GeneDx has revealed new data from the SeqFirst study highlighting the impact of rapid exome sequencing (rES) and rapid genome sequencing (rGS) as a first-tier test for non-critical paediatric inpatients.
The study was conducted in collaboration with the Seattle Children’s clinical genetics team.
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According to the analysis published in The Journal of Pediatrics, rapid genome testing shortened the average precise genetic diagnosis time from nearly ten months to under two weeks.
The SeqFirst approach implementation led to the average time for a genetic diagnosis in paediatric wards falling from 289 to 13 days.
Despite increased use of rES/rGS, the diagnostic yield stayed high, surpassing 40%, on par with rates seen in critical care settings.
This acceleration facilitates earlier interventions and improved care planning for children with rare and undiagnosed conditions.
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By GlobalDataThe study highlighted that paediatric inpatient care providers identified candidates for genetic testing, with 91% of consults resulting in the testing recommended by a geneticist.
The implementation of rES/rGS has also been linked to a threefold increase in the rate of precise genetic diagnoses from the initial encounter.
GeneDx’s study emphasised the potential for cases to be lost to follow-up when rES/rGS is not utilised, leading to delayed testing and diagnosis.
GeneDx medical affairs senior vice-president Britt Johnson said: “This study underscores a major opportunity to expand timely, precise genetic diagnoses in non-critical care inpatients, a setting where genomic testing remains underutilised.
“As health systems aim to deliver care more efficiently, expanding rES/rGS access across paediatric inpatients should reduce costs, shorten hospital stays, minimise unnecessary procedures, and improve outcomes for patients and families.”
GeneDx completed the acquisition of Fabric Genomics, a US company specialising in AI-driven human genomic interpretation, last month.
