GeneDx announced groundbreaking findings from its SeqFirst study, published in The Journal of Pediatrics, demonstrating the transformative impact of rapid exome sequencing (rES) and rapid genome sequencing (rGS) as a first-tier diagnostic tool for pediatric inpatients who are not in critical care. The study, conducted in partnership with Seattle Children's, revealed that implementing this rapid genomic testing significantly reduced the average time to a precise genetic diagnosis from nearly ten months (289 days) to just 13 days. Historically, pediatric inpatients with suspected genetic conditions often faced prolonged diagnostic journeys, leading to delayed treatments, worsening conditions, and escalating healthcare costs. The SeqFirst study directly addressed this by assessing the effect of a policy change allowing rES/rGS to be ordered as a first-tier test in non-critical care settings.

Despite a broader utilization of rapid genomic sequencing in this setting, the study maintained an impressive diagnostic rate exceeding 42%, a figure comparable to diagnostic yields seen in critical care environments. This high yield, combined with the dramatically shortened time to diagnosis, empowers earlier interventions, more effective care planning, and ultimately, improved outcomes for children suffering from rare and undiagnosed conditions.

The study's key findings strongly underscore the need for wider adoption of rapid genomic testing, revealing that physicians caring for pediatric inpatients are highly adept at recognizing appropriate candidates for genetic testing, with a remarkable 91% of consults resulting in a geneticist recommending testing. Furthermore, the research highlighted a critical issue: without the use of rES/rGS, cases can easily be lost to follow-up, significantly delaying access to crucial testing and a much-needed diagnosis. Most compellingly, the study demonstrated a dramatic improvement in diagnostic success, with the rate of precise genetic diagnoses from the initial encounter being over three times higher when rES/rGS was implemented as a first-line test.

Leaders from both GeneDx and Seattle Children's emphasize that access to rapid genomic testing should not be limited by a child's acuity level within the hospital. Expanding rES/rGS across all pediatric inpatient settings is not only vital for delivering faster answers and reducing uncertainty for families but also promises to significantly lower healthcare costs by shortening hospital stays, minimizing unnecessary procedures, and improving overall health system efficiency. This study marks a crucial step toward ensuring that all children benefit from the highest standard of genomic care.