作者
Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, Meredith Curtis, Stephanie Luca, Jason Buera, Danielle Arje, Miriam S Reuter, Bhooma Thiruvahindrapuram, Brett Trost, Wilson WL Sung, Ryan KC Yuen, David Chitayat, Roberto Mendoza-Londono, D James Stavropoulos, Stephen W Scherer, Christian R Marshall, Ronald D Cohn, Eyal Cohen, Julia Orkin, M Stephen Meyn, Robin Z Hayeems
发表日期
2020/9/1
期刊
JAMA network open
卷号
3
期号
9
页码范围
e2018109-e2018109
出版商
American Medical Association
简介
Importance
Children with medical complexity (CMC) represent a growing population in the pediatric health care system, with high resource use and associated health care costs. A genetic diagnosis can inform prognosis, anticipatory care, management, and reproductive planning. Conventional genetic testing strategies for CMC are often costly, time consuming, and ultimately unsuccessful.
Objective
To evaluate the analytical and clinical validity of genome sequencing as a comprehensive diagnostic genetic test for CMC.
Design, Setting, and Participants
In this cohort study of the prospective use of genome sequencing and comparison with standard-of-care genetic testing, CMC were recruited from May 1, 2017, to November 30, 2018, from a structured complex care program based at a tertiary care pediatric hospital in Toronto, Canada. Recruited CMC had at least 1 chronic condition, technology dependence (child is …
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G Costain, S Walker, M Marano, D Veenma, M Snell… - JAMA network open, 2020