1、White Paper Genomic Data Policy Framework and Ethical Tensions June 2020 World Economic Forum 9193 route de la Capite CH1223 Cologny/Geneva Switzerland Tel.: +41 (0)22 869 1212 Fax: +41 (0)22 786 2744 Email: contactweforum.org www.weforum.org 2020 World Economic Forum. All rights reserved. No part o

2、f this publication may be reproduced or transmitted in any form or by any means, including photocopying and recording, or by any information storage and retrieval system. This report has been published by the World Economic Forum as a contribution to a project, insight area or interaction. The findi

3、ngs, interpretations and conclusions expressed herein are a result of a collaborative process facilitated and endorsed by the World Economic Forum, but whose results do not necessarily represent the views of the World Economic Forum, nor the entirety of its Members, Partners or other stakeholders. 3

4、Genomic Data Policy Framework and Ethical Tensions Contents Foreword Introduction Policy framework Framework structure and components Policy framework guiding principles Application of the framework Ethical tensions Overview Six ethical tensions Next steps Conclusion Appendix Contributors References

5、 Endnotes 05 06 09 09 10 12 13 13 14 18 18 19 20 22 26 4Genomic Data Policy Framework and Ethical Tensions 5Genomic Data Policy Framework and Ethical Tensions Foreword Many scientists, authors and thought leaders have posited that we are in the “Age of the Genome”. Our ability to understand humans a

6、t the very basic level the level of our genes, or the units of material that pass along instructions from one generation to the next allows us to take a more targeted and personalized approach to screening, preventing, diagnosing and treating disease. Researchers and clinicians are, for example, str

7、uggling to determine whether genetic factors play into the severity of a persons response to SARS-CoV-2 exposure and infection during the COVID-19 pandemic that started in early 2020. The expectations are high: As more people provide their genetic and genomic information to researchers and clinician

8、s, we do so expecting that our highly personal information will translate into advances in health and healthcare not just for individual patients but for entire populations. Genetic and genomic information is sensitive and has implications not just for the individual who provided it but, based on la

9、ws of heredity, for the persons relatives and broader ancestry. Genetic and genomic data also embodies the transformation of biological (physical) materials to digital (virtual) information, allowing this deeply personal information to be transmitted quickly and widely via todays information communi

10、cation technologies. This is well illustrated by the incorporation of advances in computational tools and digital communication platforms to enable rapid and cross-border genomic data sharing, which is critical in responding to public health emergencies. The collection of genetic and genomic informa

11、tion from individuals and populations should be approached with care and humility. We have observed in the past several years increased efforts to collect such information from understudied populations, in places with difficult histories of researchers or outsiders entering the community. We are ver

12、y hopeful that the age of the genome will ultimately benefit many patients and patient populations globally, provided that communities are empowered to develop, test and refine appropriate ethical and cultural safeguards. Many communities are taking leadership positions to ensure that they are able

13、to participate on their own terms in the global genomics age, and the World Economic Forum is grateful to contribute this Genomic Data Policy Framework and Ethical Tensions white paper to a growing collection of resources for policy-makers, business leaders, academics and others navigating this path

14、. It is our hope that this papers “future of healthcare” perspective will help practitioners explore new and anticipated legal, ethical and privacy issues raised by genomic data, with practical resources and guidance as part of the Forums Data for Common Purpose Initiative that can be tested and ref

15、ined over time. Genya Dana, Head of Precision Medicine, World Economic Forum Arnaud Bernaert, Head of Health and Healthcare, World Economic Forum 6Genomic Data Policy Framework and Ethical Tensions Introduction The Leapfrogging with Precision Medicine Project, which is part of the Precision Medicine

16、 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

17、 workstream within this project. Genomic and genetic data the digitized record of a persons 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 gen

18、etic data collection is accelerating, including in low- and middle-income countries (LMICs) and emerging economies,1 to fill critical gaps in the understanding of populations not traditionally included in research2 and to support more precise clinical care. Without future-looking policies that addre

19、ss 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 parti

20、es. 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 p

21、olicies 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 clin

22、ical 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 a

23、bout 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 t

24、hese 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 possibl

25、e 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 bett

26、er 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

27、 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

28、 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-heal

29、thcare 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 busi

30、ness 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

31、 may inform the development of corresponding policies, regulations or guidance, modified as appropriate for local context. 7Genomic Data Policy Framework and Ethical Tensions The next section explores a set of six ethical tensions that permeate the four foundational elements explored in the policy f

32、ramework. 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 collecti

33、on 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 societys ethical positi

34、ons 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

35、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 multistakehol

36、der 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 complica

37、te 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 sc

38、enario 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

39、 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 Accountab

40、ility 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 O

41、rganization (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 F

42、orum 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

43、 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 help

44、ed 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 i

45、dentified 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.

46、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 deve

47、lopment. 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 8Genomic Data Policy Framework and Ethical Tensions begin tr

48、ansitioning 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 acro

49、ss emerging economies. Those interviewed educated us, answered our questions, provided feedback on our work and expanded the expert network engaged in this project. 9Genomic Data Policy Framework and Ethical Tensions Framework structure and components This white paper aims to address the need to develop new or modify existing policies and approaches regarding the collection and use of genomic data by proposing a policy framework and a corresponding set of ethical tensions focused on four foundational elements: consent, data privacy, data access and benef