Key PointsQuestionCan ultra-rapid genomic testing be performed for critically ill pediatric patients in a public health care system? FindingsThis multisite descriptive feasibility study included 12 Australian hospitals and 2 laboratories. Among the 108 critically ill infants and children with suspected monogenic conditions who had ultra-rapid genomic testing, the mean time to genomic test report was 3.3 days and the molecular diagnostic yield was 51%. MeaningThis study suggests feasibility of ultra-rapid genomic testing in a public setting for critically ill pediatric patients. However, further research is needed to understand its clinical value.
JAMA – American Medical Association
Published: Jun 23, 2020