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

Genomics Health Alliance Acute Care Flagship, Australian; Lunke, Sebastian; Eggers, Stefanie; Wilson, Meredith; Patel, Chirag; Barnett, Christopher; Pinner, Jason; A. Sandaradura, Sarah; F. Buckley, Michael; Krzesinski, Emma; De Silva, M.; R. Brett, Gemma; Boggs, Kirsten; Mowat, David; P. Kirk, Edwin; C. Adès, Lesley; Akesson, Lauren; J. Amor, David; Ayres, Samantha; Baxendale, Anne; C. Borrie, Sarah; Bray, Alessandra; J. Brown, Natasha; Yee Chan, Cheng; Chong, Belinda; Cliffe, Corrina; B. Delatycki, Martin; Edwards, Matthew; Elakis, George; Fahey, Michael; Fennell, Andrew; Fowles, Lindsay; Gallacher, Lyndon; Higgins, Megan; B. Howell, Katherine; Hunt, L.; F. Hunter, Matthew; Jones, Kristi; King, Sarah; Kumble, Smitha; Lang, Sarah; Le Moing, Maelle; Ma, Alan; Phelan, Dean; C. Quinn, Michael; Mark Richards, A.; M. Richmond, Christopher; R. Riseley, Jessica; Rodgers, Jonathan; Sachdev, Rani; Sadedin, Simon; J. Schlapbach, Luregn; Smith, Janine; Springer, Amanda; B. Tan, Natalie; Yang Tan, Tiong; L. Temple, Suzanna; Theda, Christiane; Vasudevan, Anand; M. White, Susan; Yeung, Alison; Zhu, Ying; Martyn, Melissa; Best, Stephanie; Roscioli, Tony; Christodoulou, John; Stark, Zornitza

doi:10.1001/jama.2020.7671

Public

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

Published in JAMA • Jun 23, 2020

Authors:

Australian Genomics Health Alliance Acute Care Flagship

Sebastian Lunke

Stefanie Eggers

Abstract

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...

Subject

Medicine

Intensive care

Exome sequencing

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