Journal article

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

Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher P Barnett, Jason Pinner, Sarah A Sandaradura, Michael F Buckley, Emma I Krzesinski, Michelle G de Silva, Gemma R Brett, Kirsten Boggs, David Mowat, Edwin P Kirk, Lesley C Ades, Lauren S Akesson, David J Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie Show all

JAMA | AMER MEDICAL ASSOC | Published : 2020


Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable and consistent service across health care systems. Objective: To prospectively evaluate the performance of a multicenter network for ultra-rapid genomic diagnosis in a public health care system. Design, Setting, and Participants: Descriptive feasibility study of critically ill pediatric patients with suspected monogenic conditions treated at 12 Australian hospitals between March 2018 and February 2019, with data collected to May 2019. A formal implementation strategy emphasizing communication and feedback, standardized processes, coordina..

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Awarded by National Health and Medical Research Council

Awarded by Royal Children's Hospital Foundation

Funding Acknowledgements

The Australian Genomics Health Alliance (Australian Genomics) project was funded by grant GNT1113531 from the National Health and Medical Research Council Targeted Call for Research, grant 2017-906 from the Royal Children's Hospital Foundation, and unspecified grants from the Sydney Children's Hospital Network and the Channel 7 Children's Research Foundation. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian government's operational infrastructure support program.