Pistoia Alliance European Conference 2015 - Julia Wilson / Global Alliance for Genomics and Health

genomicsandhealth.org

Julia WilsonAssociate DirectorWellcome Trust Sanger Institute


The Challenge

Unparalleled generation of

human genomic data

Unparalleled generation of human genetic data


The Challenge

Unparalleled generation of

human genomic data

Unparalleled generation of human genetic data

How do we unlock its potential?


The Challenge

In a way that allows data to be shared on a global level


The Challenge

In a way that allows data to be shared on a global level

Empowering new knowledge, new diagnostics and new therapeutics


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


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


What is the Global Alliance for Genomics and Health?


Role

Convene stakeholders

Catalyse sharing of data

Create harmonised approaches

Act as a clearinghouse

Foster innovation

Commit to responsible data sharing


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


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


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


How does the Global Alliance operate?


Organizational structure

~3,000 individuals

145 active on WG804 Interest





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


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


Our Work


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

genomicsandhealth.org19

http://GA4GH.org

http://ga4gh.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


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


Public Beacons

Host Content

AMPLab 1000 Genomes Project

Broad Institute ExAC

Curoverse PGP, GA4GH Example Data

EBI1000 Genomes Project, UK10K, GoNL, EVS, GEUVADIS, UMCG Cardio GenePanel

Google1000 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


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


Courtesy of Heidi Rehm

API v1.0

Participants and Supporters


• 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


Going Global and Moving Forward


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


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


Thank you!


In closing..

UK contacts Wellcome Genome Campus

Julia [email protected]

Stephen [email protected]

David [email protected]

mailto:[email protected]



Pistoia Alliance European Conference 2015 - Julia Wilson / Global Alliance for Genomics and Health

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