| Literature DB >> 34329581 |
Zornitza Stark1, Rebecca E Foulger2, Eleanor Williams2, Bryony A Thompson3, Chirag Patel4, Sebastian Lunke5, Catherine Snow2, Ivone U S Leong2, Arina Puzriakova2, Louise C Daugherty2, Sarah Leigh2, Christopher Boustred2, Olivia Niblock2, Antonio Rueda-Martin2, Oleg Gerasimenko2, Kevin Savage2, William Bellamy2, Victor San Kho Lin6, Roman Valls6, Lavinia Gordon6, Helen K Brittain2, Ellen R A Thomas7, Ana Lisa Taylor Tavares2, Meriel McEntagart8, Susan M White5, Tiong Y Tan5, Alison Yeung5, Lilian Downie9, Ivan Macciocca10, Elena Savva10, Crystle Lee10, Ain Roesley10, Paul De Fazio10, Jane Deller11, Zandra C Deans11, Sue L Hill11, Mark J Caulfield2, Kathryn N North12, Richard H Scott2, Augusto Rendon2, Oliver Hofmann6, Ellen M McDonagh13.
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.Entities:
Mesh：
Substances：
Year: 2021 PMID： 34329581 PMCID： PMC8456155 DOI： 10.1016/j.ajhg.2021.06.020
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025