Clinical Interpretation and Implications of Whole-Genome Sequencing
作者： Frederick E. Dewey , Megan E. Grove , Cuiping Pan , Benjamin A. Goldstein , Jonathan A. Bernstein
关键词: Concordance 、 Genotype 、 Pharmacogenetics 、 Human genetics 、 Genetic variation 、 Whole genome sequencing 、 Pathology 、 Genomics 、 Disease 、 Internal medicine 、 Medicine
摘要: Importance Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and expected to uncover clinically significant findings regardless of indication. Objectives To examine coverage concordance relevant genetic variation provided by WGS technologies; quantitate inherited disease risk pharmacogenomic data resources required for their discovery interpretation; evaluate action prompted findings. Design, Setting, Participants An exploratory study 12 adult participants recruited at Stanford University Medical Center who underwent between November 2011 March 2012. A multidisciplinary team reviewed all potentially reportable Five physicians proposed initial follow-up based on the Main Outcomes Measures Genome platform different categories risk, person-hours spent curating candidate disease-risk variants, interpretation agreement trained curators genetics databases, burden findings, interrater follow-up. Results Depending platform, 10% 19% genes were not covered accepted standards single nucleotide variant discovery. Genotype was high previously described variants (99%-100%) but low small insertion/deletion (53%-59%). Curation 90 127 each participant a median 54 minutes (range, 5-223 minutes) per variant, resulted moderate classification professionals (Gross κ, 0.52; 95% CI, 0.40-0.64), reclassified 69% cataloged as causing mutation databases uncertain or lesser significance. Two 6 personal discovered participant, including 1 frameshift deletion BRCA1 gene implicated hereditary breast ovarian cancer. Physician review consideration 3 diagnostic tests referrals with fair about suitability (Fleiss 0.24; P Conclusions Relevance In this volunteer adults, use associated incomplete genes, reproducibility detection highest potential effects, uncertainty certain cases, will identify actionable warranting early medical intervention. These issues should be considered when determining role medicine.
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