admitted to non-ICU wards (65.2%; 30/46). This study provides descriptive data about clinical rES/rGS performed in 1000 children after hospital-wide implementation of first-tier rES/rGS. These data support implementation of first-tier rES/rGS for hospitalized children, including those outside of ICU settings, and potentially in the workup of "faltering growth".