Dubai program uses rapid genome sequencing to diagnose 53 percent of critically ill children
Researchers in Dubai evaluated the Little Falcon program, which provided citywide rapid whole genome sequencing for 100 critically ill pediatric patients from 18 Middle Eastern and Asian countries. The program achieved an overall diagnostic yield of 53 percent (95 percent CI 43.3-62.5 percent) with a median turnaround time of 3.4 days. The diagnostic yield reached 80 percent in consanguineous families (P < 0.001). Multiple molecular findings were identified in 12 percent of patients, including dual diagnoses (5 percent), while additional actionable findings included newborn screening-relevant variants (4 percent) and American College of Medical Genetics secondary or incidental findings (3 percent). Rapid whole genome sequencing led to clinically meaningful management changes in 53 percent of patients including those with (n = 45) or without (n = 8) molecular diagnoses, altering disease trajectories in 16 percent. Compared with a matched historical cohort of critically ill patients receiving standard genetic testing, rapid whole genome sequencing reduced diagnostic time (3.4 versus 38 days, P < 0.001), increased diagnostic yield (53 percent versus 30 percent, P < 0.01) and improved clinical management (53 percent versus 18 percent, P < 0.001).
Integrating rapid whole genome sequencing into neonatal and pediatric intensive care units can accelerate diagnoses and inform clinical care in populations with high consanguinity.
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].