Regulatory & Ethics �Work Stream (REWS)

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Edward Dove and Yann Joly

University of Edinburgh and McGill University

ga4gh.org

GA4GH:�The Regulatory and Ethics Work Stream

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• Co-Chairs:
• Edward Dove, School of Law (University of Edinburgh)
• Yann Joly, Centre of Genomics and Policy (McGill University)

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• Co-Managers:
• Lindsay Smith, Ontario Institute for Cancer Research (OICR), Toronto
• Michael Beauvais, Centre of Genomics and Policy (McGill University)
• Kristina Kekesi-Lafrance, Centre of Genomics and Policy (McGill University)

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ga4gh.org

Welcome!

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1. EDI Workshop: Building a Diverse & Inclusive GA4GH

Please join us on March 3rd @ 8AM EST/1PM UTC

Join Meeting: here

Agenda

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• GA4GH Policy on Clinically Actionable Genomic Research Results - last call to contribute!

Comment period will close on March 4th @ 12PM EST/5PM UTC

Join Meeting: here

Agenda

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• Welcome new member: Charles Cox!

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ga4gh.org

GDPR Forum

Fruzsina Molnár-Gábor

Heidelberg Academy of Sciences and Humanities �Michael Beauvais�Centre of Genomics and Policy, McGill University

ga4gh.org

GDPR & International Health Data Sharing Forum

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The GA4GH GDPR Forum publishes monthly “GDPR Briefs” answering important questions about the GDPR’s impact on various aspects of international health research and genomic and health-related data sharing, and that further explore the various issues raised in the GDPR Primer.

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See here for a list of the Forum’s 31 (and counting) briefs.

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Sign up here.

ga4gh.org

Driver Projects’ Updates

ga4gh.org

ICGC ARGO

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Amber Johns

Garvan Institute of Medical Research (Australia)

ga4gh.org

All of Us

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Katherine Blizinsky

NIH

ga4gh.org

REWS - Driver Project Update

March 2, 2021

Katherine Blizinsky, PhD

Director, Policy Office

All of Us Research Program

Return of Genetic Results

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Genetic Ancestry

and Traits

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• Began returning results in late 2020
• >34 K notified they can get results if they want to
• >25 K said “Yes” to getting Genetic Ancestry and Traits results
• >20 K viewed genetic ancestry results
• >18 K have viewed at least one trait result

Health-related

• FDA IDE approved July 2020
• DNA from blood; supplement for saliva in process
• Returning ACMG 59 and PGx
• Genetic counselors will return LP/P results
• Downloadable/printable reports
• Ability to send report directly to health care provider
• Technical section for health care providers

Consent to Get DNA Results - 97% Yes; 1% No; 2% I’m not sure right now

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Researcher Workbench – addition of genomic data for research use

• Genomic data will be shared for research use through the Controlled Tier of the Researcher Workbench

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• Policy hurdle - NIH’s Genomic Data Sharing policy
• Requirement to share large-scale genomic data in NIH-designated data repository, de-identified by removal 18 identifiers defined by HIPAA’s safe harbor method

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• Ethical considerations - genomic data annotation
• Navigating the tensions between potential duty to warn, respect for

participant choices, and maximizing utility of data for broadest

possible research audience

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Australian Genomics

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Clara Gaff

University of Melbourne

ga4gh.org

Australian Genomics �

DRIVER PROJECT UPDATE

REWS Meeting 2^nd March, 2021

Prof Clara Gaff

Phase II

• Australian Genomics has been funded 2021-2023 by the Australian Government Department of Health
• Objectives:

1) Progress a sustainable nationally-coordinated approach to genomic research by leveraging core capabilities in support of government-funded genomic research projects: to improve the efficiency, reach and timeliness of genomic research projects; consolidate genomic research findings; share genomic research datasets to enhance genomic research in Australia.

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2) To support Commonwealth and state and territory health departments in the communication and implementation of genomic research learnings and outcomes; refinement of evidence collection to support government priorities; and inform policy development and implementation.

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A key difference is that Australian Genomics will no longer run its own genomic clinical ‘flagship’ studies (cohort studies), but will support other projects to do so.

Five Domains of activity

Health

Research

Policy

Data

Reach

Australian Genomics as a driver project�ACTIVITY OUTLINE – RELATING TO REWS

POLICY:

• Support Health Departments in communication and translation of genomic research learnings and outcomes; support government priorities and inform policy development and implementation
• Develop recommendations to inform genomic policy; promote a nationally-consistent approach to genomic practice in Australia
• Improve genomic literacy of the public through the development and promotion of accurate, trusted information on genomics
• Indigenous priorities and bioethical issues span all activities across the Policy and all other domains

RESEARCH:

• Maintain a suite of participant materials and resources for research consent, education, information and community engagement that can be adapted for projects to use

DATA:

• Develop data governance policies and procedures for consistent management of genomic research datasets in support of secondary use and sharing, according to participants’ wishes
• Implement data access control systems to streamline data sharing such as DUOS and REMS
• Further develop and support digital research consent platforms to harmonise participant experiences and engagement
• GA4GH standards inform all data projects

REACH:

• Developing research strategies and standards to drive the active involvement of Aboriginal and Torres Strait Islander peoples in genomic research, and incorporate Indigenous health priorities in research strategies

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WORKSHOP

• On 17^th February, Australian Genomics and DNV GL co-hosted a workshop on Digital Dynamic Consent for Genomic Medicine, with participants from REWS and DUO, RUDY Japan, HeLEX Oxford/Melbourne, CanDIG.
• Workshop objectives were to promote the sustainable uptake of dynamic consent,

act as a resource for those wanting to implement dynamic consent, and identify

opportunities for future collaboration

• Outcomes will include a workshop report and ongoing dialogue about opportunities

for collaboration. Please reach out for more information!

REWS UPDATE�OTHER RECENT DEVELOPMENTS

REGULATORY AND POLICY LANDSCAPE IN AUSTRALIA

• A consultation on the legalising mitochondrial donation in Australia is underway, following an extensive public consultation and review of the scientific, legal, regulatory and ethical issues, completed in 2020

Your DNA Your Say Survey

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Anna Middleton & Richard Milne

Wellcome Genome Campus

ga4gh.org

Your DNA, Your Say

• Global public survey
• 36,268 responses
• 22 countries
• 15 languages
• Representative publics

Key messages to date

• Familiarity and trust are globally associated with greater willingness to donate
• Transparency about who will benefit from data use and who is using data, and the option to withdraw are qualities of a trustworthy genomic data system.
• Influence of return of genomic data on willingness to donate varies but is significantly lower than USA in 16/21 countries
• International variability means we need attention to the transferability of policy

Middleton et al. 2020;

Milne et al. under review;

RoR manuscript in preparation

1200 people

1050 Scientifics

150 Admin

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35 participating countries

26 EU MS, 7 associated (AM, CH, GE, IL, NO, RS, TK), UK and CA

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87 beneficiaries

9 hospitals

12 research institutes

31 research funding bodies/ministries

24 universities/hospital universities

5 EU infrastructures

5 charities/foundations

EURORDIS patients

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+ 52 linked third parties

+100% associated networks

101 M€

Budget

Union contribution: 55 M€ (70% reimbursement rate)

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EJP RD in numbers

85% of

European RD research community

(directly or indirectly)

involved in EJP RD

Coordinated by

www.ejprarediseases.org

coordination@ejprarediseases.org

helpdesk@ejprarediseases.org

EUROPEAN JOINT PROGRAMME ON RARE DISEASES (EJP RD)

The EJP RD initiative has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement N°825575

Funded by the European Union

GA n°825575

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EUROPEAN JOINT PROGRAMME ON RARE DISEASES (EJP RD)

EJP RD main activities and achievements – Update March 2021

Funded by the European Union

GA n°825575

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EUROPEAN JOINT PROGRAMME ON RARE DISEASES (EJP RD)

EJP RD main activities and achievements – Update March 2021

Funded by the European Union

GA n°825575

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Participation in the GA4GH REWS:

EUROPEAN JOINT PROGRAMME ON RARE DISEASES (EJP RD)

• Participation in teleconferences
• Participation in the “Data Access Committee (DAC) Review Standards” group
• Revision of GA4GH policies

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Since March 2020

Collaboration with international experts to influence and adopt international standards for a FAIR Virtual Platform (Pillar 2)

Contribution of GA4GH REWS members to EJP RD activities:

Collaboration with international experts for the use cases related to informed consent (Pillar 2 & WP4 – Advisory Regulatory Ethics Board AREB)

Collaboration with international experts for data sharing agreements

(Coordination team, Pillar 2 & WP4 – Advisory Regulatory Ethics Board AREB)

An Informed Consent Facilitation Group has been established within EJP RD to work on the development of an informed consent form to be used by all ERN. The +1year ERKNet experience and feedbacks from the submission to 35 Ethics Committees was considered as well as other useful material.

The Data Use Ontology (DUO), the Informed Consent Ontology (ICO) and the Automatable Discovery and Access Matrix (ADA-M) were used to complete parts that would allow for human and automated access conditions and (re)use.  

Funded by the European Union

GA n°825575

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European-Canadian �Cancer Network

Principal Investigators

Bartha Maria Knoppers (McGill University)

Fruzsina Molnár-Gábor (Heidelberg Academy of Sciences and Humanities)

Pilar Nicolás (University of the Basque Country)

Academic Associates

Alexander Bernier (McGill University)

Mikel Recuero (University of the Basque Country)

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ga4gh.org

EUCANCan

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ga4gh.org

EUCANCan

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Relevant publications:

• How to fix the GDPR's frustration of global biomedical research. (2020). Science. Bartha Maria Knoppers, et. al.
• Assessment of the EU Member States’ rules on health data in the light of GDPR. (2021). European Commission. Collaboration of Fruzsina Molnár-Gábor, Pilar Nicolás Jiménez
• The international sharing of personal data concerning health in times of the COVID-19: ethical and legal issues for the impulse of a necessary cooperation. (2020). Journal of Bioethics and Law (in Spanish), University of Barcelona. Mikel Recuero Linares.
• International transfers of health research data following Schrems II: A problem in need of a solution. Alexander Bernier, et. al. [Accepted for publication]
• Health Data Identifiability in Canada and the European Union: From Risk Qualification to Risk Quantification? Alexander Bernier, Bartha Maria Knoppers [Undergoing Peer Review]
• Processing data for biomedical research: consent as a legal basis in the GDPR and its legal development in Spain and Germany (a comparative approach). Fruzsina Molnár-Gábor, Pilar Nicolás Jiménez. [Pending publication]

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ga4gh.org

Beacon API along with Search API, combined as Discovery API, allow for anonymous queries to be run safely and securely across datasets.

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Initially for a single base, returning a Yes or No response, now more complex queries and more complete response including VCF through htsgetet API

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Package of measures to mitigate against potential re-identification

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One of the original GA4GH Standards

Update of current activities for REWS (2 March 2021)

• Discoverable (anonymous queries)
• Consent
• ADAM
• Data access Committee (DAC)
• Automated
• Passport
• Secure access (AAI)
• Re-identification �(mitigation techniques paper)
• GDPR (Data Steward retains control)
• Proposal of publication to journals

Update of current activities for REWS (2 March 2021)

• Beacon v2 Schema development, additional features:
• Filters
• Ontology
• Cohorts
• Metadata & aggregated data
• Age range, phenotype, location,

disease etc.

• Phonopackets as potential response element
• Discovery API Guide for data Providers

Genomics England

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Christine Patch

ga4gh.org

Genomics England Update

The 100,000 Genomes Project laid the foundations for a thriving genomic research community

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111,232

genomes

37,224 cancer | 74,008 rare disease

Primary clinical data for

89,256

participants

Secondary data including:

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Hospital Episode Statistics | Patient Reported Outcome Measures

Mental Health Services Data Set | Uncurated SACT (chemotherapy data)

ONS mortality and cancer flagging | COVID-19 diagnoses for participants

The Genomics England research community

3,388

175

24

£40.4

researchers worldwide

successful grant applications

institutions

million awarded

Projects so far…

28

103

42

374

publications from the community, leveraging our dataset and research environment

secondary publications about the 100,000 Genomes Project, including reviews, case studies and impact assessments

further publications in review

potential publications from currently registered projects

239

163

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rare disease

cancer

cross-cutting

Genomics England

Bridging the gap between genomic healthcare and research

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We work with the NHS to deliver, scale and improve whole genome sequencing and interpretation to help clinicians diagnose, treat and prevent illnesses.

This allows us to provide rich genomic and clinical data and technology to enable researchers to make new discoveries and create more effective medicines.

Genomics England

Ethics, governance and regulatory :

100,000 Genomes Project and transition to National Genomic Research Library

• Diagnostic Discovery – returning new results to NHS generated through research, pipeline development and validation
• Return of additional findings
• Impact of COVID-19
• Recontact - for research – Genomic Medicine Service Research Collaborative is being set up to address recontact issues – a joint venture between Genomics England; NHS England and National Institute for Health Research
• Changes in consent status – Withdrawal from research, change in capacity: child to adult, loss of capacity, regaining capacity

Genomic Medicine Service

• Operationalising research consent as part of the clinical pathway – refining materials based on feedback
• National Genomic Research Library, containing two Research environments - maximising value while remaining consistent with commitments to participants

COVID-19

• Complexity of co-recruitment, where does accountability lie – a number of studies coming together to work on COVID-19. Challenges of different protocols and consent materials

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Ethics, governance and regulatory :

Genomics England

Report Back

ga4gh.org

Genetic Discrimation Observatory (GDO)

Yann Joly

Centre of Genomics and Policy, McGill University

ga4gh.org

Data Access Committee Review Standards (DACReS)

Edward Dove Vasiliki Rahimzadeh

University of Edinburgh Stanford University

Jonathan Lawson

Broad Institute

ga4gh.org

GA4GH Consent Work

Co-Chairs:

Bartha Maria Knoppers (Centre of Genomics and Policy, McGill University),

Megan Doerr (Sage Bionetworks), Susan Wallace (University of Leicester)

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Coordinator: Kristina Kekesi-Lafrance (Centre of Genomics and Policy, McGill University)

ga4gh.org

Driver Projects’ Action Items

ga4gh.org

Action Items for Driver Projects!

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• REWS Matrix by Deliverable 2020: please fill this spreadsheet to indicate your implementation of REWS’ tools.

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• What is the usual degree of modification necessary to implement REWS’ tools in your local institution/jurisdictions?

Please let us know at rews-coordinator@ga4gh.org

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• Dynamic Consent - form to fill by DPs

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ga4gh.org