作者
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 Adès, Lauren S Akesson, David J Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, Alessandra Bray, Natasha J Brown, Cheng Yee Chan, Belinda Chong, Corrina Cliffe, Martin B Delatycki, Matthew Edwards, George Elakis, Michael C Fahey, Andrew Fennell, Lindsay Fowles, Lyndon Gallacher, Megan Higgins, Katherine B Howell, Lauren Hunt, Matthew F Hunter, Kristi J Jones, Sarah King, Smitha Kumble, Sarah Lang, Maelle Le Moing, Alan Ma, Dean Phelan, Michael CJ Quinn, Anna Richards, Christopher M Richmond, Jessica Riseley, Jonathan Rodgers, Rani Sachdev, Simon Sadedin, Luregn J Schlapbach, Janine Smith, Amanda Springer, Natalie B Tan, Tiong Y Tan, Suzanna L Temple, Christiane Theda, Anand Vasudevan, Susan M White, Alison Yeung, Ying Zhu, Melissa Martyn, Stephanie Best, Tony Roscioli, John Christodoulou, Zornitza Stark
发表日期
2020/6/23
期刊
Jama
卷号
323
期号
24
页码范围
2503-2511
出版商
American Medical Association
简介
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, coordination, distributed leadership, and collective learning was used to facilitate adoption.
Exposures
Ultra-rapid exome sequencing.
Main Outcomes and Measures
The primary outcome was time from sample receipt to ultra-rapid exome …
引用总数
20202021202220232024431554118