GeneDx发布Genetics in Medicine研究论文，显示全院快速基因组测序可提高诊断率

Published in Genetics in Medicine, study shows broad inpatient implementation of rapid genome sequencing significantly increased diagnostic rates and reduced time to diagnosis
Children experiencing faltering growth saw striking 63% diagnostic yield
GAITHERSBURG, Md.
--(BUSINESS WIRE)--Aug. 24, 2026--
GeneDx
(Nasdaq: WGS), the leader in rare disease diagnosis and improving health through the power of genomic data, today announced new data published in
Genetics in Medicine
, an official journal of the
American College of Medical Genetics and Genomics
(ACMG), in collaboration with the clinical genetics team at Seattle Children’s. The study demonstrates that implementing first-tier rapid genome sequencing (rGS) broadly across inpatient pediatric care units improves diagnostic rates, patient outcomes, and operational efficiency within health systems.
The publication, “Hospital-wide implementation of inpatient first-tier rapid genome sequencing,” details Seattle Children’s study evaluating more than 1,000 pediatric inpatients who received rGS across the neonatal intensive care unit (NICU), pediatric intensive care unit (PICU), cardiac intensive care unit (CICU), and non-critical care inpatient wards over a 3.5-year period.
“Historically, rapid genome sequencing has primarily been associated with critically ill infants in intensive care settings,” said
Tara L. Wenger
, MD, PhD. “What this study shows is that the benefits extend far beyond the NICU, PICU, and CICU. Many hospitalized children across pediatric care settings may benefit from earlier genomic diagnosis, particularly patients who have experienced prolonged and unresolved clinical journeys.”
Key findings include:
35% overall diagnostic yield
43% diagnostic yield in non-ICU inpatient wards - the highest of any hospital unit
63% diagnostic yield among children evaluated for faltering growth, with 37 distinct genetic diagnoses identified in 36 patients and 4 patients having dual diagnoses
“The exceptionally high diagnostic yield identified in children experiencing faltering growth is particularly striking because these patients have not traditionally been viewed as clear candidates for rapid genome sequencing,” said
Alexandra C. Keefe
, MD, PhD, a clinical genetics physician at Seattle Children’s. “These findings suggest what we’ve long suspected. Many children outside traditional critical care settings may have underlying genetic conditions that are being missed or diagnosed too late. Many children may not even be referred to Genetics in the outpatient setting or recognized to have a genetic condition. Earlier genomic testing and finding a diagnosis during hospitalization meaningfully improves clinical management and long-term outcomes.”
This publication outlines a scalable new model for genomic medicine by demonstrating that hospitals can deliver earlier genetic diagnoses to more patients by expanding utilization of rGS outside of critical care units and without significantly expanding genetics staffing.
Broader implementation can lead to meaningful operational benefits for health systems as well, including reduced outpatient genetics wait times and improved equity in access to genetic diagnosis. Additionally, the study found that hospital-wide rGS implementation eliminated race-based disparities in access to testing, underscoring the potential for genomics to support more equitable care delivery at scale.
“This study provides an important blueprint for health systems seeking to make genomic medicine a standard part of inpatient care,” said Dr.
Linda Genen
, MD, MPH, Chief Medical Officer at
GeneDx
and a former practicing Neonatologist. “By expanding access to testing in non-critical care units, health systems can bring genomic answers to more children, reduce bottlenecks in specialty care, and build a more equitable and scalable model for precision medicine.”
About GeneDx
GeneDx’s (Nasdaq: WGS) mission is to empower everyone to live their healthiest life through genomics. GeneDx combines unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity
™
– the world’s largest rare disease genomic dataset. This unparalleled foundation powers GeneDx’s ExomeDx
™
and GenomeDx
®
tests – ranked #1 by expert geneticists and granted FDA Breakthrough Device designation – enabling clinicians to deliver precise, fast, and actionable diagnoses. GeneDx Infinity also fuels discovery for biopharma, with the most powerful AI-driven genomic intelligence. A genomics pioneer over the last 25 years, diagnosing more than 4,800 genetic diseases and publishing more than 1,000 research publications, GeneDx is building the network that will drive the future of genomic precision medicine. For more information, visit
genedx.com
and connect with us on
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,
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.
Forward Looking Statements
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Source: GeneDx