Portal de Periódicos da CAPES

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

2021; Elsevier BV; Volume: 108; Issue: 9 Linguagem: Inglês

10.1016/j.ajhg.2021.06.020

1537-6605

Zornitza Stark, Rebecca E. Foulger, Eleanor Williams, Bryony A. Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone Leong, Arina Puzriakova, Louise C. Daugherty, S. E. A. Leigh, C. R. Boustred, Olivia Niblock, Antonio Rueda-Martin, О. М. Герасименко, K. Savage, W. A. Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, Helen Brittain, Ellen Thomas, Ana Lisa Taylor Tavares, Meriel McEntagart, Susan M. White, Tiong Yang Tan, Alison Yeung, Lilian Downie, Ivan Macciocca, Elena Savva, Crystle Lee, Ain Roesley, Paul De Fazio, Jane Deller, Zandra C. Deans, Sue Hill, Mark J. Caulfield, Kathryn N. North, Richard H. Scott, Augusto Rendon, Oliver Hofmann, Ellen M. McDonagh,

Genomics and Phylogenetic Studies

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.