Journal article

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

Zornitza Stark, Rebecca E Foulger, Eleanor Williams, Bryony A Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone US Leong, Arina Puzriakova, Louise C Daugherty, Sarah Leigh, Christopher Boustred, Olivia Niblock, Antonio Rueda-Martin, Oleg Gerasimenko, Kevin Savage, William Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon Show all

AMERICAN JOURNAL OF HUMAN GENETICS | CELL PRESS | Published : 2021

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 identif..

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Grants

Awarded by Australian National Health and Medical Research Council


Funding Acknowledgements

We thank all PanelApp reviewers and those who have contributed feedback or gene lists to help in the development of PanelApp; individual panels show the names and affiliations of contributors. The Australian Genomics Health Alliance is supported by the Australian National Health and Medical Research Council (GNT1113531). M.J.C. was funded by the National Institute for Health Research (NIHR) as part of the portfolio of translational research of the NIHR Biomedical Research Center at Barts and The London School of Medicine and Dentistry. He is supported as an NIHR senior investigator, and this work was funded by the MRC eMedLab award. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health). The 100,000 Genomes Project is funded by the NIHR and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the NHS England as part of their care and support. We thank all participants in the 100,000 Genomes Project.