Tara L Wenger, Abbey A Scott, Lukas Kruidenier, Jennifer C Hayek, Anita E Beck, Penny Chow, Ian Glass, Margaret P Adam, James T Bennett, Katrina M Dipple, Megan Sikes, Jonathan Marquez, Kirsty McWalter, Britt Johnson, Alexandra C Keefe
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".
PURPOSE: 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.
METHODS: 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).
RESULTS: 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).
CONCLUSION: 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".