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

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.