Hospital-wide implementation of inpatient first-tier rapid genome sequencing.

This single-center study describes the diagnostic yield of first-tier inpatient rapid exome (rES) and rapid genome sequencing (rGS) in 1000 children after hospital-wide implementation across all units of a large children's hospital, over a 3.7-year period (5 May 2022 to 26 January 2026). Diagnostic rates in intensive care unit (ICU) settings were similar to those reported in prior studies (27.4-36.9%). The yield was slightly higher in children admitted to non-ICU wards (43.1%, 125/290). The highest yield across all clinical phenotypes present at the time of consult was for faltering growth admissions on non-ICU wards (65.2%, 30/46). The authors conclude that these data support first-tier rES/rGS for hospitalized children, including those outside intensive care.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The 43% yield outside intensive care is the headline result, but these are descriptive single-center data with no comparison group and no information on turnaround time or cost, and the denominator includes only children already selected by a genetics consult request. The 65% figure for faltering growth rests on 46 patients and needs replication before it becomes an indication in its own right. The data are nonetheless useful for arguing the case for rapid sequencing outside the ICU, where access is often still restricted.

Analysis by Dr Thibaut Benquey