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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected... 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

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Publisher
American Medical Association
Copyright
Copyright 2020 American Medical Association. All Rights Reserved.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2020.7671
Publisher site
See Article on Publisher Site

Abstract

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.

Journal

JAMAAmerican Medical Association

Published: Jun 23, 2020

References