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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/25048.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/25048.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/25048.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/25048.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/25048.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/25048.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/25048.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/25048.
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Suggested Citation:"Front Matter." National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and Evaluating Genomic Screening Programs in Health Care Systems: Proceedings of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/25048.
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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.

Implementing and Evaluating Genomic Screening Programs in Health Care Systems PROCEEDINGS OF A WORKSHOP Siobhan Addie, Meredith Hackmann, Theresa Wizemann, and Sarah Beachy, Rapporteurs Roundtable on Genomics and Precision Health Board on Health Sciences Policy Health and Medicine Division PREPUBLICATION COPY—Uncorrected Proofs

THE NATIONAL ACADEMIES PRESS   500 Fifth Street, NW   Washington, DC 20001 This project was supported by contracts between the National Academy of Sciences and 23andMe (unnumbered contract); Accenture (unnumbered contract); Air Force Medical Service (FA8052-17-P-0007); American Academy of Nursing (unnumbered contract); American College of Medical Genetics and Genomics (unnumbered con- tract); American Medical Association (unnumbered contract); American Society of Human Genetics (unnumbered contract); Association for Molecular Pathology (unnumbered contract); Biogen (unnumbered contract); Blue Cross and Blue Shield Association (unnumbered contract); College of American Pathologists (unnumbered contract); Color Genomics (unnumbered contract); Department of Veterans Affairs (Contract No. VA240-14-C-0037); Eisai Inc. (unnumbered contract); Eli Lilly and Company (unnumbered contract); Health Resources and Services Administration (HHSH250201500001I, Order No. HHSH250); Illumina, Inc. (unnumbered con- tract); Johnson & Johnson (unnumbered contract); Marc Grodman (unnumbered contract); Merck & Co., Inc. (Contract No. CMO-170216-001875); National Institutes of Health (Contract No. HHSN263201200074I; Task Order No. HHSN 26300093): National Cancer Institute; National Human Genome Research Insti- tute; National Institute of Mental Health; National Institute of Nursing Research; National Institute on Aging; and Office of Disease Prevention; National Society of Genetic Counselors (unnumbered contract); and Northrop Grumman Health IT (unnumbered contract). Any opinions, findings, conclusions, or recommendations expressed in this publication do not necessarily reflect the views of any organization or agency that provided support for the project. International Standard Book Number-13:  978-0-309-XXXXX-X International Standard Book Number-10:  0-309-XXXXX-X Digital Object Identifier:  https://doi.org/10.17226/25048 Additional copies of this publication are available for sale from the National Acad- emies Press, 500 Fifth Street, NW, Keck 360, Washington, DC 20001; (800) 624- 6242 or (202) 334-3313; http://www.nap.edu. Copyright 2018 by the National Academy of Sciences. All rights reserved. Printed in the United States of America Suggested citation: National Academies of Sciences, Engineering, and Medicine. 2018. Implementing and evaluating genomic screening programs in health care systems: Proceedings of a workshop. Washington, DC: The National Academies Press. doi: https://doi.org/10.17226/25048. PREPUBLICATION COPY—Uncorrected Proofs

The National Academy of Sciences was established in 1863 by an Act of Congress, signed by President Lincoln, as a private, nongovernmental institu- tion to advise the nation on issues related to science and technology. Members are elected by their peers for outstanding contributions to research. Dr. Marcia McNutt is president. The National Academy of Engineering was established in 1964 under the char- ter of the National Academy of Sciences to bring the practices of engineering to advising the nation. Members are elected by their peers for extraordinary contributions to engineering. Dr. C. D. Mote, Jr., is president. The National Academy of Medicine (formerly the Institute of Medicine) was established in 1970 under the charter of the National Academy of Sciences to advise the nation on medical and health issues. Members are elected by their peers for distinguished contributions to medicine and health. Dr. Victor J. Dzau is president. The three Academies work together as the National Academies of Sciences, Engi­ eering, and Medicine to provide independent, objective analysis and n a ­ dvice to the nation and conduct other activities to solve complex problems and inform public policy decisions. The National Academies also encourage education and research, recognize outstanding contributions to knowledge, and increase public understanding in matters of science, engineering, and medicine. Learn more about the National Academies of Sciences, Engineering, and Medicine at www.nationalacademies.org. PREPUBLICATION COPY—Uncorrected Proofs

Consensus Study Reports published by the National Academies of Sciences, Engineering, and Medicine document the evidence-based consensus on the study’s statement of task by an authoring committee of experts. Reports typi- cally include findings, conclusions, and recommendations based on information gathered by the committee and the committee’s deliberations. Each report has been subjected to a rigorous and independent peer-review process and it represents the position of the National Academies on the statement of task. Proceedings published by the National Academies of Sciences, Engineering, and Medicine chronicle the presentations and discussions at a workshop, symposium, or other event convened by the National Academies. The statements and ­ pinions o contained in proceedings are those of the participants and are not endorsed by other participants, the planning committee, or the National Academies. For information about other products and activities of the National Academies, please visit www.nationalacademies.org/about/whatwedo. PREPUBLICATION COPY—Uncorrected Proofs

PLANNING COMMITTEE ON IMPLEMENTING AND EVALUATING GENOMIC SCREENING PROGRAMS IN HEALTH CARE SYSTEMS1 W. GREGORY FEERO (Co-Chair), Representative of the Journal of the American Medical Association; Faculty, Maine Dartmouth Family Medicine Residency Program, Fairfield, ME DAVID VEENSTRA (Co-Chair), Professor, Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington, Seattle NAZNEEN AZIZ, Executive Director, Kaiser Permanente Research Bank, Kaiser Permanente, Oakland, CA GAIL GELLER, Director of Education, Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD JEFFREY HANKOFF, Medical Officer, Cigna Healthcare, Glendale, CA GEORGE J. ISHAM, Senior Advisor, HealthPartners; Senior Fellow, HealthPartners Institute for Education and Research, HealthPartners, Minneapolis, MN MUIN KHOURY, Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA BRUCE KORF, Wayne H. and Sarah Crews Finley Chair in Medical Genetics; Director, Department of Genetics, Heflin Center for Genomic Sciences, University of Alabama, Birmingham CHRISTINE LU, Associate Professor, Department of Population Medicine; Co-Director, Precision Medicine Translational Research Center (PROMoTeR), Harvard Pilgrim Health Care Institute, Harvard Medical School, Boston, MA MARCELLA NUNEZ-SMITH, Associate Professor, General Internal Medicine; Director, Equity Research and Innovation Center; Director, Center for Research Engagement; Core Faculty, National Clinician Scholars Program; Deputy Director, Yale Center for Clinical Investigation, Yale School of Medicine, New Haven, CT JAMES O’LEARY, Chief Innovation Officer, Genetic Alliance, Washington, DC CATHY WICKLUND, Past President, National Society of Genetic Counselors; Director, Graduate Program in Genetic Counseling; Associate Professor, Department of Obstetrics and Gynecology, Northwestern University, Evanston, IL 1  The National Academies of Sciences, Engineering, and Medicine’s planning committees are solely responsible for organizing the workshop, identifying topics, and choosing speakers. The responsibility for the published Proceedings of a Workshop rests with the workshop rap- porteurs and the institution. v PREPUBLICATION COPY—Uncorrected Proofs

Roundtable on Genomics and Precision Health Staff SARAH H. BEACHY, Director SIOBHAN ADDIE, Program Officer MEREDITH HACKMANN, Research Associate REBECCA RAY, Senior Program Assistant Board on Health Sciences Policy Staff ANDREW M. POPE, Director STEPHANIE YOUNG, Program Coordinator (from January 2018) vi PREPUBLICATION COPY—Uncorrected Proofs

ROUNDTABLE ON GENOMICS AND PRECISION HEALTH1 GEOFFREY GINSBURG (Co-Chair), Director, Center for Applied Genomics and Precision Medicine, Duke University, Durham, NC SHARON TERRY (Co-Chair), President and Chief Executive Officer, Genetic Alliance, Washington, DC NAOMI ARONSON, Executive Director, Technology Evaluation Center, Blue Cross and Blue Shield Association, Chicago, IL NAZNEEN AZIZ, Executive Director, Kaiser Permanente Research Bank, Kaiser Permanente, Oakland, CA REBECCA BLANCHARD, Executive Director, Genetics and Pharmacogenomics, Head of Clinical Pharmacogenomics, Merck and Co., Inc., West Point, PA RUTH BRENNER, Chief of Air Force Medical Support Personalized Medicine, Air Force Medical Support Agency, Falls Church, VA ANN CASHION, Scientific Director, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD ROBERT B. DARNELL, President and Scientific Director, New York Genome Center; Investigator, Howard Hughes Medical Institute, Heilbrunn Cancer Professor and Senior Physician, Head, Laboratory of Molecular Neuro-Oncology, The Rockefeller University, New York, NY JOSEPH DONAHUE, Managing Director, Global Life Sciences Research and Development, Accenture, Berwyn, PA MICHAEL J. DOUGHERTY, Director of Education, American Society of Human Genetics, Bethesda, MD (until August 2017) W. GREGORY FEERO, Representative of the Journal of the American Medical Association; Faculty, Maine Dartmouth Family Medicine Residency Program, Fairfield, ME ANDREW N. FREEDMAN, Branch Chief, Clinical and Translational Epidemiology Branch, Epidemiology and Genetics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, MD MARC GRODMAN, Assistant Professor of Clinical Medicine, Columbia University, New York, NY JILL M. HAGENKORD, Chief Medical Officer, Color Genomics, Mountain View, CA RICHARD J. HODES, Director, National Institute on Aging, Bethesda, MD 1The National Academies of Sciences, Engineering, and Medicine’s forums and roundtables do not issue, review, or approve individual documents. The responsibility for the published Proceedings of a Workshop rests with the workshop rapporteurs and the institution. vii PREPUBLICATION COPY—Uncorrected Proofs

MUIN KHOURY, Director, National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA THOMAS LEHNER, Director, Office of Genomics Research Coordination, National Institute of Mental Health, Bethesda, MD DEBRA LEONARD, Representative of the College of American Pathologists; Professor and Chair of Pathology and Laboratory Medicine, College of Medicine, University of Vermont, Burlington, VT DAVID LITWACK, Staff Fellow, U.S. Food and Drug Administration, Silver Spring, MD ROBERT McCORMACK, Head, Biomarker Translation, Disease Interceptor Accelerator, Janssen Research & Development, Raritan, NJ JENNIFER MOSER, Health Science Specialist, Genomic Medicine Program, Office of Research and Development, Department of Veterans Affairs, Washington, DC LAURA K. NISENBAUM, Advisor, Chorus Clinical Development, Eli Lilly and Company, Indianapolis, IN (until November 2017) MICHELLE PENNY, Director, Computational Biology and Genomics, Biogen, Boston, MA VICTORIA M. PRATT, Representative, Association for Molecular Pathology; Associate Professor, Clinical Medical and Molecular Genetics, and Director, Pharmacogenomics Diagnostic Laboratory, Department of Medical and Molecular Genetics, School of Medicine, Indiana University, Indianapolis MARY V. RELLING, Member and Chair, Department of Pharmaceutical Sciences, St. Jude Children’s Research Hospital, Memphis, TN (until September 2017) LAURA LYMAN RODRIGUEZ, Senior Advisor to the Director for Research Policy, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (from July 2017) NADEEM SARWAR, President, Andover Product Creation Innovation System, Eisai Inc., Cambridge, MA DEREK SCHOLES, Director of Science Policy, American Society of Human Genetics, Bethesda, MD (from September 2017) SHERI SCHULLY, Senior Advisor for Disease Prevention, Office of Disease Prevention, National Institutes of Health, Bethesda, MD JOAN A. SCOTT, Chief, Genetic Services Branch, Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Rockville, MD SAM SHEKAR, Chief Medical Officer, Health Information Technology Program, Northrop Grumman Information Systems, McLean, VA KATHERINE JOHANSEN TABER, Director, Personalized Medicine, American Medical Association, Chicago, IL (until November 2017) viii PREPUBLICATION COPY—Uncorrected Proofs

RYAN TAFT, Senior Director, Population and Medical Genomics, Illumina, Inc., San Diego, CA (from April 2017) JOYCE TUNG, Vice President, Research, 23andMe, Mountain View, CA (from April 2017) DAVID VEENSTRA, Professor, Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington, Seattle MICHAEL S. WATSON, Executive Director, American College of Medical Genetics and Genomics, Bethesda, MD CATHERINE A. WICKLUND, Past President, National Society of Genetic Counselors; Director, Graduate Program in Genetic Counseling; Associate Professor, Department of Obstetrics and Gynecology, Northwestern University, Evanston, IL ROBERT WILDIN, Chief, Genomic Healthcare Branch, National Human Genome Research Institute, Bethesda, MD (until July 2017) JANET K. WILLIAMS, Representative, American Academy of Nursing; Professor of Nursing, Chair of Behavioral and Social Science, College of Nursing, University of Iowa, Iowa City Roundtable on Genomics and Precision Health Staff SARAH H. BEACHY, Director SIOBHAN ADDIE, Program Officer MEREDITH HACKMANN, Research Associate REBECCA RAY, Senior Program Assistant Board on Health Sciences Policy Staff ANDREW M. POPE, Director STEPHANIE YOUNG, Program Coordinator (from January 2018) ix PREPUBLICATION COPY—Uncorrected Proofs

Reviewers This Proceedings of a Workshop was reviewed in draft form by indi- viduals chosen for their diverse perspectives and technical expertise. The purpose of this independent review is to provide candid and critical com- ments that will assist the National Academies of Sciences, Engineering, and Medicine in making each published proceedings as sound as possible and to ensure that it meets the institutional standards for quality, objectivity, evidence, and responsiveness to the charge. The review comments and draft manuscript remain confidential to protect the integrity of the process. We thank the following individuals for their review of this proceedings: GILLIAN HOOKER, Concert Genetics GEORGE MENSAH, National Heart, Lung, and Blood Institute (National Institutes of Health) DEAN REGIER, University of British Columbia ROBERT WILDIN, University of Vermont Health Network Although the reviewers listed above provided many constructive com- ments and suggestions, they were not asked to endorse the content of the proceedings nor did they see the final draft before its release. The review of this proceedings was overseen by MELVIN WORTH. He was responsible for making certain that an independent examination of this proceedings was carried out in accordance with standards of the National Academies and that all review comments were carefully considered. Responsibility for the final content rests entirely with the rapporteurs and the National Academies. xi PREPUBLICATION COPY—Uncorrected Proofs

Acknowledgments The support of the Roundtable on Genomics and Precision Health was crucial to the planning and conduct of the workshop on Implement- ing and Evaluating Genomic Screening Programs in Health Care Systems. Federal sponsors are the Air Force Medical Service; Department of Veterans Affairs; Health Resources and Services Administration; National Cancer Institute; National Human Genome Research Institute; National Institute of Mental Health; National Institute of Nursing Research; National Institute on Aging; and National Institutes of Health Office of Disease Prevention. Nonfederal sponsorship was provided by 23andMe; Accenture; American Academy of Nursing; American College of Medical Genetics and Genom- ics; American Medical Association; American Society of Human Genetics; Association for Molecular Pathology; Biogen; Blue Cross and Blue Shield Association; College of American Pathologists; Color Genomics; Eisai Inc.; Eli Lilly and Company; Illumina, Inc.; Johnson & Johnson; Marc Grodman; Merck & Co., Inc.; National Society of Genetic Counselors; and Northrop Grumman Health IT. The Roundtable on Genomics and Precision Health wishes to express gratitude to the members of the planning committee for their work in devel- oping an excellent workshop agenda and the expert speakers who explored how progress could be made in integrating genomics into large-scale health organizations. The project director would like to thank the project staff, who worked diligently to develop both the workshop and the resulting proceedings. xiii PREPUBLICATION COPY—Uncorrected Proofs

Contents ACRONYMS AND ABBREVIATIONS xix 1 INTRODUCTION 1 Overview of Cross-Cutting Topics Highlighted During Presentations and Discussions, 4 Organization of the Workshop and Proceedings, 7 2 EVIDENCE CONSIDERATIONS FOR INTEGRATING GENOMICS-BASED PROGRAMS INTO HEALTH CARE SYSTEMS 9 Lessons from a Genomic Screening Program: The Geisinger MyCode Community Health Initiative, 11 Integrating Genomic Programs into the Health Care System at Kaiser Permanente Northwest, 18 Alabama Genomic Health Initiative, 21 Genomic Medicine for the University of Vermont Health Network, 23 Discussion, 28 3 FINANCIAL CONSIDERATIONS FOR IMPLEMENTING GENOMICS-BASED SCREENING PROGRAMS 33 Clinical Costs and Effects of Genomic Screening, 34 The Value of Pharmacogenomic Panel Testing, 40 xv PREPUBLICATION COPY—Uncorrected Proofs

xvi CONTENTS Colorectal Cancer Screening and Return of Secondary Findings: A Value Framework Analysis, 44 Discussion, 47 4 EXPLORING APPROACHES TO OPTIMIZE DATA SHARING AMONG EARLY IMPLEMENTERS OF GENOMICS-BASED PROGRAMS 53 Data Sharing Lessons from the eMERGE Network, 55 Optimizing Data Sharing, 57 Implementing Pharmacogenomics in Europe, 59 Ideal Measures for Genomic Medicine Implementation Studies, 63 Discussion, 66 5 UNDERSTANDING PARTICIPANT NEEDS AND PREFERENCES AND IMPROVING DIVERSITY AND EQUITY 71 Participant Needs, Diversity, and Equity, 72 Engaging Diverse Populations in Genomics-Based Research, 76 Closing the Circle Between Research and the Community, 79 Discussion, 82 6 IMPROVING HEALTH THROUGH THE INTEGRATION OF GENOMICS-BASED PROGRAMS: POTENTIAL NEXT STEPS 87 A Model for Accelerating Evidence Generation for Genomic Technologies in a Learning Health Care System, 87 Policies and Infrastructure to Enable the Sharing of Genomic Data Across Institutions, 90 Potential Action Steps for Those Implementing Genomic Screening Programs, 94 REFERENCES 97 APPENDIXES A Workshop Agenda 103 B Speaker Biographies 113 C Statement of Task 123 D Registered Attendees 125 PREPUBLICATION COPY—Uncorrected Proofs

Boxes and Figures BOXES 1-1 Definitions Used by the Workshop Planning Committee in the Context of the Workshop, 2 1-2 Objectives Developed by the Workshop Planning Committee, 4 2-1 MyCode Genetic Screening and Cascade Testing Case Example, 13 3-1 Wilson and Jungner Screening Criteria, 35 4-1 CFIR Framework of Implementation Constructs and Sub- Constructs, 65 6-1 Areas Highlighted by Individual Speakers That the Roundtable and the Genomics Field Could Explore as a Way to Influence Data Sharing and Foster the Implementation of Genomics-Based Programs, 91 FIGURES 3-1 Considerations with regard to the return of genomic screening results performed on infants, 37 3-2 Projected likelihood of cost effectiveness, 43 6-1 Example of the evidence-generation model applied in a PCORnet setting, 90 xvii PREPUBLICATION COPY—Uncorrected Proofs

Acronyms and Abbreviations ACA Patient Protection and Affordable Care Act ACO accountable care organization ACMG American College of Medical Genetics and Genomics AML acute myeloid leukemia CDC Centers for Disease Control and Prevention CFIR Consolidated Framework for Implementation Research CMS Centers for Medicare & Medicaid Services COAG Clarification of Optimal Anticoagulation trial CPIC Clinical Pharmacogenetics Implementation Consortium CRCP colorectal cancer and polyposis CSER Clinical Sequencing Evidence-Generating Research consortium EGAPP Evaluation of Genomics Applications in Practice and Prevention initiative EHR electronic health record eMERGE Electronic Medical Records and Genomics Network FH familial hypercholesterolemia FQHC federally qualified health center GINA Genetic Information Nondiscrimination Act of 2008 GUARDD Genetic Testing to Understand and Address Renal Disease Disparities study xix PREPUBLICATION COPY—Uncorrected Proofs

xx ACRONYMS AND ABBREVIATIONS HBOC hereditary breast and ovarian cancer HIE health information exchange ICER incremental cost-effectiveness ratio IHC immunohistochemistry IGNITE Implementing Genomics in Practice network LDL low-density lipoprotein MSI microsatellite instability NHGRI National Human Genome Research Institute NIH National Institutes of Health OMOP Observational Medical Outcomes Partnership PACS picture archiving and communication system PCORI Patient-Centered Outcomes Research Institute PCORnet National Patient-Centered Clinical Research Network QALY quality-adjusted life year SNP single nucleotide polymorphism UAB University of Alabama at Birmingham U-PGx Ubiquitous Pharmacogenomics consortium UVM University of Vermont VA Department of Veterans Affairs VHA Veterans Health Administration PREPUBLICATION COPY—Uncorrected Proofs

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Genomic applications are being integrated into a broad range of clinical and research activities at health care systems across the United States. This trend can be attributed to a variety of factors, including the declining cost of genome sequencing and the potential for improving health outcomes and cutting the costs of care. The goals of these genomics-based programs may be to identify individuals with clinically actionable variants as a way of preventing disease, providing diagnoses for patients with rare diseases, and advancing research on genetic contributions to health and disease. Of particular interest are genomics- based screening programs, which will, in this publication, be clinical screening programs that examine genes or variants in unselected populations in order to identify individuals who are at an increased risk for a particular health concern (e.g., diseases, adverse drug outcomes) and who might benefit from clinical interventions.

On November 1, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to explore the challenges and opportunities associated with integrating genomics-based screening programs into health care systems. This workshop was developed as a way to explore the challenges and opportunities associated with integrating genomics-based programs in health care systems in the areas of evidence collection, sustainability, data sharing, infrastructure, and equity of access. This publication summarizes the presentations and discussions from the workshop.

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