作者
Alicia Scocchia, Kristen M Wigby, Diane Masser-Frye, Miguel Del Campo, Carolina I Galarreta, Erin Thorpe, Julia McEachern, Keisha Robinson, Andrew Gross, Subramanian S Ajay, Vani Rajan, Denise L Perry, John W Belmont, David R Bentley, Marilyn C Jones, Ryan J Taft
发表日期
2019/2/14
期刊
NPJ genomic medicine
卷号
4
期号
1
页码范围
5
出版商
Nature Publishing Group UK
简介
Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the “diagnostic odyssey”. Patients in resource-limited areas face even greater challenges—a definitive diagnosis may never be reached due to difficulties in gaining access to clinicians, appropriate specialists, and diagnostic testing. Here, we report on a collaboration of the Illumina iHope Program with the Foundation for the Children of the Californias and Hospital Infantil de Las Californias, to enable deployment of clinical whole genome sequencing (cWGS) as first-tier test in a resource-limited dysmorphology clinic in northern Mexico. A total of 60 probands who were followed for a suspected genetic diagnosis and clinically unresolved after expert examination were tested with cWGS, and the ordering clinicians completed a semi-structured survey to investigate change in clinical management …
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A Scocchia, KM Wigby, D Masser-Frye, M Del Campo… - NPJ genomic medicine, 2019