The BRCA Exchange: Global Data Sharing and Knowledge Exchange to Enable Accurate Clinical Care

Size: px

Start display at page:

Download "The BRCA Exchange: Global Data Sharing and Knowledge Exchange to Enable Accurate Clinical Care"

Allison Russell
5 years ago
Views:

1 The BRCA Exchange: Global Data Sharing and Knowledge Exchange to Enable Accurate Clinical Care Lena Dolman, MSc Manager, Clinical Working Group Manager, Strategy & Outreach Global Alliance for Genomics and Health (GA4GH) CCGenome17 June 29, 2017

BRCA variation is relatively common with well known medical implications No single source for BRCA variant information 2107 LOVD 3276 Variants High numbers of VUSs, where

2 BRCA variation is relatively common with well known medical implications No single source for BRCA variant information 2107 LOVD 3276 Variants High numbers of VUSs, where classification limited by inability to see all data on a variant ClinVar 7961 Variants UMD 3675 Variants As of May 2016 (UMD last public release (May 2015)) 2 Courtesy of Rachel Liao

3 Goal: To improve the care of patients at risk of breast and ovarian cancer by creating a decentralized, global public repository to assist in the analysis of BRCA1 and BRCA2 1. Share BRCA1 and BRCA2 variants publicly 2. Create an environment for collaborative variant curation with access to evidence (e.g. phenotypes, family history, genetic data, and functional studies) 3. Create a curated list of BRCA variants, interpreted by expert consensus, to enable, without dictating, accurate clinical care 4. Create a model for all genes 3 Courtesy of Rachel Liao

4 Goal: One-Stop Shop for BRCA1/2 Variant Data Courtesy of Faisal Alquaddoomi

5 Public repositories: Each contributes distinct information Combined, BRCA Challenge has aggregated ~19,000 individual deduplicated variants + CIMBA! 5 Courtesy of Rachel Liao

6 Option 1: Expert Reviewed data (>4,900 ENIGMAclassified variants) 6

7 Option 1: Expert Reviewed data 7

8 Option 2: All Public data 8

9 Option 2: All Public data 9

10 Option 2: All Public data 10

11 Coming soon More variants & more ENIGMA classifications More data types for All Public Data portal (e.g. functional assays) Automated curation tools for pre-computing (where possible) Restricted-access tier for case-level data review Your data? 11

12 Research Global Learning for Health Interoperable Data Sharing: APIs Standards Frameworks Interoperable Data Sharing: APIs Standards Frameworks Healthcare 12

13 Acknowledgements Project Manager Rachel Liao, Broad Institute (United States) Steering Committee Sir John Burn, Newcastle University Co-Chair Stephen Chanock, National Cancer Institute Co-Chair Antonis Antoniou, University of Cambridge Larry Brody, National Human Genome Research Institute Robert Cook-Deegan, Duke University Fergus Couch, Mayo Clinic Johan den Dunnen, Leiden University Medical Center Susan Domchek, University of Pennsylvania Douglas Easton, University of Cambridge William Foulkes, McGill University Judy Garber, Dana Farber Cancer Institute David Golgar, Huntsman Cancer Center Kazuto Kato, Osaka University Baroness Delyth Morgan, Breast Cancer Now Robert Nussbaum, Invitae Ken Offit, Memorial Sloan Kettering Cancer Center Sharon Plon, Baylor College of Medicine Nazneen Rahman, Institute of Cancer Research Gunnar Rätsch, ETH Zurich, SIB Heidi Rehm, Harvard Medical School Mark Robson, Memorial Sloan Kettering Cancer Center Wendy Rubinstein, National Institute of Health Amanda Spurdle, QIMR Berghofer Medical Research Institute Dominique Stoppa-Lyonnet, Curie Institute Sean Tavtigian, University of Utah 13

14 Thank you

Conflicts of Interest

Conflicts of Interest This is great information, but how do I use it?: Information needs of genetic counselors related to reclassification of Variants of Uncertain Significance Courtney Scherr, PhD Moffitt Cancer Center Teri