The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
| Title: | The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. |
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| Authors: | DiStefano MT; Geisinger Health System, Danville, PA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Goehringer S; Geisinger Health System, Danville, PA.; Babb L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Amberger J; Online Mendelian Inheritance in Man (OMIM), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Amin M; INSERM, US14 - Orphanet, Paris, France.; Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Department of Pathology, Massachusetts General Hospital, Boston, MA; Mass General Brigham Laboratory for Molecular Medicine, Cambridge, MA.; Balzotti M; Myriad Women's Health, San Francisco, CA.; Berg JS; Department of Genetics, UNC School of Medicine, University of North Carolina, Chapel Hill, NC.; Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.; Bocchini C; Online Mendelian Inheritance in Man (OMIM), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Bruford EA; HUGO Gene Nomenclature Committee (HGNC), European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom; Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Coffey AJ; Illumina Clinical Services Laboratory, Illumina Inc, San Diego, CA.; Collins H; National Library of Medicine, Bethesda, MD; ICF International Inc, Fairfax, VA.; Cunningham F; Genome Interpretation, Genome Assembly and Annotation (GAA), European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.; Daugherty LC; Genomics England, Queen Mary University of London, London, United Kingdom; Healx Ltd, Cambridge, United Kingdom.; Einhorn Y; Franklin by Genoox, Palo Alto, CA.; Firth HV; Department of Medical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom.; Fitzpatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, College of Medicine & Veterinary Medicine, The University of Edinburgh, Edinburgh, United Kingdom.; Foulger RE; Genomics England, Queen Mary University of London, London, United Kingdom; SciBite Limited, BioData Innovation Centre, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.; Goldstein J; Department of Genetics, UNC School of Medicine, University of North Carolina, Chapel Hill, NC.; Hamosh A; Online Mendelian Inheritance in Man (OMIM), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Hurles MR; Wellcome Sanger Institute, Hinxton, United Kingdom.; Leigh SE; Genomics England, Queen Mary University of London, London, United Kingdom.; Leong IUS; Genomics England, Queen Mary University of London, London, United Kingdom.; Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Martin CL; Geisinger Health System, Danville, PA.; McDonagh EM; Genomics England, Queen Mary University of London, London, United Kingdom; Open Targets, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom.; Olry A; INSERM, US14 - Orphanet, Paris, France.; Puzriakova A; Genomics England, Queen Mary University of London, London, United Kingdom.; Radtke K; AmbryGenetics, Aliso Viejo, CA.; Ramos EM; National Human Genome Research Institute, National Institutes of Health Bethesda, MD.; Rath A; INSERM, US14 - Orphanet, Paris, France.; Riggs ER; Autism & Developmental Medicine Institute, Geisinger, Danville, PA.; Roberts AM; National Heart and Lung Institute & MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom; Great Ormond Street Hospital, London, United Kingdom.; Rodwell C; INSERM, US14 - Orphanet, Paris, France.; Snow C; Genomics England, Queen Mary University of London, London, United Kingdom.; Stark Z; Australian Genomics, Melbourne, Australia.; Tahiliani J; Invitae, San Francisco, CA.; Tweedie S; HUGO Gene Nomenclature Committee (HGNC), European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.; Ware JS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; National Heart and Lung Institute & MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.; Weller P; Autism & Developmental Medicine Institute, Geisinger, Danville, PA.; Williams E; Genomics England, Queen Mary University of London, London, United Kingdom.; Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter, United Kingdom.; Yates TM; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, College of Medicine & Veterinary Medicine, The University of Edinburgh, Edinburgh, United Kingdom.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA. Electronic address: HREHM@mgh.harvard.edu. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Aug; Vol. 24 (8), pp. 1732-1742. Date of Electronic Publication: 2022 May 04. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| Language: | English |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2022- : [New York] : Elsevier; Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998- |
| MeSH Terms: | Databases, Genetic* ; Genomics*; Genetic Testing ; Genetic Variation ; Humans |
| Abstract: | Purpose: Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a gene in disease and a single harmonized resource were lacking. To tackle this issue, the Gene Curation Coalition (GenCC) was formed.; Methods: The GenCC drafted harmonized definitions for differing levels of gene-disease validity on the basis of existing resources, and performed a modified Delphi survey with 3 rounds to narrow the list of terms. The GenCC also developed a unified database to display curated gene-disease validity assertions from its members.; Results: On the basis of 241 survey responses from the genetics community, a consensus term set was chosen for grading gene-disease validity and database submissions. As of December 2021, the database contained 15,241 gene-disease assertions on 4569 unique genes from 12 submitters. When comparing submissions to the database from distinct sources, conflicts in assertions of gene-disease validity ranged from 5.3% to 13.4%.; Conclusion: Terminology standardization, sharing of gene-disease validity classifications, and resolution of curation conflicts will facilitate collaborations across international curation efforts and in turn, improve consistency in genetic testing and variant interpretation.; (Copyright © 2022 American College of Medical Genetics and Genomics. All rights reserved.) |
| Competing Interests: | Conflict of Interest R.E.F. is an employee of SciBite Ltd, an Elsevier company. Her work toward this paper was performed when she was employed by Genomics England. The following authors are employees for a commercial laboratory that offers clinical genetic testing: M.B., A.J.C., K.R., J.T. All other authors declare no conflicts of interest. |
| Grant Information: | RE/18/4/34215 United Kingdom BHF_ British Heart Foundation; U24 HG006834 United States HG NHGRI NIH HHS; 208349 United Kingdom WT_ Wellcome Trust; U24 HG003345 United States HG NHGRI NIH HHS; MC_UP_1102/20 United Kingdom MRC_ Medical Research Council |
| Contributed Indexing: | Keywords: Database; GenCC; Gene curation; Genetic diagnosis; The Gene Curation Coalition |
| Entry Date(s): | Date Created: 20220504 Date Completed: 20220810 Latest Revision: 20250728 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC7613247 |
| DOI: | 10.1016/j.gim.2022.04.017 |
| PMID: | 35507016 |
| Database: | MEDLINE |
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural