Roundtable on Genomics and Precision Health: 2018 Annual Report (2019)

Below is the uncorrected machine-read text of this chapter, intended to provide our own search engines and external engines with highly rich, chapter-representative searchable text of each book. Because it is UNCORRECTED material, please consider the following text as a useful but insufficient proxy for the authoritative book pages.

Roundtable on GENOMICS AND PRECISION HEALTH 2018 ANNUAL REPORT 

Contents About the Roundtable 1 Working Groups & Areas of Interest 2 Public Workshop and Meetings 3 Publications and Perspectives 4 Action Collaboratives 5 Roundtable Membership 6 Roundtable Sponsors 7 Roundtable Timeline 8 Roundtable Staff 9 

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/GenomicsRT 2018 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 2018-19 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 guided 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, Therapeutics education and awareness surrounding genetic resources, and entrepreneurial innovation 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 role of employers in providing access to genomic and genetic services as part of health benefit packages. 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 that may be explored by the group include strategies for successful digital health implementation in clinical care and privacy and Digital Health regulatory challenges surrounding digital health applications. Overall, the group seeks to convene experts from the fields of genomics and digital health to illuminate areas of synergy and to inform each other about successes and challenges encountered in each sector. 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 disparities in access to genomic medicine. Overview 2 | Roundtable on Genomics and Precision Health 

Public Workshop Understanding Disparities in Prior to the workshop, several of the speakers, Roundtable members, and workshop registrants participated in a Access to Genomic Medicine Twitter chat hosted by the National Academies’ Health and Medicine Division on the topics of #GenomicsDisparities. A Workshop Topics discussed during the chat included challenges JUNE 27, 2018 faced by patients when trying to access genetics-based services, opportunities for increasing access, the role of http://bit.ly/GenomicDisparitiesWS health systems and providers in improving access, and This workshop explored gaps in knowledge related to lessons that can be learned from other areas of medicine access to genomic medicine and discussed health care in how genetics-based services can be equitably provided. disparities and possible approaches to overcoming differential use of genomic medicine across populations. Model programs of care for diverse patient populations were highlighted. Participants discussed current challenges and possible best practices for alleviating health care disparities as they relate to genomics-based approaches. Meetings Panelists at the Understanding Disparities in Access to Genomic Medicine workshop March 20, 2018 October 5, 2018 Roundtable members and speakers discussed some of Roundtable members met virtually to discuss the recently the security challenges related to storing large-scale released National Academies consensus report Returning genomic data and opportunities for securing data by using Individual Research Results to Participants: Guidance for emerging technologies like blockchain. The Roundtable a New Research Paradigm. Members were debriefed also explored innovative collaborative models in the pre- on the recommendations from the committee as well as competitive space that utilize genomic data to accelerate implications for genomic information by study staff and the development and use of precision medicine. members of the consensus committee. June 28, 2018 The Roundtable debriefed following the workshop on disparities in access to genomic medicine and discussed current precision medicine research initiatives including All of Us and efforts around shaping health systems at the World Economic Forum. The working groups also convened in breakout sessions to identify specific themes and challenges that could be explored in the upcoming year. 2018 Annual Report | 3 

Publications lmplementing and Understanding Disparities in Evaluating Genomic Access to Genomic Medicine Screening Programs in Proceedings of a Workshop Health Care Systems http://bit.ly/GenomicDisparitiesPW Proceedings of a Workshop RELEASED: NOVEMBER 14, 2018 http://bit.ly/GenomicScreeningPW RELEASED: MARCH 16, 2018 Perspectives Accelerating Precision A Proposed Approach for Health by Applying Implementing Genomics- the Lessons Learned Based Screening Programs for from Direct-to-Consumer Healthy Adults Genomics to http://bit.ly/GenomicsScreeningPerspective Digital Health POSTED: DECEMBER 3, 2018 Technologies http://bit.ly/PrecisionHealthPerspective POSTED: MARCH 19, 2018 Perspectives, published by the National Academy of Medicine (NAM), are individually authored by Roundtable and Forum members and outside experts in health and health care. The views expressed in these papers are those of the authors and not necessarily of the authors’ organizations, the National Academy of Medicine (NAM), or the National Academies of Sciences, Engineering, and Medicine (the National Academies). Perspectives are intended to help inform and stimulate discussion. They are not reports of the NAM or the National Academies. 4 | Roundtable on Genomics and Precision Health 

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 health interface. GPHAC is currently organized into three working groups— Genomics and population screening, cascade screening, and implementation. Together, these groups are Population assessing best practices and outcomes for implementation of population-level genomics Health Action activities; creating tools and educational materials to facilitate the uptake of genomics- Collaborative based applications in health care and disease prevention; informing and engaging (GPHAC) stakeholders; and exploring critical aspects of pilot projects for cascade screening/testing http://bit.ly/GPHACAC of at-risk relatives. The Action Collaborative on Displaying and Integrating Genetic Information Through the EHR (DIGITizE), convenes key stakeholders from health information technology and management vendors, academic health centers, government agencies, and other organizations to work together to examine how genomic information can be uniformly represented and integrated into electronic health records in a standards-based format. Displaying and An implementation guide containing the message structures and clinical decision support Integrating rules for a pharmacogenomics use case was finalized at the end of 2015 in preparation for Genetic pilot programs that began in 2016. Pilot participants include Intermountain Healthcare, Information Boston Children’s Hospital, Duke University, Johns Hopkins University, Mission Health, Through Partners Healthcare, St. Jude Children’s Research Hospital, University of Iowa, and the EHR University of Utah. Working groups explored additional use cases for further phases of the pilot projects in conjunction with a collaborative partner. In 2018, DIGITizE became part (DIGITizE) of the FHIR Foundation, whose goal is to provide support for the expansion of the FHIR http://bit.ly/ community by promoting the global adoption and implementation of this platform. DIGITizEAC 2018 Annual Report | 5 

Roundtable Membership (AS OF DECEMBER 2018) Geoffrey S. Ginsburg, M.D., Ph.D. (Co-Chair) Anna Pettersson, Ph.D. Duke University Pfizer Inc. Michelle Penny, Ph.D. (Co-Chair) Victoria M. Pratt, Ph.D., FACMG Biogen Association for Molecular Pathology Naomi Aronson, Ph.D. Laura Lyman Rodriguez, Ph.D. Blue Cross and Blue Shield Association National Human Genome Research Institute Aris Baras, M.B.A. Nadeem Sarwar, Ph.D. Regeneron Pharmaceuticals Eisai Inc. John W. Belmont, M.D., Ph.D. Sheri Schully, Ph.D. Illumina NIH Office of Disease Prevention Karina Bienfait, Ph.D. Joan A. Scott, M.S., C.G.C. Merck and Co., Inc. Health Resources and Services Administration Ann Cashion, Ph.D. Sam Shekar, M.D., M.P.H. National Institute of Nursing Research Northrop Grumman Information Systems Robert B. Darnell, M.D., Ph.D. Nikoletta Sidiropoulos, M.D. The Rockefeller University The University of Vermont Medical Center and The Joseph Donahue University of Vermont Health Network Medical Group Accenture Katherine Johansen Taber, Ph.D. Katherine Donigan, Ph.D. Counsyl, Inc. U.S. Food and Drug Administration Sharon F. Terry, M.A. W. Gregory Feero, M.D., Ph.D. Genetic Alliance JAMA Joyce Tung, Ph.D. Marc Grodman, M.D. 23andMe Genosity Jameson Voss, M.D., M.P.H. Jill Hagenkord, M.D. Air Force Medical Support Agency Color Genomics Michael S. Watson, Ph.D. Emily Harris, Ph.D., M.P.H. American College of Medical Genetics and Genomics National Cancer Institute Karen E. Weck, M.D., FCAP Richard Hodes, M.D. College of American Pathologists National Institute on Aging Catherine A. Wicklund, M.S., C.G.C. Muin Khoury, M.D., Ph.D. National Society of Genetic Counselors Centers for Disease Control and Prevention Benjamin Wiegand, Ph.D. Thomas Lehner, Ph.D., M.P.H. Johnson & Johnson National Institute of Mental Health Huntington F. Willard, Ph.D. Sean McConnell, Ph.D. Geisinger National Precision Health American Medical Association Janet K. Williams, Ph.D., R.N., FAAN Jennifer Moser, Ph.D. American Academy of Nursing Department of Veterans Affairs 6 | Roundtable on Genomics and Precision Health 

Roundtable Sponsors 23andMe, Inc. Kaiser Permanente American Academy of Nursing Janssen Research and Development, LLC American College of Medical Genetics and Genomics Merck & Co., Inc. American Medical Association 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 Office of Disease Counsyl, Inc. Prevention Department of Veterans Affairs National Society of Genetic Counselors Eisai Inc. Northrop Grumman Geisinger Pfizer Inc. Genosity Regeneron Pharmaceuticals Health Resources and Services Administration United States Air Force Medical Service Illumina The University of Vermont Medical Center and The University of Vermont Health Network Medical Group Associations, 32% 29% Government nonprofits, and health systems ROUNDTABLE SPONSOR REPRESENTATION 39% Industry 2018 Annual Report | 7 

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

Roundtable Staff Sarah H. Beachy, Ph.D. Meredith Hackmann Senior Program Officer and Roundtable Research Associate Director Rebecca Ray Siobhan Addie, Ph.D. Senior Program Assistant Program Officer Board on Health Sciences Policy Staff Andrew Pope, Ph.D., Senior Board Director Mariam Shelton, M.P.H., CHES, 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. 2018 Annual Report | 9 

To learn more about the Roundtable, visit nationalacademies.org/GenomicsRT