Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric Wards.

Abstract

To assess the impact on diagnostic yield and time to precise genetic diagnosis (PrGD) for children receiving genetic consultations in non-critical care settings after policy implementation allowing rapid exome sequencing (rES) and rapid genome sequencing (rGS) as first-line tests. Retrospective chart review for children admitted to a general pediatric ward who received a genetics consultation between January 1, 2021, and June 30, 2024 (n = 218), and comparison of patients preimplementation (consultation before May 6, 2022) and postimplementation (consultation after May 6, 2022) of using rES/rGS as a first-line test. Among general pediatric ward inpatients who had first-line rES/rGS, 42.3% (55/130) received a PrGD. Implementation of a policy allowing rES/rGS as a first-line test increased the fraction of rES/rGS tests ordered from 14.5% (8/55) to 79.8% (130/163). The average time to PrGD decreased from 289 days (median: 175 days; range: 16-838 days) in the preimplementation group to 13 days (median: 10 days; range: 4-59 days) in the postimplementation group. Use of rES and rGS as first-line tests in hospitalized children in non-critical care settings increased access to a PrGD, substantially shortened time to diagnosis, and improved patient outcomes.