Implementation of First-Line Rapid Genome Sequencing in Non–Critical Care Pediatric Wards - 01/10/25

Doi : 10.1016/j.jpeds.2025.114699

Alexandra C. Keefe, MD, PhD ^1,², Abbey A. Scott, MS ², Lukas Kruidenier, MS ², Jessie Conta, MS ², Darci Sternen, MS ², Sarah Clowes Candadai, MS ², Shannon M. Stasi, MS ², Julia Parish-Morris, PhD ³, Megan Sikes, MS ², Margaret P. Adam, MD ^1,², Anita E. Beck, MD, PhD ^1,², Jennifer C. Hayek, MD ^1,², Ian Glass, MD ^1,², James T. Bennett, MD, PhD ^1,², Ghayda Mirzaa, MD ^1,², Paul Kruszka, MD ⁴, Kirsty McWalter, MS ⁴, Deborah Copenheaver, MS ⁴, Bethany Friedman, MS ⁴, Mike Bamshad, MD ^1,², Katrina M. Dipple, MD, PhD ^1,², Tara L. Wenger, MD, PhD ^1,^2,^⁎

¹ Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, WA

² Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA

³ Department of Biomedical and Health Informatics, University of Pennsylvania, Philadelphia, PA

⁴ GeneDx, LLC, Gaithersburg, MD

^∗ Reprint requests: Tara L. Wenger, MD, PhD, Division of Genetic Medicine, 4800 Sand Point Way, Seattle Children's Hospital, Seattle, WA. Division of Genetic Medicine 4800 Sand Point Way Seattle Children's Hospital Seattle WA

Abstract

Objective

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.

Study design

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.

Results

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.

Conclusions

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.

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Keywords : exome sequencing, genome sequencing, pediatric wards

Abbreviations : CF, CT, ED, EHR, ES, GS, ICU, MRI, rES, rGS, PrGD, SCH

Plan

Methods

Study Design

Financial Aspects of Testing

Inclusion Criteria and Testing

Group Assignment

Statistical Analysis

Results

Baseline Genetic Testing Ordering Patterns, Diagnostic Rate, and Time to PrGD

Case Vignettes

Discussion

Data Statement

CRediT authorship contribution statement

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Vol 286

Article 114699- novembre 2025 Retour au numéro

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Implementation of First-Line Rapid Genome Sequencing in Non–Critical Care Pediatric Wards - 01/10/25

Abstract

Objective

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Results

Conclusions

Plan

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