INTRODUCTION

The GA4GH 5th Plenary Meeting brought together more than 350 individuals for the launch of GA4GH Connect, a new phase of the organization focused on connecting GA4GH development work to the immediate data sharing needs of the genomics and health communities. An additional 100+ individuals joined the meeting by live stream on Day 3. Days 1 and 2 included internal working meetings while Day 3 was focused on launching GA4GH Connect to the broader community. It included a launch event with an international group of speakers discussing the importance of GA4GH for enabling genomic and health-related data sharing as well as a discussion with former and current US NIH directors, Harold Varmus and Francis Collins, on the importance of international open science. GA4GH Connect and the GA4GH 5th Plenary Meeting were covered by Bio-IT World, GenomeWeb, and Healthcare Informatics.

OCTOBER 15

On Day 1 of the GA4GH 5th Plenary Meeting, Work Streams convened for the first time in person to discuss deliverables and timelines for the 2018 Strategic Roadmap. Within each full-day meeting, a one-hour session devoted to Driver Projects brought in the Champions from each real-world genomic data initiative to specify their immediate standards needs in each domain. The full 2018 Strategic Roadmap will be released in January 2018.

OCTOBER 16

On Day 2 of the meeting, Driver Project Champions presented their needs for genomic data sharing standards and how they plan to work with GA4GH to identify, develop, and pilot those standards. These overviews were followed by presentations from Work Stream Leads on the team’s goals, planned deliverables and milestones, and plans for working with Driver Projects to produce workable genomic data sharing standards. Side meetings from the two Foundational Work Streams focused on activating the human right for all to benefit from advances in science, harmonizing data governance across traditional boundaries, and issues of breach response planning in a federated genomic data sharing ecosystem.

OCTOBER 17

GA4GH Connect Launch

1. Introduction to GA4GH Connect

Ewan Birney (EMBL-EBI, UK), Peter Goodhand (Ontario Institute for Cancer Research, Canada) 

GA4GH Steering Committee Chair Ewan Birney and Executive Director Peter Goodhand introduced the new 5-year Strategic Plan, GA4GH Connect. Birney spoke on the growing health care contribution to the world’s compendium of genome sequencing data and the resulting opportunity, responsibility, and challenge that these data present to the research and medical communities. Goodhand described the organizational changes associated with the new launch, including the introduction of 15 new GA4GH Driver Projects, which will work directly with 8 new Work Streams to develop the genomic data sharing standards and frameworks necessary to share data in the real world and the near-term.

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2. Leadership Video

Dame Sally Davies (Chief Medical Officer, UK), Jeremy Farrar (Wellcome Trust, UK), Eric Lander (Broad Institute of MIT and Harvard, USA), Sharon Terry (Genetic Alliance, USA)

Four world leaders from the genomics and health communities delivered recorded messages on the importance of genomic data sharing for the advancement of human health and medicine, as well as the role that GA4GH plays in enabling responsible sharing of genomic and health-related data.

3. Validators & Champions

Heidi Rehm (Broad Institute of MIT and Harvard), Bartha Knoppers (McGill University, Canada), Kathryn North (Australian Genomics, Australia), Sumit Jamuar (Global Gene Corp, India), Iscia Lopes-Cendes (UniCamp, Brazil), Nicola Mulder (H3Africa, South Africa), Makoto Suematsu (Japan Agency for Medical Research and Development, Japan), Marc Le Page (Genome Canada, Canada), David Glazer (Verily Life Sciences, USA), Kym Boycott (Children’s Hospital of Eastern Ontario, Canada)

A group of nine international leaders in the genomics and health communities delivered 3-minute key messages on why data sharing is necessary to advance human health in the era of genomic medicine. Topics included activating the human right to benefit from the advances of science, international collaboration, the importance of large, genetically diverse datasets for globally accessible precision medicine, and formalizing the historical culture of data sharing in the rare disease community through the development of infrastructure and standards.

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4. Patient Video

Kym Boycott (Children’s Hospital of Eastern Ontario), Maryse Derouin (Mother), David Dyment (Children’s Hospital of Eastern Ontario), Albert Vachon (Father), Justin Vachon (Patient), Alexie Vachon (Sister), Sunita Venkateswaran (Children’s Hospital of Eastern Ontario).

Justin Vachon was born in 1997 with a rare neurological disorder. His family’s diagnostic odyssey was brought to a close 19 years later when they shared his genetic data through Matchmaker Exchange—a GA4GH Driver Project and previous GA4GH Demonstration Project.

5. GA4GH Connect Q&A

Ewan Birney (EMBL-EBI)

Birney led a community question and answer session on GA4GH Connect.

Discussion: International Open Science

Ewan Birney (EMBL-EBI), Francis Collins (US National Institutes of Health), Harold Varmus (Weill Cornell Medical College)

Birney hosted a discussion on the subject of international open science with Collins (US National Institutes of Health (NIH) Director) and Varmus (former NIH Director and Nobel Laureate). The discussion covered issues of controlled versus open access to data and associated privacy concerns, the importance of international collaboration in developing data sharing infrastructure, encouraging individuals across disparate communities to work together toward a common goal, and promoting uptake of GA4GH standards and frameworks.

Enabling Technologies and Platforms

1. Opening Remarks

David Haussler (UCSC)

Haussler delivered opening remarks to the Enabling Technologies and Platforms session, noting that deployment of common technology for data sharing within GA4GH Driver Projects holds the opportunity to change the biomedical research ecosystem.

2. Europe, ELIXIR, and GA4GH

Niklas Blomberg (ELIXIR)

ELIXIR is the European infrastructure for life sciences data. It has 21 Members, which each host an ELIXIR Node, and aims to drive responsible data sharing across Europe by connecting the continent’s national investments in life sciences data management. Many of the Nodes are themselves collaborations, which allows ELIXIR to reach nearly every life science researcher across Europe. Blomberg discussed challenges to enabling international data sharing, including geographic distribution, access to identifiable human data, and meeting the open data mandate of many nations around the globe. He discussed ways that ELIXIR is meeting those challenges and how it is working with GA4GH to establish data sharing standards, particularly in the area of data discovery through its collaboration with the Beacon Project.

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3. The Pan-Cancer Analysis of Whole Genomes Project

Jan Korbel (EMBL Heidelberg)

Content embargoed until publication.

4. Privacy-Preserving Linkage of Genomic and Clinical Data Sets

Dixie Baker (Martin, Blanck & Associates)

The Privacy-Preserving Record Linkage (PPRL) task team launched in 2016 as a collaboration between GA4GH and the International Rare Diseases Research Consortium (IRDiRC) to address ethical questions, regulatory requirements, and technical approaches around PPRL. The primary motivation for the effort was the belief that having the ability to link data in a privacy preserving way would improve data quality for research and healthcare, while at the same time contributing to privacy risk—therefore requiring careful assessment of technical approaches that will enable global record linkage within the bounds of applicable jurisdictional law. The task team concluded that every technique currently available makes some use of individually identifiable data and that no technical solution alone can both enable data sharing and assure individual privacy—strong privacy policy, security protections, and governance are essential. The team concluded that the European Patient Identity management approach (EUPID) is most closely aligned with the needs of the GA4GH community.

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5. Enabling Technologies and Platforms Panel Discussion

David Haussler (UCSC), Niklas Blomberg (ELIXIR), Jan Korbel (EMBL Heidelberg), Dixie Baker (Martin, Blanck & Associates).

Haussler led a Q&A session following the session on Enabling Technologies and Platforms, covering the application of artificial intelligence and machine learning to large genomic datasets as they become available more broadly, as well as approaches for protecting data in the cloud, such as homomorphic encryption and federation.

Governing and Using Health Data

1. Opening Remarks

Bartha Knoppers (McGill University)

Knoppers opened the session on Governing and Using Health Data.

2. OECD Recommendation on Health Data Governance 2017

Jennifer Stoddart (McGill University)

In 1981, the Organisation for Economic Co-operation and Development (OECD) published the world’s first set of privacy and security guidelines for international data sharing. In 2011, the OECD began a series of studies on health care and health information. As the former Privacy Commissioner of Canada, Stoddart discussed the persistent barriers to data sharing and efforts to reconcile the 1981 guidelines with the urgent need to share health data more widely for the economic and medical betterment of OECD citizens. As a result of this work, the OECD released the Recommendation on Health Data Governance in 2017 with two important themes: (1) that all OECD countries establish a national health data governance framework, and (2) that these frameworks harmonize with other OECD countries. All OECD health ministers adopted the recommendation. Stoddart noted that this is a powerful policy instrument through which GA4GH can pursue its mission to enable a cultural shift toward data sharing which respects security and privacy.

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3. Facilitating Data Sharing through Data Protection: Towards a Code of Conduct

David Townend (Maastricht University)

Townend argued that the requirements of the European Union General Data Protection Regulation (GDPR) can and should be interpreted to facilitate research rather than to create barriers to it. He discussed the potential for GA4GH to participate in developing an international Code of Conduct on processing genomic and health data for research under the GDPR. He argued that the Code of Conduct should (1) include a definition of informed consent that allows for broad foreseeable uses of health data, (2) facilitate research as a compatible purpose for the secondary (unforeseen) processing of already gathered personal data, and (3) establish guidance on producing effective firewalls between de-identified and identifiable health data for research. Townend argued that a Code of Conduct for health and life science research under the EU GDPR must be constructed so as to ensure and contribute to an international governance structure in this area of international research.

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4. Your DNA, Your Say

Anna Middleton (Wellcome Genome Campus)

Your DNA, Your Say is a project of the GA4GH Participant Values Task Team, a subgroup of the Regulatory and Ethics Work Stream. It developed a survey that probes public attitudes on sharing genomic information across 14 languages including Japanese, Arabic, and Icelandic, and covers every continent except Antarctica. Because the majority of the public are unfamiliar even with the term “genomics,” the survey uses a series of videos that break down the issues into non-threatening, easy to understand messages. Middleton presented early results from the English speaking survey. For instance, individuals most in favor of sharing their data are those most familiar with the concept and those most familiar are patients. They also found that while the public can well articulate their fears about data sharing, those fears do not impact their willingness to do so and neither do socio-demographic differences among the respondents. The primary fear was associated with messages propagated by popular culture, suggesting that this may be itself a springboard for education.

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5. Governing and Using Health Data Panel Discussion

Bartha Knoppers (McGill University), Jennifer Stoddart (McGill University), David Townend (Maastricht University), Anna Middleton (Wellcome Genome Campus)

Knoppers led a panel discussion following the Governing and Using Health Data session, fielding questions from the audience and covering topics such as the cultural aspects of international health data governance and public perspectives on data sharing.

GA4GH Supporting Genomics and Health

1. Opening Remarks

Eric Green (US National Institutes of Health)

Green opened the session on GA4GH Supporting Genomics and Health, which included discussions of the GA4GH Connect Work Streams and 2017 Driver Projects.

2. Creating Technical Tools for Sharing Genomic Data

David Glazer (Verily Life Sciences)

Glazer discussed how the collective approaches of the GA4GH Technical Work Streams will come together to enable data interoperability in order to achieve “big health.” A set of standardized methods for accessing and analysing standardized data will make it possible for different researchers working in different computing environments around the globe to create knowledge that is portable and interoperable. All of this will need to be developed in a secure, privacy protected manner, Glazer said. He noted that while genomic data initiatives around the globe are evolving toward a convergent architectural approach, those architectures are not yet interoperable with one another. He outlined the idea of a “data biosphere for biomedical research” that (1) is standards based, (2) allows for the maximum amount of open sharing, (3) is community driven, and (4) is modular and portable.

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3. Curating and Discovering the Clinical Genome: GA4GH Efforts to Engage and Support

Heidi Rehm (Broad Institute of MIT and Harvard)

Rehm highlighted GA4GH Driver Projects that represent the clinical genomics community and ways that the Work Streams will be supporting them. She payed particular attention to ClinGen, the Variant Interpretation for Cancer Consortium (VICC), the BRCA Challenge, ELIXIR Beacons, Matchmaker Exchange, and the Monarch Initiative, which are all focused on curating and organizing knowledge and evidence. The work of the Clinical & Phenotypic Data Capture (CPDC) Work Stream, the Genomic Knowledge Standards (GKS) Work Stream, and the Discovery Work Stream will be critical for these groups to share data. CPDC will establish standard ontologies and information models to describe clinical phenotypes; GKS will develop and adapt standards to exchange genomic knowledge with a focus on those that integrate genomic and translational knowledge with clinical practice; Discovery will continue to develop APIs to facilitate genomic information exchange, with its first project under GA4GH Connect to focus on data sharing for ClinVar submissions.

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4. Implementing genomics into clinical practice

Kathryn North (Australian Genomics)

North discussed the challenge of implementing genomic data sharing standards and tools in clinical practice across the globe, using her experience with the Melbourne Genomic Alliance and Australian Genomics as examples. This will require an iterative, “whole of system” approach, she said, highlighting the National Initiatives meeting series, which has so far brought together nearly twenty countries with nationwide clinical genomics programs to discuss challenges and advances and to learn from one another and share resources. Taking a country-level approach to implementing genomics is the most efficient way to create a global data sharing network, North believes, since each health system is unique. She discussed the state-level program in Melbourne and how learnings from that project are now being implemented across Australia to bring genomic medicine to 25 million people through a national diagnostic network with genomic medicine centers in every state.

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5. Establishing a National Genomic Medicine Service

Sue Hill (UK National Health Service)

Genomics England’s 100,000 Genomes Project, a Driver Project of GA4GH Connect, was established in 2015 to implement genomic medicine in routine health care through the UK’s National Health Service. NHS England has established 13 Genomic Medicine Centers across 90 of the country’s 200 hospitals. It has so far collected more than 62,000 samples, and with the full roll-out planned for the end of 2018, will eventually reach three to seven million individuals. Currently, more than 36,000 whole genome sequences are available through the program, the bulk of which represent the rare disease patient community. The work has already demonstrated a diagnostic yield of 20 – 25% above the current standard of care within the NHS. Hill noted that as the world shifts towards a learning health system, it will be crucial for the broad community to be involved, including academics, clinicians, patients, and industry professionals working collaboratively across nations to change practice.

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6. GA4GH Supporting Genomics and Health Panel

Eric Green (US National Institutes of Health), David Glazer (Verily Life Sciences), Heidi Rehm (Broad Institute of MIT and Harvard), Kathryn North (Australian Genomics), Sue Hill (UK National Health Service)

Green led a panel discussion following the session on GA4GH Supporting Genomics and Health, fielding audience questions about strategies for returning secondary information to participants and how to increase integration between the clinical and research communities within national genome sequencing initiatives like Australian Genomics and Genomics England.

Closing: GA4GH Looking Forward

Ewan Birney (EMBL-EBI)

Birney closed the 5th Plenary Meeting of the Global Alliance for Genomics and Health, noting that while there is much more work ahead to ensure that genomic and health-related data are routinely shared according to GA4GH standards, the community has already come a long way since its inception.

5th PLENARY PROGRAMME COMMITTEE

Thank you to the Programme Committee who made this meeting possible:

• Heidi Rehm (Committee Chair)
• Peter Goodhand
• Bartha Knoppers
• Nicola Mulder
• Kathryn North

FUNDING PARTNER RECOGNITION

Thank you to the GA4GH 2017 Funding Partners whose support made GA4GH 5th Plenary possible.

Core Funders

Funding for this meeting was made possible in part by a supplement to U41HG006834 from the National Institutes for Health. The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.

Silver-level Funding Partners

Bronze-level Funding Partners