GeneDx announced on February 24, 2025, that the American Journal of Human Genetics published findings from the Seqfirst-neo study, conducted in partnership with Seattle Children’s and the University of Washington. This pioneering research focused on the application of rapid genome sequencing (rGS) in Neonatal Intensive Care Unit (NICU) settings.
The study introduced an exclusion-based criterion for rGS eligibility, which significantly increased the number of infants receiving a diagnosis, shortened time to diagnosis, and promoted equitable access for diverse populations. Findings suggest that at least 60% of Level IV NICU infants should be receiving rGS, highlighting a critical gap in current neonatal care.
With approximately 400,000 newborn admissions annually across 800 U.S. NICUs, tens of thousands of infants with genetic conditions are likely undiagnosed due to lack of access to testing. The study's results provide strong evidence for making rGS a standard part of NICU care to prevent missed diagnoses and ensure timely interventions.
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