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

Tara L Wenger1, Abbey A Scott2, Lukas Kruidenier2

  • 1University of Washington, Seattle, WA, USA; Seattle Children's Hospital, Seattle, WA, USA; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Children's Hospital of Philadelphia, Philadelphia, PA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|August 19, 2026
PubMed

Insights

Hospital-wide rapid exome and genome sequencing (rES/rGS) in 1000 children showed high diagnostic yield, especially for non-ICU patients and those with faltering growth.

Area of Science:

  • Genomic medicine
  • Pediatric diagnostics
  • Next-generation sequencing

Background:

  • Rapid exome sequencing (rES) and rapid genome sequencing (rGS) are increasingly used for diagnosing critically ill children.
  • Implementation of rES/rGS across hospital units can impact diagnostic yield and patient care.

Purpose of the Study:

  • To evaluate the impact of hospital-wide implementation of inpatient first-tier rES/rGS.
  • To assess the diagnostic yield of rES/rGS in a large pediatric hospital cohort.

Main Methods:

  • Single-center study of 1000 children undergoing inpatient first-tier rES/rGS.
  • Analysis of diagnostic yield by hospital unit and clinical phenotype over 3.7 years.

Main Results:

  • Diagnostic rates in intensive care unit (ICU) settings were 27.4-36.9%.
  • Non-ICU wards showed a higher diagnostic rate of 43.1%.
  • Faltering growth admissions in non-ICU wards had the highest diagnostic rate (65.2%).

Conclusions:

  • Hospital-wide implementation of first-tier rES/rGS is supported by these findings.
  • rES/rGS is beneficial for hospitalized children, including those outside ICUs.
  • Consider rES/rGS for "faltering growth" workup in pediatric patients.
Abstract

Keywords:
diagnostic yieldfaltering growthhospitalized childrenimplementationrapid genome sequencing

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