Motivation and Mandate

Data sharing bridges the genomic-clinical divide, thereby enabling translational medicine. Current frameworks for research ethics governance, information governance, and data privacy protections, however (and among other things), may frustrate the desire of individuals to share such data, both within and across jurisdictions.

The internationally-recognized human right of everyone to benefit from the progress of science and its applications can serve to break open current barriers. The primary role of the Regulatory and Ethics Work Stream (REWS) is to “activate” this human right—to promote forward-looking data governance through the Framework for Responsible Sharing of Genomic and Health Related Data, harmonized across countries, sectors, and institutions.

Existing Standards

The REWS continues to elaborate on the Framework with policies and tools found in the REWS Toolkit on consent, privacy and security, accountability, and ethics review equivalency. The REWS also plays an important support role within the GA4GH. It regularly assesses the ethical and regulatory implications of GA4GH Work Streams and work products. It liaises with Driver Projects to identify common and emerging issues and to harmonize real-world governance. 

Proposed Solution

In the next five years, the REWS aims to reduce the gap between the development of policies and actual implementable gene protocols and associated applications by responding to direct needs that were cited by the GA4GH community such as consent tools for clinical sequencing to enable use of data and health information in research. As part of the GA4GH work on harmonization of consent, the REWS will develop generic consent clauses for genomic research, large scale initiatives, clinical WGS and a typology of familial consent clauses. Recommendations from the multilingual, international Public Attitudes Survey (Your DNA Your SAY) will be incorporated in these clauses. These tools will help researchers when drafting consent forms so they can use language matching cutting-edge GA4GH international standards. Further, in collaboration with DURI, the REWS participated in the creation of a Machine Readable Consent Guidance document, associated with DUO, so researchers have the opportunity to articulate consent clauses in a machine readable way to promote efficient and accurate data sharing. It also permits aligning legal and technological terminology. In a sustained effort to provide best practices across sectors and jurisdictions, the REWS has established a Data Access Committee Review Standards (DACReS) team. The purpose of this initiative is to draft procedural standards and guidance to improve consistencies in Data Access Committee reviews, as well as their quality and effectiveness at ensuring adequate research data protections. The community also asked for a standardized approach to handling return of results since policies are highly divergent across sectors and jurisdictions. The REWS has contributed to completing a survey of stakeholder perspectives and is now in the process of drafting an aspirational policy on Genomic Return of Results in Research Studies. Noteworthily, the latter receives support from the GHIF community. Another way to reduce the gap between theory and practice in a healthcare setting while ensuring that governance serves the individuals providing the data is achieved through the multilingual, international Public Attitudes Survey (Your DNA Your Say). The Participant Patient Public engagement policy further explores solutions to build and sustain trusting relationships between participants, patients, publics and researchers. Finally, the Standard Genomic Data Licenses and Agreements led by GEM Japan marks the first step for a GA4GH intellectual property suite of external tools which will be based on values of interoperability and openness that enables sustainable data science and innovation.  

Planned Deliverables

Consent Toolkit 

• Type: Guide
• Expected Submission Date: Q4 2021
• Requesting Driver Projects: Genomics England, All of Us, Australia Genomics, Wellcome Genome Campus (Your DNA Your Say)

We envision a future where genomic variant testing will be part of standard medical care. The REWS Toolkit aims to contribute to the discussion in genomic medicine on consent, familial interests and data sharing. Guidance on the integration of genetics in medical care serves the needs of both clinicians and patients. How will their genomic data be shared (or not) with family members, health professionals or researchers? 

• Consent Clauses for Genomic Research: The first part of the Toolkit consists of updating the GA4GH 2015 genomic research consent clauses. A categorisation of generic consent clauses in genomic research is available to researchers in the format of a compendium of approved template clauses (2020). Please see the appropriate section below.
• Consent Clauses for Large Scale Initiatives: The second part of the Toolkit consists of collecting and analysing large scale initiatives’ consent forms for biobanking and population studies. This catalogue of consent clauses will be distilled and standardised into generic consent clauses for large scale initiatives and will enable researchers to build consent forms matching their needs. The trends observed in the consent clauses in biobanking and population studies will also lead to a narrative analysis to be submitted for publication. 
• Familial Consent Clauses: The third part of the Toolkit consists of generic familial consent clauses that cross the research and clinical settings as well as biobanking and population studies. The familial nature of genomics has implications for consent forms such as possible direct communication of genetic test results to family members and greater familial involvement. Thus, this part of the Toolkit focuses on creating a typology of familial clauses from their descriptive to their normative nature. The typology was published in the American Journal of Bioethics: Knoppers, Bartha Maria, and Kristina Kekesi-Lafrance. “The Genetic Family as Patient?.” The American Journal of Bioethics 20:6 (2020): 77-80. doi: 10.1080/15265161.2020.1754505. Generic consent clauses are under development. 
• Clinical (WGS) Consent Clauses: As whole genome sequencing enters routine medical care, other issues emerge such as the inclusion of WGS data in medical records, recontact options for research and anonymized deposit in variant databases. For this fourth part of the Toolkit, consent forms for genetic testing in the clinic will be collected and analysed. Their distillation will result in generic clinical consent clauses for whole genome sequencing that can be customized according to local and national requirements. The trends observed in clinical consent clauses will lead to a narrative analysis to be submitted for publication. 
• Consent Clauses for Rare Disease Research: Finally, model consent clauses for rare disease research were presented to the international genomic community in 2019 on behalf of the IRDiRC-GA4GH Model Consent Clauses Task Force through the publication of: Nguyen, Minh Thu, … Knoppers, B. M., et al. “Model consent clauses for rare disease research.” BMC Medical Ethics 20:1 (2019): 55. doi: 10.1186/s12910-019-0390-x.

Standard Genomic Data Licenses and Agreements

• Type: Policy Framework, Guide
• Expected Submission Date: Q4 2021
• Requesting Driver Projects: BRCAExchange, VICC, Genomics England, Human Cell Atlas, Monarch Initiative, GEMJapan, IHEC 

The time is ripe to consider licensing issues, as biomedical big data expands across research domains, sectors, and countries; as data scientists and ML/AI-companies seek to integrate and analyse multiple datasets to train and commercialize algorithms; and as technologies like APIs change the dynamics of data control and sharing.

The aim of the new forum will be to discuss international best practices for licensing data and other scientific resources. The initial focus will be on intellectual property considerations (namely copyright and database rights), in the context of publicly available biological and biomedical knowledge-bases. The forum will also explore metrics, educational tools, and guidance to help data scientists, stewards, repositories, and aggregators select a license, with a view towards interoperability and openness that enables sustainable data science and innovation. 

Initially, a forum will be established that will serve as an informal, networking opportunity consisting of a series of presentations from our members or external groups working on data licensing issues. 

The forum could later expand to look at:

• Standard licenses for public access data.
• Bilateral data transfer agreements (i.e. data use or data access agreements) in the genomics or biomedical big data context. 
• Licensing issues relating to data sharing, data citation, data privacy, research ethics, and international contracting practices. 
• Policy and infrastructure needed to achieve standardization of data licensing practices, including funding agency and institutional support, or an international host organization to promote standard licenses, analogous to the Open Source Initiative.

Participant Patient Public Engagement Policy

• Type: Guide, Policy Framework
• Expected Submission Date: Q4 2020
• Requesting Driver Projects: Foundational

Building and sustaining trusting relationships between participants, patients, publics and researchers is foundational to successful genomic science: without participants there are no data and no samples. Maintaining public trust is an ongoing imperative for GA4GH’s research, clinical and industry communities and there is wide recognition of the value of participants and public knowledge in shaping the policy and governance in genomics (‘how’ publics see Trust, is being evaluated by the Your DNA Your Say Survey). In this fast-moving field, where rapid technological development may move more quickly than our ability to appreciate its societal impacts, strong relationships with publics and participants promises to support the alignment of scientific endeavor with societal values and norms.

While building relationships and engaging with participants and the public is undoubtedly key to maintaining trust, there is less clarity about how to most effectively use and evaluate the range of engagement methods available, to what purpose and to what effect in diverse settings across the globe.

The aim of this project is to collect and analyze existing engagement practices and policies in the GA4GH Genomics in Health Implementation Forum (GHIF) as well as Driver projects and other relevant projects worldwide to identify gaps and potential for further innovation. This will enable us to develop a guide to engagement for genomics research which accounts for diversity and a GA4GH policy framework for good practice.

These activities would then be combined in an academic paper that would present the results of our research and provide best practices for institutions who are seeking guidance.

GDPR Forum

• Type: Ongoing Project
• Requesting Driver Projects: Foundational

Forum on the General Data Protection Regulation (EU) 2016/679 (GDPR) co-lead by Michael Beauvais (McGill University) and Fruzsina Molnar-Gabor (Heidelberg University). Launched in August 2018 as part of the REWS, the purpose of the Forum is to discuss and disseminate information regarding European data protection law – specifically the GDPR – and its impact on international genomic and health-related data sharing. Monthly one-page GDPR Briefs provide concise and timely guidance on specific topics relevant to health researchers, institutions, ethics bodies, and data sharing initiatives internationally. The Forum has been very successful as demonstrated by these charts. As of September 2020, the Forum has published 27 Briefs, the full list of which can be found here.

Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations

• Type: Guide, Other: Manuscript/Article
• Expected Submission Date: Q4 2020
• Requesting Driver Projects: Foundational

As an initiative of REWS, the document Responsible Data Sharing to Respond to the COVID-19 Pandemic: Ethical and Legal Considerations examines the intersection of law and ethics with COVID-19-related research. The document aims to specifically detail changes to ethico-legal frameworks, as well as give guidance regarding pre-existing provisions that may be particularly useful in the context of COVID-19-related research (e.g., the availability of consent waivers where there is great public interest in the research).

With much of the initial dust having settled, the document will be edited for clarity and consistency, before being archived as a community resource.

Participant Values Survey (Your DNA Your Say)

• Type: Ongoing Project
• Requesting Driver Projects: Foundational

Global online survey gathering public attitudes towards genomic data sharing using approachable, innovative films. Now have 37,000 completed surveys from 22 countries in 15 languages. 

The study outcomes can be incorporated into GA4GH tools such as the Consent Toolkit (Consent Clauses for Genomic Research, Consent Clauses for Large Scale Initiatives, Familial Consent Clauses and Clinical (WGS) Consent Clauses) and the Participant Patient Public Engagement Policy. 

Return of results – Survey of Stakeholder Perspectives

• Type: Policy Framework
• Expected Submission Date: Q4 2020
• Requesting Driver Projects: Foundational

Stakeholder views on the return of results from genomic research: a systematic review of quantitative and qualitative studies.

The main research question is: What are stakeholders’ views and experiences regarding return of individual results from genomic research?

• Follow on questions:
• Do stakeholders want to return/receive ‘individual findings’ and if so, on what basis?
• What types of results do clinicians and health providers want returned to their patients?
• Is there a sufficient evidence base for informing policy on return of individual results in genomic sequencing in the research context? If not, what are the under-researched areas?

Two questions not ultimately considered due to limitations in the data collected and synthesised during the review:

• How does this differ for secondary sharing of genomic data (i.e. data collected previously but used to answer new research questions)?
• What are stakeholders’ views on return of clinically significant findings, where informed consent for individual return of results was not sought at the time of data collection?

The final review included 184 peer-reviewed publications reporting empirical findings from 2005 to April 2020. The two most represented stakeholder groups were participants from clinical research studies and members of the public. Other stakeholder groups included: participants in biobanks; patients; researchers; health care professionals; and members of IRBs. Around two thirds of the papers were based on studies conducted in North America, primarily involving White/non-Hispanic populations with higher than average levels of income and education.

The evidence showed a high desire for return of results from genomic research from those who would receive them, and a general willingness to provide such results by those who would do so, although there is an acknowledgement that the focus should be on returning results that are reliable and clinically relevant. The outcomes from returning results were generally positive and there was little evidence of harm from doing so.

Return of results – Genomic Return of Results in Research Studies (Policy)

• Type: Policy Framework
• Expected Submission Date: Q4 2021
• Requesting Driver Projects: Genomics England, All of Us, Australia Genomics

There is an emerging international consensus that some results should be returned to participants in research studies. This ethical consensus is supported by laws and regulations across a wide variety of jurisdictions. The resources needed to return results have been falling. 

The first thing this policy aims to do is to set an aspiration for what should be aimed for. The starting proposition for this is the following: Any research study that provides genomic sequencing of human beings should budget for and implement a return of results policy to look for, and offer to return, at least a minimum list of actionable genomic findings, subject to participant consent. If resources within the research enterprise or the surrounding healthcare system are such that this is not achievable, there should be a clear statement as part of the consent that resources are not available but that returnable findings will be identified and returned if resources become available. 

Decisions about exactly what to return to research participants will be project specific. Aspects of the process by which a project’s return of results policy is developed and implemented are generalizable. The second aim of this policy is to capture these as guidelines and points to consider.

Finnish and Dutch Translation of the GA4GH Framework

• Type: Other: Translation
• Expected Submission Date: Q4 2020
• Requesting Driver Projects: Foundational

The Global Alliance for Genomics and Health (GA4GH) has developed a Framework for Responsible Sharing of Genomic and Health-Related Data which provides guidance for the responsible sharing of human genomic and health-related data, including personal health data and other types of data that may have predictive power in relation to health. This Framework is cited by many international expert organizations such as the World Economic Forum and the UK Digital Strategy. It has also proven to be useful to many genomics national initiatives.

We wish to provide two additional translations of the Framework to the current 13 translations (Arabic, Chinese, French, German, Greek, Hindi, Italian, Japanese, Japanese Interlinear, Korean, Portuguese, Russian, Spanish). We believe a Finnish and Dutch translation would be highly valuable and highly relevant for the international genomics community. We have contacted legally trained volunteers that can act as translators and validators and have found volunteers for both languages.

Data Access Committee Review Standards (DACReS)

• Type: Policy Framework, Guide
• Expected Submission Date: Q3 2021
• Requesting Driver Projects: Foundational

The Regulatory and Ethics Work Stream (REWS), in association with Data Use and Research Identities Work Stream (DURI), propose to develop procedural standards for data access committees that facilitate consistency, effectiveness, and robustness of reviews for data access requests to genomic and health-related data.

Both inappropriately restrictive and overly permissive policies governing access to genomic and associated clinical data challenge underlying principles of research ethics. Whereas the former prevents authorized persons from accessing data needed to advance genomic research, the latter places research participants at increased privacy risk given the inherent identifiability and sensitivity of genomic data. Data access committees (DAC) represent one institutional safeguard charged with applying rules meant to ensure an ethically permissible balance between data protection and utility in the research context. There are no standard review criteria, however, for how to operationalize these procedures across DACs. Moreover, access processes can differ where commercially valuable data or intellectual property is at stake, where data privacy laws impose jurisdiction-specific obligations, or where the data requested involve indigenous peoples. Lack of procedural standards and guidance can therefore invite inconsistencies in DAC reviews, compromising their quality and effectiveness at ensuring adequate research data protections. 

The DACReS team proposes to develop procedural standards for DACs using a similar policy development approach as the ERR with the following specific aims:

• Aim 1. Review current policies, processes and practices for reviewing access requests among publicly funded genomic-phenotypic research datasets e.g., those held by NIH dbGap and EGA 
• Aim 2. Identify sector-specific issues in reviewing data access requests, including where health and genomic data collected for clinical purposes are repurposed for research and where data are proprietary or have commercial value.
• Aim 3. Outline best practices/processes that mediate access of researchers to secure computing environments and datasets by applying a model-to-data approach.

Approved Deliverables

Framework for Responsible Sharing of Genomic and Health-Related Data

• Type: Policy Framework
• Approval Date: 2014

The GA4GH Framework for Responsible Sharing of Genomic and Health-Related Data provides a principled and practical framework for the responsible sharing of genomic and health-related data. It contains foundational principles and core elements for responsible data sharing and is guided by human rights, including the right to benefit from the progress of science, as well as privacy, non-discrimination, and procedural fairness.

Consent Policy

• Type: Policy Framework
• V2 Approval Date: 2019

The GA4GH Consent Policy aims to guide the sharing of genomic and health-related data in a way that respects autonomous decision-making while promoting the common good of international data sharing.

Data Privacy and Security Policy

• Type: Policy Framework
• V2 Approval Date: 2019

The GA4GH Data Privacy and Security Policy aims to guide the sharing of genomic and health-related data in a way that protects and promotes the confidentiality, integrity, and availability of data and services, and the privacy of individuals, families, and communities whose data are shared.

Ethics Review Recognition Policy

• Type: Policy Framework
• V2 Approval Date: 2020

The GA4GH Ethics Review Recognition Policy aims to inspire confidence in the adequacy of an ethics review from another jurisdiction’s ethics review system on the basis of equivalent requirements and the quality of the ethics review performed as part of that system. Recognizing the diversity of legal and ethical approaches and being responsive to emerging issues, this Policy encourages the reduction of duplicative ethics reviews through recognition approaches that enable ethics committees to accept the review of another ethics committee.

Machine Readable Consent Guidance

• Type: Guide
• V1 Approval Date: 2020

The GA4GH Machine Readable Consent Guidance provides instructions for researchers to integrate standard data sharing language into consent forms in a way that is able to be translated to a computable language. Machine readable consent language is able to be attached to datasets and stored in their descriptive data using DUO terms. Researchers can then search for datasets that have been consented to for their research purposes.

Copyright Policy

• Type: Policy Framework
• V1 Approval Date: 2020
• Known Implementations & Deployments: Foundational

The GA4GH Copyright policy ensures that the GA4GH has clear rights under copyright law to adapt and utilize individual and institutional contributions, incorporate them into GA4GH standards, and to distribute those standards widely. The policy encourages open and collaborative participation of institutions and individuals in standards development, and aims to recognize those who contribute.

Consent Toolkit: Consent Clauses for Genomic Research

• Type: Guide
• V1 Approval Date: 2020

The GA4GH Consent Clauses for Genomic Research provides researchers with sample phrases addressing various consent elements. Each sample clause can be adapted to fit different research and legal contexts, making this guidance useful to genetics and precision medicine studies around the globe.

COVID-19 Research: Navigating the European General Data Protection Regulation

• Type: Guide, Other: Manuscript/Article
• V1 Approval Date: 2020

This popular manuscript gives an in-depth look at the intersection of COVID-19-related research and the GDPR. 

Becker, Regina, Adrian Thorogood, Johan Ordish, and Michael J.S. Beauvais. “COVID-19 Research: Navigating the European General Data Protection Regulation.” Journal of Medical Internet Research 22, no. 8 (2020): e19799. https://doi.org/10.2196/19799.

 

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