Regulatory & Ethics Work Stream (REWS) Road Map 2025-2026
Study Groups
Deliverable Name/Topic: Genetic Discrimination/Group Harms
Start date: May 31, 2022
Lead: Yann Joly
Description: Genetic discrimination (GD) is a multifaceted concern that, without adequate regulation, can infringe upon human rights and deter people from undergoing genetic testing or participating in genomic research. While GD was initially concentrated in the life and health insurance sectors, it has since expanded into education, housing, sports, and other areas. Although countries worldwide have implemented diverse legal frameworks to address the issue, discrimination continues to affect both individuals and groups.
Aim: This group works in collaboration with the Genetic Discrimination Observatory (GDO) to better understand the meaning and implications of genetic discrimination and to develop policy-focused solutions.
Deliverable Name/Topic: Clinical Data Sharing and Consent
Start date: Mar 2022
Co-Leads: Yann Joly, Juliann Savatt
Description: In the course of clinical genetics testing, there are often requests to clinical laboratories for patient information to be shared without explicit consent between labs or with expert curation efforts. While the sharing of individual patient data may help with variant classification and improve patient care, there is still uncertainty over the kinds of data and level of detail that can be shared without explicit consent from patients.
Aim: This group aims to understand current institutional practices and opinions of researchers on clinical dating sharing, in order to develop best practice standards that can be used by clinicians and labs in their practice.
Deliverable Name/Topic: Pathogen genomic data sharing (previously Pandemic Preparedness)
Start date: Jun 2023
Co-leads: Dianne Nicol, Ashwin Budden, Diya Uberoi, Anja Bedeker
Description: Efficient and equitable sharing of pathogen genetic sequence data and pandemic countermeasures is critical in public health emergencies, like the COVID-19 pandemic. Yet significant ethical and regulatory challenges remain, as stakeholders grapple with how to balance the Global North's increasing demand for rapid, open-source pathogen data access with the Global South's concerns about protecting genetic data sovereignty. This persistent tension undermines global pandemic preparedness and response efforts and highlights the urgent need for innovative solutions that can promote equity.
Aim: To bridge this divide, this group is developing recommendations that leverage GA4GH's technical standards, including potential meta-data tagging standards for tracking and tracing provenance, to balance demands for data sovereignty rights and rapid data access.
Deliverable Name/Topic: Measuring the uptake of ethics and data governance policies in genomics (Metrics)
Start date: Jul 25, 2023
Co-leads: Yann Joly, Dianne Nicol
Description: Research projects on the ethical, legal, and social implications (ELSI) of genomics and related health policy issues require effective tools to measure their uptake and impact. Identifying the most impactful ELSI and policy research can guide funders in resource distribution and help researchers highlight their work's importance to stakeholders. However, assessing this impact is challenging because potential indicators have not been comprehensively analyzed or unified into one framework. A systematic and efficient tool that can evaluate the uptake of ELSI and health policy research is thus crucial to address these challenges and ensure proper assessment of research influence.
Aim: This group aims to identify impact indicators suitable for evaluating the uptake of REWS’ and other bioethics and health policy documents, and then use these indicators to develop a comprehensive tool for evaluating the impact of ELSI and health policy research within a unified framework.
Deliverable Name/Topic: Newborn Whole Genome Screening (gNBSeq)
Start date: Feb 7, 2022
Co-leads: Anna Lewis, Yvonne Bombard
Description: Whole Genome Sequencing (WGS) for newborns is an emerging practice that is being piloted across many jurisdictions as a part of existing newborn screening programs. While the practice offers the promise to diagnose newborns with detectable diseases and develop personalized treatment plans, the use of WGS for newborns still raises significant legal and ethical concerns.
Aim: This group seeks to respond to the increasing national interest in newborn whole genome sequencing, by identifying questions researchers and organizations should address when considering whether or not to pursue newborn whole genome sequencing. Specifically the group will analyze existing international regulatory and ethical decision points around WGS to develop best practice standards in the area.
Deliverable Name/Topic: Generative AI for Genomic Data Sharing
Start date: Oct 22, 2023
Co-leads: Ma’n Zawati, Marc Fiume
Description: The rapid rise of chatbots presents promising opportunities to streamline access procedures and enhance data querying. Conversational AI capabilities, powered by generative large language models, have the potential to facilitate large-scale genomic data sharing by integrating multiple open-access datasets available online. However, to ensure the responsible deployment of this technology, clear guidance is needed on how these tools should be developed, implemented, and governed.
Aim: This group seeks to identify key themes and develop guidance points on the responsible use of conversational AI in the context of large-scale open-access genomic databases. As a future step, these guidance points will be pilot-tested using an established AI tool and subsequently refined to inform the development of a resource that can benefit the GA4GH community.
Deliverable Name/Topic: Data Visiting
Start date: May 24, 2024
Co-leads: Donrich Thaldar, Yann Joly
Description: From differences in data privacy regulations to concerns around security, a range of factors can impede the sharing of genomic data across borders. To address these concerns, a number of institutions have championed data visiting, a pivotal innovation in genomics research that promises improved data management, improved data security, and streamlined legal compliance. Yet, despite its benefits, many of the legal intricacies that plague traditional data sharing, remain pertinent with Data visiting.
Aim: This group will evaluate the legal challenges associated with cross-border data visiting to develop a model data visiting agreement and guidelines for its national implementation.
Deliverable Name/Topic: Global ELSI Group: Building Global Capacity for Genomic Research
Start date: Oct 10, 2023
Co-leads: Diya Uberoi, Claudia Gonzaga-Jauregui
Description: Worldwide, governments, funding bodies, institutions, and publishers have developed data infrastructures, policies, and incentives to facilitate the global sharing of genomic research. While these efforts have enabled genomic researchers and health practitioners from low-and middle-income countries (LMICs) to share their data more widely, many existing policies — developed by and for highly competitive economies — have been shown to deter researchers from engaging in data sharing, particularly those from low-resource settings. This creates a paradox where the very systems designed to promote sharing inadvertently exclude those who could benefit most. For the advances of genomic research to benefit everyone equally, it is essential that genomic researchers from LMICs both have access to and contribute to tools that address and navigate the legal and ethical challenges of genomic data sharing.
Aim: This group aims to collaborate with genomic researchers from LMICs to develop contextually relevant resources that can be implemented and used in regions globally. Starting with the example of GA4GH's model consent clauses in genomic research, the group will be developing recommendations for how these clauses could be tailored to better address the research context in Africa.
Deliverable Name/Topic: Data Access Committee Review Standards (DACReS)
Start date: July 2021
Co-leads: Vasiliki Rahimzadeh, Jonathan Lawson
Description. Data sharing has the potential to accelerate scientific discoveries and improve medical care. However, it is also important to prevent data misuse and exploitation. Data access committees (DACs) can help manage the data access process by reviewing requests and deciding whether or not to grant access. To ensure that data access requests are met with consistent review criteria, the GA4GH Regulatory & Ethics Work Stream (REWS) developed the Data Access Committee Review Standards (DACReS) Toolkit.
Aim: To develop consistent and effective policy and practice for data access committees that manage access to human genomic research and associated clinical data.
Forums
Deliverable Name/Topic: Public Attitudes for Genomics and Policy
Start date: Apr 28, 2022
Lead: Dianne Nicol
Description: People have different feelings around how their genomic information is used and shared. This group aims to capture public attitudes towards donation, storage, use and sharing of their genomic data.
Aim: The group invites blog contributions from authors of studies exploring citizens' perspectives and concerns around genomic data storage, use and sharing, with the aim of communicating these findings to policy influencers and to society at large.
Deliverable Name/Topic: Health Data Sharing, Privacy and Regulatory Forum (previously GDPR Forum)
Start date: Sep 4, 2018
Co-Leads: Adrian Thorogood, Fruzsina Molnár-Gábor (Co-editors of the Forum)
Description: Jurisdictions worldwide are establishing or strengthening data protection frameworks that impact the governance of genomic and health-related data. These laws require researchers, research institutions, companies, and health care institutions to protect data subjects' rights to privacy, creating barriers to data sharing and re-use, particularly across borders. International data sharing initiatives also navigate multiple overlapping regulatory frameworks. If the genomic community is to navigate these regulations successfully, greater clarity is needed on how these evolving laws affect data sharing.
Aim: This Forum publishes short and topical blog posts on the GA4GH website for the genomics community, exploring data-related regulations around the world and their impact on data sharing. The Forum consists of an international team of data protection and legal experts who solicit, contribute and review blog posts.