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

Australia Biomarkers / metabolism Consensus Data Curation / methods Delivery of Health Care Gene Expression Gene Ontology Genetic Diseases, Inborn / diagnosis Genomics / methods Humans Mobile Applications / supply & distribution Molecular Sequence Annotation / standards Terminology as Topic United Kingdom

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
02 09 2021
Historique:
received: 26 04 2021
accepted: 27 06 2021
pubmed: 31 7 2021
medline: 16 9 2021
entrez: 30 7 2021
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.ajhg.2021.06.020 PMID: 34329581 PMC: PMC8456155
pubmed: 34329581
pii: S0002-9297(21)00268-8
doi: 10.1016/j.ajhg.2021.06.020
pmc: PMC8456155
pii:
doi:

Substances chimiques

Biomarkers 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1551-1557

Subventions

Organisme : Medical Research Council
ID : MC_EX_MR/M009203/1
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M009203/1
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Cancer Research UK
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_14089
Pays : United Kingdom

Informations de copyright

Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests Kathryn North is a member of the Editorial Board of The American Journal of Human Genetics. The other authors declare no competing interests.

Références

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Auteurs

Zornitza Stark (Z)

Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia. Electronic address: zornitza.stark@vcgs.org.au.

Rebecca E Foulger (RE)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Eleanor Williams (E)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Bryony A Thompson (BA)

University of Melbourne, Melbourne, VIC 3010, Australia; Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.

Chirag Patel (C)

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia.

Sebastian Lunke (S)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.

Catherine Snow (C)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Ivone U S Leong (IUS)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Arina Puzriakova (A)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Louise C Daugherty (LC)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Sarah Leigh (S)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Christopher Boustred (C)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Olivia Niblock (O)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Antonio Rueda-Martin (A)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Oleg Gerasimenko (O)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Kevin Savage (K)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

William Bellamy (W)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Victor San Kho Lin (VSK)

Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.

Roman Valls (R)

Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.

Lavinia Gordon (L)

Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.

Helen K Brittain (HK)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Ellen R A Thomas (ERA)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Guy's and St Thomas's NHS Trust, London SE1 9RS, UK.

Ana Lisa Taylor Tavares (AL)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Meriel McEntagart (M)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; St George's University Hospitals NHS Trust, London SW17 0QT, UK.

Susan M White (SM)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.

Tiong Y Tan (TY)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.

Alison Yeung (A)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.

Lilian Downie (L)

University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Ivan Macciocca (I)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Elena Savva (E)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Crystle Lee (C)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Ain Roesley (A)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Paul De Fazio (P)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Jane Deller (J)

National Health Service England and National Health Service Improvement, London SE1 6LH, UK.

Zandra C Deans (ZC)

National Health Service England and National Health Service Improvement, London SE1 6LH, UK.

Sue L Hill (SL)

National Health Service England and National Health Service Improvement, London SE1 6LH, UK.

Mark J Caulfield (MJ)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Kathryn N North (KN)

Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.

Richard H Scott (RH)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Augusto Rendon (A)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.

Oliver Hofmann (O)

Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.

Ellen M McDonagh (EM)

Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Open Targets and European Molecular Biology Laboratory - European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.

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Classifications MeSH

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