Pistoia Alliance European Conference 2015 - Julia Wilson / Global Alliance for Genomics and Health
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The document discusses the challenge of unlocking the potential of the unparalleled generation of human genomic and genetic data in a way that allows global data sharing. It introduces the Global Alliance for Genomics and Health, an international organization working to catalyze responsible data sharing through establishing interoperable standards and approaches. Key activities of the Global Alliance include several data sharing projects and working groups focused on clinical data, data representation, and ethics. The document encourages further international collaboration and participation to realize the benefits of genomic data sharing.
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Pistoia Alliance European Conference 2015 - Julia Wilson / Global Alliance for Genomics and Health
- 1. genomicsandhealth.org Julia Wilson Associate Director Wellcome Trust Sanger Institute
- 2. genomicsandhealth.org The Challenge Unparalleled generation of human genomic data Unparalleled generation of human genetic data
- 3. genomicsandhealth.org The Challenge Unparalleled generation of human genomic data Unparalleled generation of human genetic data How do we unlock its potential?
- 4. genomicsandhealth.org The Challenge In a way that allows data to be shared on a global level
- 5. genomicsandhealth.org The Challenge In a way that allows data to be shared on a global level Empowering new knowledge, new diagnostics and new therapeutics
- 6. genomicsandhealth.org The Challenge Data from millions of samples needed to achieve results - showing patterns that would otherwise remain obscure Right now: • Data is typically in silos: by type, by disease, by country, by institution • Analysis methods are non-standardized, few at scale • Approaches to regulation, consent and data sharing limit interoperability Will take new methods and organizational models
- 7. genomicsandhealth.org What can we do? Work together internationally to ensure interoperability of data and methods to harmonise approaches to ethics and regulation Support pilot projects that responsibly and effectively harmonise, analyse and share genomic and clinical data Engage professional communities and the public; build trust and encourage appropriate sharing and learning
- 8. genomicsandhealth.org What is the Global Alliance for Genomics and Health?
- 9. genomicsandhealth.org Role Convene stakeholders Catalyse sharing of data Create harmonised approaches Act as a clearinghouse Foster innovation Commit to responsible data sharing
- 10. genomicsandhealth.org The Global Alliance will NOT directly: Generate or store data Perform research or care for patients Interpret genomes Be exclusive to entities that have and share data
- 11. genomicsandhealth.org Organizational Members Global Alliance members include: 1. Universities & research institutes 2. Academic medical centers and health systems 3. Disease advocacy organisations & patient groups 4. Consortia & professional societies 5. Funders & agencies 6. Life science & information technology companies Last Update: 2 April 2015 305 Member Organizations
- 12. genomicsandhealth.org Member location Countries • Australia • Austria • Belgium • Brazil • Canada • China • Denmark • Finland • France • Georgia • Germany • Hong Kong • Hungary • India • Ireland • Italy • Japan • Mexico • Netherlands • New Zealand • Qatar • Russia • Singapore • South Africa • Spain • Switzerland • United Kingdom • United States • Venezuela 30 Last Update: 2 April 2015
- 13. genomicsandhealth.org How does the Global Alliance operate?
- 14. genomicsandhealth.org Organizational structure ~3,000 individuals 145 active on WG 804 Interest 103 active on WG 671 Interest 30 active on WG 519 Interest 292 active on WG 950 Interest
- 15. genomicsandhealth.org Working Groups Clinical Working Group: compatible, accessible and scalable approaches for sharing clinical data and linking genomic data Data Working Group: genomic data representation, storage, and analysis, with academic and industry leaders to develop interoperable standards for data exchange Regulatory and Ethics Working Group: ethics, legal and social implications of the Global Alliance, harmonising policies and standards, developing consent, privacy procedures, and best- practices in data governance and transparency Security Working Group: working to develop federated approaches for user identification and authentication
- 16. genomicsandhealth.org Operations • Host institutions • Wellcome Trust Sanger Institute • Ontario Institute for Cancer Research • Broad Institute of MIT and Harvard • Funding • Major international funders for sustainability • Outreach to public / philanthropic funders for expanded funding
- 18. genomicsandhealth.org Highlights and Working Group Products • GA4GH Genomics API and Reference Implementation enables DNA data providers and consumers to better share information and work together on a global scale • Framework for Responsible Sharing of Genomic and Health-Related Data foundational principles for responsible data sharing, guided by human rights, including privacy, non-discrimination, and procedural fairness • Security Infrastructure describes infrastructure policy and technology recommended for stakeholders in the Global Alliance ecosystem
- 20. genomicsandhealth.org • Undertaken by members • Catalysed and supported by coordinators and Working Groups • Drive learning, identify requirements and coordinate activity Beacon Project Matchmaker Exchange BRCA Challenge Current data sharing projects
- 21. genomicsandhealth.org A project to test the willingness of international sites to share genetic data in the simplest of all technical contexts • A beacon answers the simple question, have you observed a genome with a specific allele? • For example, you can ask 1000 Genomes Project beacon, do you have any genomes with an ‘A’ at position 100,000 on chr1? • Sharing data through a beacon o is technically simple o does not reveal privacy violating information The Beacon Project YES
- 22. genomicsandhealth.org Public Beacons Host Content AMPLab 1000 Genomes Project Broad Institute ExAC Curoverse PGP, GA4GH Example Data EBI 1000 Genomes Project, UK10K, GoNL, EVS, GEUVADIS, UMCG Cardio GenePanel Google 1000 Genomes Project, Phase III, Illumina Platinum Genomes ISB Known VARiants NCBI NHLBI Exome Sequence Project OICR 55 cancer datasets SolveBio 56 public datasets UCSC ClinVar, LOVD, UniProt University of Leicester Cafe CardioKit, Cafe Variome Central WTSI IBD, Native American, Egyptian, UK10K Over 120 public datasets beaconized across 12 institutions 10s thousands of individuals
- 23. genomicsandhealth.org Matchmaker Exchange • growing number of teams and projects working towards a federated platform (Exchange) • facilitate the matching of cases with similar phenotypic and genotypic profiles (matchmaking) through standardised application programming interfaces (APIs) and procedural conventions Matchmaker Exchange
- 24. genomicsandhealth.org Courtesy of Heidi Rehm API v1.0 Participants and Supporters
- 25. genomicsandhealth.org • Pooling data on BRCA genetic variants, bringing together information on sequence variation, phenotype and scientific evidence • Leverage existing and emerging BRCA data globally • Led by Stephen Channock (NCI) and John Burn (HVP) • Short-term – consolidate largest datasets through submission to existing BRCA databases (ClinVar and LOVD) • Longer term – expand data sources, expert classification of variants, and functional studies, etc. BRCA Challenge
- 26. genomicsandhealth.org Going Global and Moving Forward
- 27. genomicsandhealth.org Culture and incentives • International data sharing can be achieved by federation and use of metadata while respecting national and regional restrictions • To realise the benefits we need to create an environment where there is a willingness to share and learn from genomic data • Public attitudes towards personal data differ between countries and are changing • Increasing awareness of the benefit of sharing • Increasing attention to privacy • Collaborate on INTEROPERABILITY; Compete on Implementation
- 28. genomicsandhealth.org Working together • Individuals are KEY to creating the new tools, frameworks, projects and opportunities • Organizations are KEY to ensuring the adoption of best practices and support/reward of responsible data sharing • 3rd Plenary on June 9-10 in Leiden, NL • Use our API, adopt our polices, work with us • Join the Global Alliance for Genomics and Health • as an Individual Member • as an Organizational Member
- 30. genomicsandhealth.org In closing.. UK contacts Wellcome Genome Campus Julia Wilson jw20@sanger.ac.uk Stephen Keenan stephen.keenan@genomicsandhealth.org David Lloyd David.lloyd@genomicsandhealth.org
Hinweis der Redaktion
- If we don’t act: risk an overwhelming mass of fragmented data, such as electronic medical records in many countries
- Convene stakeholders to share information, best practices, and enable interoperability Catalyze sharing of data among members, supporting pilot projects that drive progress Create harmonized approaches, identify and study best practices; where needed develop new approaches; and broadly disseminate common frameworks Act as a clearinghouse, with a network effect of sharing best practices, cross-pollinating ideas, and communicating across stakeholder communities Foster innovation by identifying driving problems, bringing together experts, lowering barriers to introducing new methods and data, and enabling discovery Commit to responsible data sharing, working together to promote high standards for ethics and ensuring participants have the choice to share data if they so choose
- on this slide we have a list of Beacon providers and the content that they're serving. so to date we have over 120 public datasets that have been made available via Beacons at 12 different institutions. So this represents data from 10s of thousands of individuals and theses metrics, the numbers of datasets and individuals that they represent
- The Challenge In both research and clinical settings, the majority of patients with rare disease lack a clear etiology after exome and genome sequencing. Finding just a single additional case with a deleterious variant in the same gene and overlapping phenotype may provide sufficient evidence to identify the causative gene, but today, case data sits in isolated databases. The Solution The 'Matchmaker Exchange' project was launched in October 2013 to address this challenge and find genetic causes for patients with rare disease. This project will allow researchers and clinicians working in both germline and cancer to discover samples with a given rare genotype or phenotype.
- If we go down the right path, great potential for innovation, discovery and health This will involve a new and widespread willingness to share information We aren’t naïve – this will require cultural changes and incentives. Attitudes towards sharing are changing rapidly, and cut both ways. Together, we need to help drive this to an outcome to maximize benefit to human health while respecting the right to privacy and autonomy