Dubai ICU Program Diagnoses 53 Percent of Critically Ill Children Using Rapid Genome Sequencing
A rapid whole-genome sequencing program in Dubai intensive care units analyzed 100 critically ill pediatric patients from 18 Middle Eastern and Asian countries and returned diagnoses for 53 percent of them in a median of 3.4 days, according to results published in Nature Medicine. The diagnostic rate climbed to 80 percent in consanguineous families. The program, called Little Falcon, changed clinical management in 53 percent of patients, including 45 who received molecular diagnoses and 8 who did not. Disease trajectories shifted in 16 percent of cases. Compared with a matched historical cohort that received standard genetic testing, the rapid sequencing cut diagnostic time from 38 days to 3.4 days, raised diagnostic yield from 30 percent to 53 percent, and improved clinical management rates from 18 percent to 53 percent. Multiple molecular findings turned up in 12 percent of patients, including dual diagnoses in 5 percent, newborn screening variants in 4 percent, and American College of Medical Genetics secondary or incidental findings in 3 percent.
The results may guide implementation of rapid sequencing in populations with high rates of recessive genetic disease and demonstrate that the approach can be integrated into routine intensive care within a centralized healthcare system.
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].