Finalised REWS 2022/2023 Roadmap

Previous Version

Motivation and Mandate

The motivation and mandate of this revised Regulatory and Ethics Work-Stream (REWS) roadmap builds upon the existing one set out in 2020-21. In summary, that roadmap outlined the REWS’ agenda to ‘activate’ the internationally-recognised human right of everyone to benefit from the progress of science and its applications.^[1] It set out to primarily do so by addressing genomic data sharing issues through appropriate data governance policies that can apply internationally.

Since the previous roadmap was established in 2020, the REWS have managed to complete the vast majority of the proposed deliverables, taking us one step closer to this goal.^[2] This includes outputs such as the ‘Return of Results Policy,’ ‘Machine Readable Consent Clauses’ and the ‘Data Access Committee Review Standards Policy.’ Further published REWS deliverables can be found here. 

Proposal

In order to promote and build on this motivation and mandate, the REWS roadmap for 2022-23 will continue to develop ongoing and proposed deliverables as well as introduce new tools and policies which can address emerging regulatory and ethical issues in the genomics field. The text below outlines the continuing, new, proposed, postponed and completed groups.

Existing/Continuing Groups and Deliverables:

Data Access Committee Review Standards (DACReS) Toolkit

The DACReS Guiding Principles and Procedural Standards Policy was finalised in 2021. The group aims to develop an online, evidence-based Toolkit (“DACReS Toolkit”). The resulting Toolkit will be integrated into the Data Use Ontology’s and pilot tested within multiple DAC operations at various institutions.

Currently: the DACReS work group is empirically investigating challenges and opportunities within Data Access Committees (DAC) via surveys and interviews.

Genetic Discrimination (GD)

The informational document ‘Genetic Discrimination:  Implications for Data Sharing Projects’ (GeDI) was recently published as the first GD deliverable. Further outputs, in collaboration with the Genetic Discrimination Observatory (GDO), include the continuation of their ongoing Delphi study, intended to identify elements of a model genetic non-discrimination policy. The group also plans on addressing/exploring different forms of genetic discrimination, events of genetic discrimination/stigmatization at the level of population groups and also positive genetic discrimination. 

Currently: The group are working on developing an understanding of the many meanings and definitions of genetic discrimination in order to establish their own.

General Data Protection Regulation (GDPR) Forum 

The GDPR forum publishes blog posts providing information about GDPR in the genomics field. This work is ongoing and the group will continue to publish in order to provide better clarity and understanding in this complex area of law.

New Groups:

The following groups were proposed by REWS members to be included on the 2022/2023 Roadmap. The reasoning behind why these will form part of the 2022/2023 roadmap can be found in the links below. Each link will take you to a questionnaire that outlines information about the group, such as project champions, funding and support. These documents also include a link to a project brief for each, which outlines the scope and proposed deliverables/outputs.

Diversity in Datasets

This group aims to address the lack of diversity within genomic research: from funding, workforce, samples, categorisation, analysis, data-sharing to publication. We are hoping to investigate the meaning of ‘diversity’ in order to define what ‘diversity’ means in our context. Then, we will develop a policy that addresses how to promote diversity within genomic research at each stage of the research process from an international perspective.

Currently: The group is discussing the relevant issues in this space and will shortly be identifying key policy points to include in their output.

Ethical Provenance Toolkit

The Ethical Provenance Toolkit subgroup was set up to identify gaps in the tools that make up the biomedical data lifecycle and promote consistency and harmonisation between institutes conducting genomic research.

Currently: Over the summer the group have been contextualising their project, working on initial tools and applying for a grant to support the work.

Public Attitudes for Genomic Policy  

This group is developing a series of blogs translating the findings of Your DNA Your Say into useful outputs for policymakers and other researchers. The group hopes to touch upon dual trust and trustworthiness, return of results and genetic exceptionalism, among others. Each blog may also have a series of ‘spin off’ blogs that delve into some of the issues in more depth, using broader public attitudes research.

Currently: The Dual Trust and Trustworthiness blog has been drafted and the Return of Results Blog is underway.  

Clinical Data Sharing and Consent

This group aims to provide clarity on what clinical (and possibly research) data can be shared and in what circumstances without explicit consent from participants and patients in order to inform variant classification.

Currently: The group is reviewing the literature in this space before deciding on output they want to create.

Newborn Whole Genome Sequencing (Beginning Early 2023)

This group plans to explore the ethical and regulatory landscape relating to newborn whole genome sequencing and create a useful tool for the international community. Specifics are yet to be decided prior to our beginning in 2023.

Postponed Groups:

These groups were proposed as new 2022/2023 roadmap items by REWS members but have been postponed for the time being until other work has been completed.

REWS Diversity

The REWS Diversity group was looking at how we can embed Equity, Diversity and Inclusion (EDI) into the GA4GH product development process. A working definition of EDI, for this purpose,  has been created as their first deliverable. The group is currently looking for new project champions to take the ongoing work forward and it may be merged with GA4GH’s Equity Diversity and Inclusion Group.

Artificial Intelligence/Machine Learning (AI/ML) and Bias

Much discussion identified within initial conversations of this group was regarding the need for diverse/representative datasets to ensure the AI/ML did not perpetuate bias. As this core need for diversity in datasets, including transparency and operalisation also applies to the wider genomic research field it has been decided to merge this group with the ‘Diversity in Datasets’ group. There may then be opportunity for this group to be reinstated in order to tackle other AI/ML and bias issues once this groundwork has been established. Questions surrounding automation have also been integrated into the DACReS and Ethical Provenance work.

Benefit Sharing

Other work in this area is ongoing. For example, Public Policy Projects in the UK is currently undertaking its Global Genomics’ roundtable on the issue of equity and access in international genomic research and data sharing. We have decided to postpone a REWS project in this area due to similar intentions so we can build on existing work, rather than duplicate it. However, questions around benefit sharing will be touched upon in the ‘diversity in datasets’ group that is currently underway.

Past/Completed Groups

Consent Toolkit (now completed)

The consent group was set up to create sampled language of consent clauses for institutions and clinicians to use when drafting consent protocols for genomic research, rare diseases, pediatric or familial research, biobanking and population studies or clinical whole genome sequencing.