Roundtable on Genomics and Precision Health: 2017 Annual Report (2018)

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Roundtable on GENOMICS AND PRECISION HEALTH 2017 ANNUAL REPORT 

Contents About the Roundtable 1 Working Groups & Areas of Interest 2 Public Workshops 3 Meetings 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 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; enters into information-gathering activities; develops authored viewpoints and perspectives; organizes and supports collaboratives; and publishes workshop proceedings. nationalacademies.org/GenomicsRT 2017 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 2017-18 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. This group is Precision interested in enabling precision medicine by identifying which patients should be treated Therapeutics with a particular medicine. Group members are exploring methods for recruiting patients to clinical trials based on genetics, identifying biomarkers for responders, and developing new resources that can enable genetics-based clinical trials. This group is also assessing innovative collaborative models in practice to leverage cross-sector contributions to accelerate drug discovery and 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 in health Implementation care systems and the public health system has arisen. This group is exploring the use and Public of genomic screening programs across health care systems and the opportunities for generating, collecting, and sharing data and evidence on a large scale; the return on Health Systems investment and value that these programs can bring to a system; and the challenges that exist for reaching a diverse and representative population when the goal is to have genetic testing available to all. 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). Group members are interested in applying what has been learned from the consumer genomics space (e.g., about consumer access, consumer comprehension, regulatory jurisdiction, health care provider readiness, clinical utility, personal utility, potential burden on the health system, and quality standards) to the Digital Health developing field of digital health for more widespread applications for precision medicine and Genomics and to enable large-scale genetic/genomic testing initiatives. Other areas that may be explored by the group include the role of digital health platforms as a possible mechanism to link disparate data sources and information that is not currently in the electronic health record (EHR) as well as ensuring that integration with the EHR can be achieved for both research and clinical care. 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 precision medicine and precision health. Overview 2 | Roundtable on Genomics and Precision Health 

Public Workshops Enabling Precision Medicine: Implementing and Evaluating The Role of Genetics in Clinical Genomic Screening Programs in Drug Development Health Care Systems A Workshop A Workshop MARCH 8, 2017 NOVEMBER 1, 2017 http://bit.ly/PrecisionMedWS Proceedings of a Workshop available spring 2018 Together with the Forum on Drug Discovery, Development, http://bit.ly/ImplementingWS and Translation, the Roundtable co-hosted this workshop This workshop explored the implementation of genomics- as a way to explore the successes, challenges, and best based screening programs into health care systems. practices for effectively utilizing genetic information in the Case studies of ongoing or future genomics screening design and implementation of clinical trials to support the programs were highlighted during the workshop as a way development of precision medicines. Discussions explored to understand successes, lessons learned, and challenges how clinical trials with genetically identified participants regarding evidence and economic considerations (e.g., can enable more efficient and effective drug development clinical utility, value), policy environments (e.g., alleviating and advance precision medicine. Speakers also examined privacy and discrimination concerns for participants), and ongoing genetics-based clinical trials across a variety of data sharing within and across institutions. diseases, focusing on logistical design challenges, best practices and lessons learned, and novel mechanisms to engage participants and improve enrollment into clinical trials based on genetic characteristics. PUBLICATION Enabling Precision Medicine: The Role of Genetics in Clinical Drug Development Proceedings of a Workshop http://bit.ly/PrecisionMedWSPub RELEASED: JULY 10, 2017 2017 Annual Report | 3 

Meetings March 9, 2017 November 2, 2017 Roundtable members and speakers discussed challenges Roundtable members and speakers discussed current in the field including coverage for and access to genomic research on health care disparities in genomic medicine medicine services, considerations about return on and explored potential avenues for addressing the investment for health systems as they make decisions issues of cost, coverage, and access to genomic testing about implementing genomics-based programs, and data and services, including learning from and developing a issues related to incorporating digital health applications resource of best practices of programs that are effectively into clinical care workflows. engaging and caring for diverse populations. The Roundtable also engaged with speakers working in the July 17–18, 2017 field of artificial intelligence to learn about intersections between genomics and artificial intelligence—such as Members explored the issues that could impact the future deep learning using genomic sequencing data—and the of genomics research, considered the role of the National potential for improved outcomes for drug response based Academies in the new presidential administration, and on phenotypic and genotypic information. discussed opportunities to interact with the efforts of the All of Us research program. Speaker panels discussed the opportunities to utilize best practices from health and social sciences in genomics research to address health care disparities and access to services as well as the regulatory and clinical challenges in utilizing digital health data for patient care. 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 Global Genomic Medicine Collaborative (G2MC), an action collaborative launched in 2014 under the auspices of the Roundtable on Genomics and Precision Health following Global Genomic the Global Leaders in Genomic Medicine meeting, was incorporated as a 501(c)3 nonprofit Medicine organization in 2016 and transitioned from the Roundtable in 2017 to continue its work Collaborative in collaboration with the Global Alliance for Genomics and Health (GA4GH). G2MC aims (G2MC) to develop knowledge, resources, and collaborations that can enable genomic medicine implementation globally. https://g2mc.org 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 Displaying and represented and integrated into electronic health records in a standards-based format. 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 (DIGITizE) pilot projects in conjunction with a collaborative partner. In 2018, DIGITizE will become http://bit.ly/DIGITizEAC part of the FHIR Foundation, whose goal is to provide support for the expansion of the FHIR community by promoting the global adoption and implementation of this standards platform. 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 Genomics and care-public health interface. GPHAC is currently organized into three working groups: Population population screening, cascade screening, and implementation. Together, these groups are Health Action assessing best practices and outcomes for implementation of population-level genomics Collaborative activities; creating tools and educational materials to facilitate the uptake of genomics- (GPHAC) based applications in health care and disease prevention; informing and engaging http://bit.ly/GPHACAC stakeholders; and exploring critical aspects of pilot projects for cascade screening/testing of at-risk relatives. 2017 Annual Report | 5 

Roundtable Membership (AS OF DECEMBER 2017) Geoffrey S. Ginsburg, M.D., Ph.D. (Co-Chair) David Litwack, Ph.D. Duke University U.S. Food and Drug Administration Sharon F. Terry, M.A. (Co-Chair) Laura Lyman Rodriguez, Ph.D. Genetic Alliance National Human Genome Research Institute Naomi Aronson, Ph.D. Robert McCormack, Ph.D. Blue Cross and Blue Shield Association Johnson & Johnson Nazneen Aziz, Ph.D. Jennifer Moser, Ph.D. Kaiser Permanente Department of Veterans Affairs Rebecca Blanchard, Ph.D. Michelle Penny, Ph.D. Merck and Co., Inc. Biogen Ruth Brenner, Lt Col, USAF, MC Victoria M. Pratt, Ph.D., FACMG Air Force Medical Support Agency Association for Molecular Pathology Ann Cashion, Ph.D. Nadeem Sarwar, Ph.D. National Institute of Nursing Research Eisai Inc. Robert B. Darnell, M.D., Ph.D. Derek Scholes, Ph.D. The Rockefeller University American Society of Human Genetics Barry Dickinson, Ph.D. Sheri Schully, Ph.D. American Medical Association NIH Office of Disease Prevention Joseph Donahue Joan A. Scott, M.S., C.G.C. Accenture Health Resources and Services Administration W. Gregory Feero, M.D., Ph.D. Sam Shekar, M.D., M.P.H. Journal of the American Medical Association Northrop Grumman Information Systems Andrew N. Freedman, Ph.D. Ryan Taft, Ph.D. National Cancer Institute Illumina Marc Grodman, M.D. Joyce Tung, Ph.D. Columbia University 23andMe, Inc. Jill Hagenkord, M.D. David Veenstra, Pharm.D., Ph.D. Color Genomics University of Washington Richard Hodes, M.D. Michael S. Watson, Ph.D. National Institute on Aging American College of Medical Genetics and Genomics Katherine Johansen Taber, Ph.D. Catherine A. Wicklund, M.S., C.G.C. Counsyl, Inc. National Society of Genetic Counselors Muin Khoury, M.D., Ph.D. Huntington F. Willard, Ph.D. Centers for Disease Control and Prevention Geisinger National Precision Health Thomas Lehner, Ph.D., M.P.H. Janet K. Williams, Ph.D., R.N., FAAN National Institute of Mental Health American Academy of Nursing Debra Leonard, M.D., Ph.D. College of American Pathologists 6 | Roundtable on Genomics and Precision Health 

Roundtable Sponsors 23andMe, Inc. Health Resources and Services Administration Accenture Illumina American Academy of Nursing Johnson & Johnson American College of Medical Genetics and Genomics Kaiser Permanente American Medical Association Marc Grodman American Society of Human Genetics Merck Research Laboratories 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 Counsyl, Inc. National Institutes of Health Office of Disease Department of Veterans Affairs Prevention Eisai Inc. National Society of Genetic Counselors Geisinger Northrop Grumman United States Air Force Medical Service Foundations and 31% 31% Industry Associations ROUNDTABLE SPONSOR REPRESENTATION 38% Government 2017 Annual Report | 7 

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

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