ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.Cancers · 2025Article
- SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.Database : the journal of biological databases and curation · 2024Article
- Making Mathematical Research Data FAIR: Pathways to Improved Data Sharing.Scientific data · 2024Article
- BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.Familial cancer · 2022Article
- Harmonizing variant classification for return of results in the All of Us Research Program.Human mutation · 2022Article
- Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.Journal of medical genetics · 2022Article
- From the patient to the population: Use of genomics for population screening.Frontiers in genetics · 2022Article
- Patient and public preferences for being recontacted with updated genomic results: a mixed methods study.Human genetics · 2021Article
- Article
- Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China.Molecular diagnosis & therapy · 2020Article
- Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Variant classification changes over time in BRCA1 and BRCA2.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.American journal of human genetics · 2019Article
- BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.PLoS genetics · 2018Article
- Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.Human mutation · 2018Article
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Human mutation · 2018Article
- Real-world health services utilisation and outcomes afterBMJ open · 2018Article
- Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Clinical testing ofNPJ genomic medicine · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 14 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeThe purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.MethodsBRCA1 and BRCA2 variant data were uploaded and shared through the Canadian Open Genetics Repository (COGR; http://www.opengenetics.ca). A total of 5,554 variant observations were submitted; classification differences were identified and comparison reports were sent to participating laboratories. Each site had the opportunity to reclassify variants. The data were analyzed before and after the comparison report process to track concordant- or discordant-variant classifications by three different models.ResultsVariant-discordance rates varied by classification model: 38.9% of variants were discordant when using a five-tier model, 26.7% with a three-tier model, and 5.0% with a two-tier model. After the comparison report process, the proportion of discordant variants dropped to 30.7% with the five-tier model, to 14.2% with the three-tier model, and to 0.9% using the two-tier model.ConclusionWe present a Canadian interinstitutional quality improvement program for DNA-variant interpretations. Sharing of variant knowledge by clinical diagnostic laboratories will allow clinicians and patients to make more informed decisions and lead to better patient outcomes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.