Genomic data collection is accelerating in historically understudied and excluded populations. The information will fill knowledge gaps, spur medical discoveries and lead to more targeted and appropriate care; however, it comes with significant risk if ungoverned. Insufficient genomic data policies expose communities to the risk that certain actors will extract information from their population and use it for their own benefit. These risks have been realized in the past and will occur again. To address them and prompt action, the World Economic Forum collaborated with 30 global leaders to develop a forward looking, scalable policy framework and set of six ethical tensions, as well as a companion guidance document, that policy makers, business leaders, researchers, community members and others can leverage and modify for use in a local context.
The paper states
The Leapfrogging with Precision Medicine Project, which is part of the Precision Medicine Portfolio of the World Economic Forum, focuses on co- designing and piloting policy, governance and business frameworks that enable healthcare leaders in emerging economies to prepare for and integrate precision medicine approaches into their health ecosystems. Leapfrogging with Genomic Data is one workstream within this project.
Genomic and genetic data – the digitized record of a person’s DNA – is an especially sensitive form of human health data, and its collection and use support the scientific research and improved diagnostics and treatments that underscore precision medicine. Genomic and genetic data collection is accelerating, including in low- and middle-income countries (LMICs) and emerging economies, to fill critical gaps in the understanding of populations not traditionally included in research and to support more precise clinical care. Without future-looking policies that address genomic and genetic data collection and use in research, countries face two main risks: 1) their data does not inform scientific research that may lead to more population-relevant screening guidelines, diagnostics and treatments; or 2) their data may be used by and primarily benefit outside parties. Without future-looking policies that address genomic and genetic data collection and use in clinical care, countries may inadvertently slow adoption of advancing healthcare approaches that can improve patient care pathways.
This white paper aims to begin addressing the need for new or modified policies by proposing a genomic data policy framework and corresponding set of ethical tensions for policy-makers, business leaders, researchers, patients and others to consider before taking actions that affect or involve the collection and use of human genomic and genetic data for research and clinical use. Generally, genomics refers to all genes and their interrelationships and genetics focuses on a single or set of genes. The distinction is important and nuanced in several fields; however, for the purposes of this paper, the authors will refer to genomics when our thinking applies to data about all or some genes.
This paper is written from a “future of healthcare” perspective, and with a focus on LMICs and emerging economies. This is not to imply that there should be a different standard among countries, but to ensure consideration of the differing perspectives and needs informed by these countries’ diverse historical, societal and cultural contexts.
This work also aims to keep the interests of research participants and patients at the forefront of policy and ethical considerations, and we hope that is reflected in the following pages. Advancement in genomics would not be possible without those who provide their data. Inclusion of citizens, patients or community representatives in the discussion and development of approaches to genomic data collection and use would likely prevent numerous blind spots, conflicts and sources of mistrust, while fostering understanding and better outcomes.
The areas of focus for the policy framework are four foundational elements germane to human genomic data collection and use: consent, data privacy, data access and benefit sharing. These are followed in the paper by six ethical tensions that underpin these elements. The paper focuses on principles and guidelines, not the implementation or application of these elements. As such, topics including data security and infrastructure, while critically important to data privacy and access, are not addressed here. Gene-editing research and testing is out of scope, too. Forms of health data beyond human genomic data are also out of scope for this paper, though a future document may consider expanding the ideas to other -omic data. Finally, this document focuses on activity within the medical and scientific establishment and not the direct-to-consumer genetic testing market or non-healthcare fields such as law enforcement or surveillance, though we have drawn from developments in those spaces.
How to use
At its core, this white paper is intended to provide a basis for discussion and decision-making primarily by policy-makers, but also by researchers, clinicians, patients and business leaders who engage in the collection and use of genomic data.
This white paper begins with a high-level, forward- looking, scalable policy framework. In this section, core terms are defined, and key policy principles are outlined. The goal of the policy framework is to set forth principles that may inform the development of corresponding policies, regulations or guidance, modified as appropriate for local context.
The next section explores a set of six ethical tensions that permeate the four foundational elements explored in the policy framework. Corresponding ethical questions will help facilitate discussion and prompt awareness of gaps or barriers when developing a genomic data policy that attends to ethical concerns. Working through the questions will help in projecting how various people who participate in genomic data collection and use may grapple with ethical issues before, during and after data collection, and in carrying ethical considerations into policy, research design and clinical applications.
The policy framework and ethical tensions are meant to be complementary. Policy should reflect a society’s ethical positions on issues, and too often the two are divorced until a conflict arises.
The framework and tensions reflect a distillation of critical elements of genomic data policy and ethics. As such, the tools in this document are presented as a starting point to develop or refine a set of guiding principles and ethical standards as you craft or revise genomic data policy and regulation, or best practices in your government, organization or institution.
They are intended for customization and use in a local context.
We suggest exploring the framework, ethical tensions and questions through multistakeholder working sessions. Including stakeholders – research participants, patients, researchers, physicians, nurses, business leaders and others – who are affected differently by genomic data collection and use will expose issues that may otherwise be overlooked and uneven power dynamics that often complicate ethical positions and corresponding actions. A multistakeholder approach will help cultivate a comprehensive understanding of policy principles and ethical dynamics and create a sound path forward within your jurisdiction. A companion ethical tensions guidance document, a mini-guide to running scenario vignette-based workshops and a set of sample scenario vignettes are available to guide these activities (see Appendix).
Methodology
The content of this white paper was developed through desk research, expert interviews and multistakeholder workshops. Desk research began by collating a Genomic Data Policy Resource Guide, which offers a review of prevailing laws, regulations, guidelines and commentary addressing consent, data privacy, data access and benefit sharing of health and genomic data, drawn from General Data Protection Regulation (GDPR), Health Insurance Portability and Accountability Act (HIPAA), Genetic Information Nondiscrimination Act (GINA) documents, as well as organizations including the Global Alliance for Genomics and Health (GA4GH), Human Heredity and Health in Africa (H3Africa), the Organisation for Economic Co-operation and Development (OECD), the World Health Organization (WHO) and other sources. Additional research included the collection and review of real-world examples of tensions in genomics and genetics, corresponding expert commentary, professional organization guidelines and other existing frameworks for data collection and use.
A World Economic Forum Leapfrogging with Genomic Data workshop in San Francisco, USA, in July 2019 used various scenario vignettes, representing opportunities and risks germane to LMICs, to explore and validate the four foundational elements of genomic data policies discussed below: consent, data privacy, data access and benefit sharing. Each vignette focused on one of the four elements of genomic data policy and presented fictionalized short stories oriented five to 10 years in the future. The vignettes included two main personas, often representing perspectives of the Global North and South. The personas helped illuminate the ethical tensions underpinning each policy issue. Thirty experts in policy, industry, research and civil society from Africa, the Middle East, Latin America, Asia and North America worked through these vignettes in small groups, with each group adopting one of the personas as they identified the cause of the conflict, underlying considerations and possible solutions. Groups then returned to plenary to address the group that adopted the counter persona. These presentations offered an opportunity to question each other and discuss conflicts from a solution-oriented perspective.
A World Economic Forum Roundtable on Ethical Tensions, held in November 2019 with a select group of experts in bioethics, helped refine the ethical tensions informed by the July scenario vignette workshop and develop intuitive and accessible tools for the application of these tensions to policy development. Additionally, Elissa Prichep co-led two events: 1) the Genomic Data Policy Consultative Session with the Rwanda Ministry of Health; and 2) the Roundtable on Governance of Human Genome Sequencing with the Dubai Future Foundation to begin transitioning this framework to government officials and translating it into policy approaches within a local context.
Throughout, the authors conducted dozens of interviews with thought leaders in government, academia, research, medicine, civil society and industry who are located in and working across emerging economies. Those interviewed educated us, answered our questions, provided feedback on our work and expanded the expert network engaged in this project.
