Roundtable on Genomics and Precision Health: 2020 Annual Report (2021)

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About the Roundtable The Roundtable on Genomics and Precision Health brings together leaders from government, academia, industry, foundations, associations, patient communities, and other stakeholder groups to meet and discuss global issues surrounding the translation of genomics and genetics research findings into medicine, public health, education, and policy. The primary purpose of the Roundtable is to foster dialogue across sectors and among interested parties and institutions, and to illuminate and scrutinize critical scientific and policy issues where Roundtable engagement and input will help further the field. The Roundtable membership identifies scientific and policy issues where discussion and collaboration will help enable the translation of genomics into health care applications. Specific issues and agenda topics are determined by the Roundtable members, and span a broad range of areas relevant to the translation process. Current areas of emphasis are described in greater detail below and include innovations in the discovery and development of precision therapeutics and technologies, clinical implementation of genomic medicine, inequities in the research database, workforce, and access to genetic services, and fostering a dialogue across stakeholders within genomics and precision health. To achieve its objectives, the Roundtable conducts structured discussions, meetings, public workshops, enters into information-gathering activities, develops authored viewpoints and perspectives, organizes and supports collaboratives, and publishes workshop proceedings. nationalacademies.org/GenomicsRT 22020 Annual Report | 1 

Strategic Plan & Areas of Interest During 2020, the members and staff of the Roundtable on Genomics and Precision Health committed to the development of a new multi-stakeholder strategic plan for their work. Roundtable members considered exciting developments including innovative partnerships and advances in implementation, and factored in emerging chal- lenges such as inequities in genomics research and access to technologies. Realizing the full potential of health for all through genomics and VISION precision health. Bring together diverse voices to encourage innovation and MISSION actions that foster the wide adoption of and equitable access to the benefits of genomics and precision health. As part of this new strategic plan, the work of the Roundtable will center around four priority areas: Innova- tion, Dialogue, Equity, and Adoption (IDEA). The Steering group will continue to oversee the progress of all of the working groups in achieving the vision of the Roundtable. The Innovation group explores competing barriers and facilitators of innovation for genomics based diagnostics, risk assessment tools, and therapies, and leverages INNOVATION opportunities to learn from and promote innovative approaches that can accelerate commercialization and integration to drive impact of genomics on precision health. Currently, the group is focusing on lessons learned from case studies of successful innovation that could help in the development of an innovation “playbook.” The Shaping the Dialogue working group accelerates the dissemination of actionable DIALOGUE knowledge to shape practice and increase public awareness. Currently, the group is focusing on developing materials to promote the new strategic plan and working group projects as they begin to implement their plans for 2021. The Equity group fosters action related to underrepresentation and inequities in genomic research, workforce, and access to genomic services, and examines opportunities to improve the processes and practices that the Roundtable employs to achieve its mission. EQUITY Currently, the group is focusing on developing educational sessions for members to increase awareness of the current challenges and opportunities for increasing diversity of the genomic workforce and to develop a deeper understanding of structural racism in the fields of medicine and genetics/genomics. The Adoption group’s goal is to cultivate evidence-based practices across the health care and public health systems for adoption of genomics and precision health, and ADOPTION draws attention to gaps in adoption and their root cases in an effort to highlight potential solutions. Currently, the group is focusing on learning from health systems that have implemented genomics about barriers and facilitators of adoption as well as utilization of genomics. The Steering group provides strategic input and coordination across working groups and oversees progress toward the Roundtable’s vision and mission. Currently the group STEERING GROUP is focusing on ways to monitor and evaluate internal processes and external impacts of the Roundtable’s work. Download the Strategic Plan here. 2020 Annual Report | 2 

PUBLIC WORKSHOPS & MEETINGS The Role of Digital Health Technologies in Drug Development: A Workshop PUBLICATIONS March 24, 2020 This workshop, co-hosted with the Forum on Drug Discovery, Development, and The publication of the Translation, discussed challenges and opportunities in using digital health proceedings can be found technologies to improve the probability of success in drug development. here. Workshop participants considered key components for an evidence-based framework for applying digital health technologies towards drug research and development (R&D). Discussions at the workshop highlighted critical barriers or Released: August 28, 2020 “pain points” along the drug R&D lifecycle that digital health technologies may be uniquely suited to address as well as lessons learned from currently validated digital health technology applications that could be generalizable for newer digital health technologies. Exploring the Current Landscape of Consumer Genomics: A Workshop The publication of the proceedings can be found October 29, 2019 here. This workshop looked at the current landscape of consumer genomics and implications for how genetic test information is used or may be used in research and clinical care. Released: March 19, 2020 Meetings March 25, 2020 July 1, 2020 The Roundtable debriefed following the workshop on digital The Roundtable met virtually with the Standing Committee on health technologies in drug development and explored the Emerging Infectious Diseases and 21st Century Health Threats decision-making process for identifying and integrating digital to explore innovative approaches for studying host (human) health technologies in health systems with invited leaders genetic and genomic factors associated with susceptibility from those health systems. Speakers from the LawSeq Project and severity related to COVID-19. Discussion at the meeting briefed Roundtable members on the work that the group is examined scientific challenges being encountered in genomics doing around privacy, regulation, and data sharing. Strategic research and opportunities for data collection and sharing. planning activities were initiated with the full membership. November 10 & 12, 2020 June 22-23, 2020 Roundtable members adopted the new strategic plan and The Roundtable began to refine their mission, vision, and began implementing it and discussing alignment of the guiding principles over the next 3-5 years. Members discussed Roundtable’s plans with several groups in the genomics and priority areas to pursue as part of the Roundtable’s new precision health community. Working groups held breakout strategic plan including equity, adoption, innovation, and sessions to develop goals and strategic priorities that could shaping policy and dialogue. be pursued over the course of the following year. Members learned from invited speakers on issues of equity, diversity, and systemic racism related to genomics and precision health. 2020 Annual Report | 3 

Roundtable Membership Geoffrey S. Ginsburg, M.D., Ph.D. (Co-Chair) Sekar Kathiresan, M.D. Nadeem Sarwar, Ph.D. Duke University Massachusetts General Hospital Eisai Inc. Michelle Penny, Ph.D. (Co-Chair) Muin Khoury, M.D., Ph.D. Joan A. Scott, M.S., C.G.C. Goldfinch Bio Centers for Disease Control and Health Resources and Services Administration Prevention Naomi Aronson, Ph.D. Sam Shekar, M.D., M.P.H. Blue Cross and Blue Shield Association David Ledbetter, Ph.D. American College of Preventive Medicine Geisinger Aris Baras, M.B.A. Nonniekaye Shelburne, C.R.N.P., M.S., A.O.C.N. Regeneron Pharmaceuticals Charles Lee, Ph.D., FACMG National Cancer Institute The Jackson Laboratory for Genomic Vence Bonham, Jr., J.D. Medicine Nikoletta Sidiropoulos, M.D. National Human Genome Research The University of Vermont Health Network Institute Thomas Lehner, Ph.D., M.P.H. Medical Group National Institute of Mental Health Bernice Coleman, Ph.D., ACNP-BC, FAHA, Katherine Johansen Taber, Ph.D. FAAN. Debra Leonard, M.D., Ph.D. Myriad Women’s Health American Academy of Nursing College of American Pathologists Ryan Taft, Ph.D. Robert B. Darnell, M.D., Ph.D. James Lu, M.D., Ph.D. Illumina The Rockefeller University Helix Jacquelyn Taylor, Ph.D. Stephanie Devaney, Ph.D., Mona Miller, M.P.P. Columbia University All of Us Research Program American Society of Human Genetics Sharon F. Terry, M.A. W. Gregory Feero, M.D., Ph.D. Jennifer Moser, Ph.D. Genetic Alliance JAMA Department of Veterans Affairs Joyce Tung, Ph.D. Caroline Fox, M.D., Maximillian Muenke, M.D., FACMG, 23andMe Merck & Co. American College of Medical Genetics and Genomics Jameson Voss, M.D., M.P.H. Jennifer Goldsack, M.Chem., M.A., M.B.A. Air Force Medical Support Agency Digital Medicine Society (DiMe) Susan E. Old, Ph.D. National Institute of Nursing Research Catherine A. Wicklund, M.S., C.G.C. Jill Hagenkord, M.D., FCAP National Society of Genetic Counselors Optum Genomics Anna Pettersson, Ph.D. Pfizer Inc. Huntington F. Willard, Ph.D. Richard Hodes, M.D. Genome Medical National Institute on Aging Victoria M. Pratt, Ph.D., FACMG Association for Molecular Pathology Sarah Wordsworth, Ph.D. Mira Irons, M.D. University of Oxford American Medical Association Murray Ross, Ph.D. Kaiser Foundation Health Plan, Inc. Alicia Zhou, Ph.D. Praduman Jain, M.S. Color Genomics Vibrent Health Wendy Rubinstein, Ph.D. U.S. Food and Drug Administration Sally John, Ph.D., Biogen (AS OF DECEMBER 2020) 2020 Annual Report | 4 

Roundtable Sponsors 23andMe, Inc. The Jackson Laboratory (JAX) American Academy of Nursing Janssen Research and Development, LLC American College of Medical Genetics and Genomics Kaiser Foundation Health Plan, Inc. American Medical Association Merck & Co., Inc. American Society of Human Genetics Myriad Women’s Health Association for Molecular Pathology National Cancer Institute Biogen National Human Genome Research Institute Blue Cross and Blue Shield Association National Institute of Mental Health College of American Pathologists National Institute of Nursing Research Color Genomics National Institute on Aging Department of Veterans Affairs National Institutes of Health All of Us Research Program Eisai Inc. National Institutes of Health Office of Disease Prevention Geisinger National Society of Genetic Counselors Genosity Pfizer Inc. Health Resources and Services Administration Regeneron Pharmaceuticals Helix United States Air Force Medical Service Illumina The University of Vermont Health Network Medical Group Vibrent Health Associations, 36% 28% Government nonprofits, and health systems ROUNDTABLE SPONSOR REPRESENTATION 36% Industry 2020 Annual Report | 5 

Roundtable Timeline 2007 2012 November 20: Meeting 27 July 11−12: Meeting 1 March 21: New Paradigms in Drug Discovery: How 2016 Genomic Data Are Being Used to Revolutionize December 4: Diffusion and Use of Genomic the Drug Discovery and Development Process March 22: Deriving Drug Discovery Value from Innovations in Health and Medicine Workshop Workshop Large-Scale Genetic Bioresources Workshop December 5: Meeting 2 March 23: Meeting 28 March 22: Meeting 16 2008 May 24: Evidence for Clinical Utility of Molecular July 19-20: Meeting 29 Diagnostics in Oncology Workshop November 9: Meeting 30 April 1−2: Meeting 3 July 17−18: Assessing the Economics of Genomic July 28: Innovations in Service Delivery in the Age Medicine Workshop 2017 of Genomics Workshop July 18: Meeting 17 March 8: Enabling Precision Medicine: The Role of July 29: Meeting 4 October 4−5: Sharing Clinical Research Data Genetics in Clinical Drug Development Workshop October 6−7: Meeting 5 Workshop March 9: Meeting 31 2009 December 3: Improving the Efficiency and July 17-18: Meeting 32 Effectiveness of Genomic Science Translation November 1: Implementing and Evaluating February 12: Systems for Research and Evaluation Workshop Genomic Screening Programs in Health Care for Translating Genome-Based Discoveries for December 4: Meeting 18 Systems Workshop Health Workshop 2013 November 2: Meeting 33 February 13: Meeting 6 June 9−11: Meeting 7 February 27: Refining Processes for the Co- 2018 August 31-September 1: Direct-to-Consumer Development of Genome-Based Therapeutics and March 20: Meeting 34 Genetic Testing Workshop Companion Diagnostic Tests Workshop June 27: Understanding Disparities in Access to November 16−17: Meeting 8 February 28: Meeting 19 Genomic Medicine Workshop June 5: Conflict of Interest and Medical Innovation: 2010 June 28: Meeting 35 Ensuring Integrity While Facilitating Innovation in Medical Research Workshop October 5: Virtual Meeting on Return of Research March 22: The Value of Genetic and Genomic Results Technologies Workshop June 24: Genomics-Enabled Drug Repositioning and Drug Repurposing Workshop March 23: Meeting 9 2019 June 25: Meeting 20 May 24: Challenges and Opportunities in Using January 23-24: Meeting with Keystone Symposia Newborn Screening Samples for Translational December 4−5: Meeting 21 and American College of Cardiology Research Workshop; Meeting 10 2014 March 27-28: Meeting 36 July 22: Establishing Precompetitive Collaborations to Stimulate Genomics- Driven Drug Development June 25-26: Meeting 37 February 3: Assessing Genomic Sequencing Workshop Information for Health Care Decision Making October 29-30: Meeting 38 July 23: Meeting 11 Workshop 2020 November 17: Generating Evidence for Genomic February 4: Meeting 22 Diagnostic Test Development Workshop August 18: Improving Genetics Education in March 24: The Role of Digital Health Technologies in Graduate and Continuing Health Professional Drug Development Workshop November 18: Meeting 12 Education Workshop March 25: Meeting 39 2011 August 19: Meeting 23 June 22-23: Meeting 40: Strategic Planning February 22−23: Meeting 13 December 8: Genomics-Enabled Learning Health Care Systems: Gathering and Using Genomic July 1: Meeting 41: Host Genomics Research and Data July 19: Integrating Large-Scale Genomic Information to Improve Patient Care and Research Collection Efforts Related to COVID-19 Information into Clinical Practice Workshop Workshop July 20: Meeting 14 November 10 & 12: Meeting 42: Implementation of December 9: Meeting 24 Strategic Plan November 15: Facilitating Development and Utilization of Genome-Based Diagnostic 2015 2021 Technologies Workshop March 10−11: Meeting 25 January 28: Meeting 43 November 16: Meeting 15 July 14−15: Meeting 26 March 15-16: Meeting 44 November 19: Applying an Implementation July 14-15: Meeting 45 Science Approach to Genomic Medicine Workshop October 5-6: Meeting 46 2020 Annual Report | 6 

Roundtable Staff Sarah H. Beachy, Ph.D. Meredith Hackmann Senior Program Officer and Roundtable Director Associate Program Officer Siobhan Addie, Ph.D. Lydia Teferra Program Officer Research Assistant Kelly Choi Senior Program Assistant (until July 2020) Board on Health Sciences Policy Staff NAM Greenwall Fellow in Bioethics Andrew Pope, Ph.D., Senior Board Director Rachel Fabi, Ph.D., Upstate Medical University Bridget Borel, Program Coordinator ABOUT THE NATIONAL ACADEMIES The National Academy of Sciences, National Academy of Engineering, and National Academy of Medicine work together as the National Academies of Sciences, Engineering, and Medicine (“the Academies”) to provide independent, objective analysis and advice to the nation and conduct other activities to solve complex problems and inform public policy decisions. The Academies also encourage education and research, recognize outstanding contributions to knowledge, and increase public understanding in matters of science, engineering, and medicine. The Health and Medicine Division (HMD), formerly known as the program unit of the Institute of Medicine, is a division of the Academies. HMD’s aim is to help those in government and the private sector make informed health decisions by providing evidence upon which they can rely. Each year, more than 3,000 individuals volunteer their time, knowledge, and expertise to advance the nation’s health through the work of HMD. Many of the studies that HMD undertakes are requested by federal agencies and independent organizations; others begin as specific mandates from Congress. While our expert, consensus committees are vital to our advisory role, HMD also convenes a series of forums, roundtables, and standing committees, as well as other activities, to facilitate discussion; discovery; and critical, cross-disciplinary thinking. 2020 Annual Report | 7 

The nation turns to the National Academies of Sciences, Engineering, and Medicine for indepen- dent, objective advice on issues that affect people’s lives worldwide. www.nationalacademies.org To learn more about the Roundtable, visit nationalacademies.org/our-work/Roundtable-on- genomics-and-precision-health