Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

NPJ Genomic Medicine
Alicia ScocchiaRyan J Taft

Abstract

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 resulting from cWGS findings. Clinically significant genomic findings were identified in 68.3% (n = 41) of probands. No recurrent molecular diagnoses were observed. Copy number variants or gross chromosomal abnormalities accounted for 48.8% (n = 20) of the diagnosed cases, including a mosaic trisomy and suspected derivati...Continue Reading

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Citations

Dec 21, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lonna MollisonDebra Skinner
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Methods Mentioned

BETA
blood draw
biopsy
exome sequencing
blood draws

Software Mentioned

Canvas
cWGS
Strelka

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