Roundtable on Genomics and Precision Health: 2019 Annual Report (2020)

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Roundtable on GENOMICS AND PRECISION HEALTH 2019 ANNUAL REPORT 

Contents About the Roundtable 1 Working Groups & Areas of Interest 2 Public Workshop and Meetings 3 Action Collaboratives 4 Roundtable Membership 5 Roundtable Sponsors 6 Roundtable Timeline 7 Roundtable Staff 8 

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 include the discovery and development of precision therapeutics, clinical implementation of genomic medicine, health care disparities, health information technology and digital health, public health genomics, the use of genomic information for health care decision making, using genomic information and data science to generate knowledge for clinical practice and research, and education and ethical, legal, and social issues. To achieve its objectives, the Roundtable conducts structured discussions, public workshops, and meetings, and enters into information-gathering activities, develops authored viewpoints and perspectives, organizes and supports collaboratives, and publishes workshop proceedings. nationalacademies.org/our-work/roundtable-on-genomics-and-precision-health 2019 Annual Report | 1 

Working Groups & Areas of Interest The Roundtable identifies interest areas that need highlighting and attention based on member areas of expertise and the evolution of the field of genomics and precision health. These groups are fluid in that they adapt to address challenges and areas of focus over time. The working groups for 2019-20 include: The cost of developing new therapies has been on the rise, leading many pharmaceutical companies to examine innovative strategies to revitalize and create efficiencies in their drug discovery and development processes, including the adoption of genetically-guid- ed strategies to reduce attrition rates and increase the odds of success. Group members Precision are considering patient engagement as a part of precision drug development efforts and Therapeutics multisector collaborations that can accelerate drug development. With technological advances in gene sequencing driving down costs and a growing demonstration of utility for large-scale sequencing in disease diagnosis or to identify and monitor treatments for patients, an opportunity for more widespread use of genomic medicine in health care systems and the public health system has arisen. This group is Implementation exploring the impact on access to genetic testing as new technologies are introduced in health care settings as well as the integration of consumer genomics with clinical care. This group is exploring the intersection between digital health technologies and genomic data by determining how the two fields can interface to enable precision health, improve research (patient reported outcomes, continuous phenotypes), and clinical care (monitoring, feedback, adherence). Other areas of interest include identifying strategies for successful digital health implementation in clinical care, privacy and regulatory challenges surrounding digital health Digital Health applications, and utilizing digital health technologies to improve drug development. The Overview group examines cross-cutting issues for all Roundtable members and working groups and responds to emerging issues within the genetics and genomics field. Currently, this group is focusing its efforts on participant engagement to enable precision health. Overview In 2020, the Roundatable on Genomics and Precision Health will undergo a formal strategic planning process to develop area of focus for 2021 and beyond. 2 | Roundtable on Genomics and Precision Health 

Public Workshop Exploring the Current Landscape of Consumer Genomics A Workshop OCTOBER 29, 2019 Click here to learn more about the workshop. 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. Discussions at the workshop focused on understanding how consumers use consumer genomics testing, integration within scientific and medical communities, diversity of genetic databases and the implications for health disparities, and regulatory and health policy issues. The publication of the proceedings can be found here Meetings January 21-25, 2019 June 25-26, 2019 A group of Roundtable members attended the Keystone Roundtable members discussed the participant technology Symposia on Digital Health: From Science to Application strategy of the All of Us Program and visited Vibrent Health, to discuss issues pertaining to precision health and digital an organization working on the technology aspect of health. The Roundtable’s Digital Health interest group participant engagement and retention. The following day’s co-developed a session for the Keystone meeting with the agenda included discussions around participant engagement American College of Cardiology focusing on strategies for for precision therapeutics and health literacy considerations digital health implementation and some of the challenges for genomic medicine. encountered in the field. Roundtable members and invited speakers convened on January 23 for a member discussion focusing on critical policy issues for digital health and October 30, 2019 genomics and future directions that the Roundtable could The Roundtable debriefed following its public workshop take in the digital health space. on consumer genomics and heard from invited speakers on current legislation pertaining to precision health and access to genetic testing. Members also discussed engagement and March 27, 2019 attitudes surrounding clinical trial participation and had an Roundtable members and several speakers from the opportunity to meet with their working groups to identify Roundtable on Population Health and Health Improvement next steps and follow-up activities. discussed issues at the interface of population health and genomics. Other topics explored during the meeting included privacy and regulatory challenges associated with digital health applications and how employers can play a role in providing access to genomic medicine. 2019 Annual Report | 3 

Action Collaboratives The following action collaboratives are ad hoc activities under the auspices of the Roundtable on Genomics and Precision Health at the National Academies of Sciences, Engineering, and Medicine (the National Academies). Products produced by an action collaborative do not necessarily represent the views of any one organization, the Roundtable, or the National Academies and have not been subjected to the review procedures of, nor are they a report or product of, the National Academies. The Genomics and Population Health Action Collaborative (GPHAC) was initiated at the end of 2015 to explore opportunities for genomics research and applications to be used to improve health and prevent disease; inform and engage various stakeholders about the implementation of genomics in practice; and assess how evidence-based genomic applications could be integrated into implementation activities and programs at the health care-public Genomics and health interface. GPHAC participants met on March 28, 2019 for a meeting focused on Population developing implementation strategies and resources for cascade and population screening for Health Action Hereditary Breast and Ovarian Cancer, Lynch syndrome, and Familial Hypercholesterolemia. Stakeholders from the implementation science, patient advocacy, and genomics research Collaborative communities participated in the meeting. During and after the meeting, participants discussed (GPHAC) potential activities and next steps for the collaborative as it reaches the final year. click here to learn more about the collaborative GPHAC participants gathered for a photo after the meeting on March 28, 2019. The meeting focused on developing strategies and resources for cascade and population screening for identified health issues. Learn more about former action collaboratives hosted by the Genomics Roundtable by clicking below: Global Genomic Medicine Collaborative (G2MC) DIGITizE: Displaying and Integrating Genetic Information Through the EHR Action Collaborative 4 | Roundtable on Genomics and Precision Health 2019 Annual Report | 4 

Roundtable Membership (AS OF DECEMBER 2019) Geoffrey S. Ginsburg, M.D., Ph.D. Sekar Kathiresan, M.D. Nikoletta Sidiropoulos, M.D. (Co-Chair) Massachusetts General Hospital The University of Vermont Health Duke University Muin Khoury, M.D., Ph.D. Network Medical Group Michelle Penny, Ph.D. (Co-Chair) Centers for Disease Control and Katherine Johansen Taber, Ph.D. Biogen Prevention Myriad Women’s Health Naomi Aronson, Ph.D. Charles Lee, Ph.D., FACMG Ryan Taft, Ph.D. Blue Cross and Blue Shield Association The Jackson Laboratory for Genomic Illumina Aris Baras, M.D., M.B.A. Medicine Jacquelyn Taylor, Ph.D. Regeneron Pharmaceuticals Thomas Lehner, Ph.D., M.P.H. New York University Karina Bienfait, Ph.D. National Institute of Mental Health Sharon F. Terry, M.A. Merck and Co., Inc. Patrick Loerch, Ph.D. Genetic Alliance Johnson & Johnson Vence Bonham, Jr., J.D. Joyce Tung, Ph.D. National Human Genome Research James Lu, M.D., Ph.D. 23andMe Institute Helix Jameson Voss, M.D., M.P.H. Robert B. Darnell, M.D., Ph.D. Sean McConnell, Ph.D. Air Force Medical Support Agency The Rockefeller University American Medical Association Michael S. Watson, Ph.D. Stephanie Devaney, Ph.D. Mona Miller, M.P.P. American College of Medical Genetics All of Us Research Program American Society of Human Genetics and Genomics Katherine Donigan, Ph.D. Jennifer Moser, Ph.D. Karen E. Weck, M.D., FCAP U.S. Food and Drug Administration Department of Veterans Affairs College of American Pathologists W. Gregory Feero, M.D., Ph.D. Anna Pettersson, Ph.D. Catherine A. Wicklund, M.S., C.G.C. JAMA Pfizer Inc. National Society of Genetic Counselors Jessica Gill, Ph.D., R.N., FAAN Victoria M. Pratt, Ph.D., FACMG Huntington F. Willard, Ph.D. National Institute of Nursing Research Association for Molecular Pathology Geisinger National Precision Health Marc Grodman, M.D. Nadeem Sarwar, Ph.D. Janet K. Williams, Ph.D., R.N., FAAN Genosity Eisai Inc. American Academy of Nursing Emily Harris, Ph.D., M.P.H. Sheri Schully, Ph.D. Sarah Wordsworth, Ph.D. National Cancer Institute NIH Office of Disease Prevention University of Oxford Richard Hodes, M.D. Joan A. Scott, M.S., C.G.C. Alicia Zhou, Ph.D. National Institute on Aging Health Resources and Services Color Genomics Administration Praduman Jain Vibrent Health 5 | Roundtable on Genomics and Precision Health 2019 Annual Report | 5 

Roundtable Sponsors 23andMe, Inc. The Jackson Laboratory American Academy of Nursing Janssen Research and Development, LLC American College of Medical Genetics and Genomics Merck & Co., Inc. American Medical Association Myriad Women’s Health American Society of Human Genetics National Cancer Institute Association for Molecular Pathology National Human Genome Research Institute Biogen National Institute of Mental Health Blue Cross and Blue Shield Association National Institute of Nursing Research College of American Pathologists National Institute on Aging Color Genomics National Institutes of Health All of Us Research Program Department of Veterans Affairs National Institutes of Health Office of Disease Prevention Eisai Inc. National Society of Genetic Counselors Geisinger Pfizer Inc. Genosity Regeneron Pharmaceuticals Health Resources and Services Administration United States Air Force Medical Service Helix The University of Vermont Health Network Medical Group Illumina Vibrent Health Associations, 34% 29% Government nonprofits, and health systems ROUNDTABLE SPONSOR REPRESENTATION 37% Industry 6 | Roundtable on Genomics and Precision Health 20189 Annual Report | 6 

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

Roundtable Staff Sarah H. Beachy, Ph.D. Michael Berrios, M.A. Senior Program Officer and Roundtable Senior Program Assistant Director (until March 2020) Siobhan Addie, Ph.D. Kelly Choi Program Officer Senior Program Assistant (from March 2020) Meredith Hackmann Associate Program Officer Board on Health Sciences Policy Staff Andrew Pope, Ph.D., Senior Board Director 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. 8 | Roundtable on Genomics and Precision Health 2019 Annual Report | 8 

The national 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