1. Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
- Author
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Elena Savva, Ivan Macciocca, Tiong Yang Tan, Victor S Lin, Ivone U.S. Leong, Mark J. Caulfield, Richard H. Scott, Ana Lisa Taylor Tavares, Crystle Lee, Kevin Savage, Kathryn N. North, Olivia Niblock, Christopher Boustred, Sarah Leigh, Arina Puzriakova, Ellen M. McDonagh, Alison Yeung, William Bellamy, Catherine E. Snow, Ellen R.A. Thomas, Antonio Rueda-Martin, Paul De Fazio, Bryony A. Thompson, Louise C. Daugherty, Helen K. Brittain, Eleanor Williams, Chirag Patel, Oliver Hofmann, Ain Roesley, Zornitza Stark, Jane Deller, Zandra C. Deans, Susan M. White, Rebecca E. Foulger, Lilian Downie, Sue Hill, Augusto Rendon, Sebastian Lunke, Meriel McEntagart, Oleg Gerasimenko, Lavinia Gordon, and Roman Valls
- Subjects
Consensus ,Computer science ,Process (engineering) ,MEDLINE ,Gene Expression ,Harmonization ,Terminology ,Terminology as Topic ,Gene panel ,Genetics ,Humans ,Data Curation ,Genetics (clinical) ,Australia ,Genetic Diseases, Inborn ,Molecular Sequence Annotation ,Genomics ,Resolution (logic) ,Mobile Applications ,Data science ,United Kingdom ,Identification (information) ,Gene Ontology ,Scale (social sciences) ,Perspective ,Delivery of Health Care ,Biomarkers - Abstract
Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these assessments for virtual gene panel design and maintenance. Harmonization efforts are hampered by the lack of agreed terminology, agreed gene curation standards, and platforms that can be used to identify and resolve discrepancies at scale. We undertook a systematic comparison of the content of 80 virtual gene panels used in two healthcare systems by multiple diagnostic providers in the United Kingdom and Australia. The process was enabled by a shared curation platform, PanelApp, and resulted in the identification and review of 2,144 discordant gene ratings, demonstrating the utility of sharing structured gene-disease validity assessments and collaborative discordance resolution in establishing national and international consensus.
- Published
- 2021
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