Study finds rapid genome sequencing boosts pediatric diagnoses at Seattle Children's

GeneDx (Nasdaq: WGS) has announced findings from a study published in Genetics in Medicine showing that hospital-wide implementation of rapid genome sequencing (rGS) across inpatient pediatric care units improved diagnostic rates at Seattle Children's hospital.

The study, conducted in collaboration with the clinical genetics team at Seattle Children's, evaluated more than 1,000 pediatric inpatients who received rGS across the neonatal intensive care unit, pediatric intensive care unit, cardiac intensive care unit, and non-critical care inpatient wards over a 3.5-year period.

Key findings included a 35% overall diagnostic yield, with non-ICU inpatient wards recording the highest rate at 43%. Children evaluated for faltering growth showed a 63% diagnostic yield, with 37 distinct genetic diagnoses identified in 36 patients and 4 patients receiving dual diagnoses.

"Historically, rapid genome sequencing has primarily been associated with critically ill infants in intensive care settings," said Tara L. Wenger, MD, PhD. "What this study shows is that the benefits extend far beyond the NICU, PICU, and CICU."

The study also found that hospital-wide rGS implementation eliminated race-based disparities in access to testing. Researchers noted the model was implemented without significantly expanding genetics staffing.

"The exceptionally high diagnostic yield identified in children experiencing faltering growth is particularly striking because these patients have not traditionally been viewed as clear candidates for rapid genome sequencing," said Alexandra C. Keefe, MD, PhD, a clinical genetics physician at Seattle Children's.

Linda Genen, MD, MPH, Chief Medical Officer at GeneDx, said the study offers "an important blueprint for health systems seeking to make genomic medicine a standard part of inpatient care."

The findings were published in Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics.

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