GeneDx announced on June 25, 2025, the publication of new data from the SeqFirst study in The Journal of Pediatrics. Conducted in partnership with Seattle Children’s, the study supports the application of rapid exome sequencing (rES) and rapid genome sequencing (rGS) as a first-tier test for non-critical pediatric inpatients.
The study assessed the impact of using rES/rGS as a first-tier test, revealing a dramatic reduction in the average time to a precise genetic diagnosis from almost ten months to just 13 days following a policy change. Despite broad utilization, the diagnostic yield remained high, exceeding 40%, comparable to critical care settings.
These findings underscore a major opportunity to expand timely, precise genetic diagnoses in a setting where genomic testing is currently underutilized. Expanding rES/rGS access across pediatric inpatients is expected to reduce healthcare costs, shorten hospital stays, minimize unnecessary procedures, and improve outcomes for patients and families.
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