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.

Contents

• The National Academies of SCIENCES • ENGINEERING • MEDICINE
• PLANNING COMMITTEE ON IMPLEMENTING AND EVALUATING GENOMIC SCREENING PROGRAMS IN HEALTH CARE SYSTEMS
• ROUNDTABLE ON GENOMICS AND PRECISION HEALTH
• Reviewers
• Acknowledgments
• Acronyms and Abbreviations
• Introduction
  • OVERVIEW OF CROSS-CUTTING TOPICS HIGHLIGHTED DURING PRESENTATIONS AND DISCUSSIONS
  • ORGANIZATION OF THE WORKSHOP AND PROCEEDINGS
• 2. Evidence Considerations for Integrating Genomics-Based Programs into Health Care Systems
  • LESSONS FROM A GENOMIC SCREENING PROGRAM: THE GEISINGER MYCODE COMMUNITY HEALTH INITIATIVE
  • INTEGRATING GENOMIC PROGRAMS INTO THE HEALTH CARE SYSTEM AT KAISER PERMANENTE NORTHWEST
  • ALABAMA GENOMIC HEALTH INITIATIVE
  • GENOMIC MEDICINE FOR THE UNIVERSITY OF VERMONT HEALTH NETWORK
  • DISCUSSION
• 3. Financial Considerations for Implementing Genomics-Based Screening Programs
  • CLINICAL COSTS AND EFFECTS OF GENOMIC SCREENING
  • THE VALUE OF PHARMACOGENOMIC PANEL TESTING
  • COLORECTAL CANCER SCREENING AND RETURN OF SECONDARY FINDINGS: A VALUE FRAMEWORK ANALYSIS
  • DISCUSSION
• 4. Exploring Approaches to Optimize Data Sharing Among Early Implementers of Genomics-Based Programs
  • DATA SHARING LESSONS FROM THE EMERGE NETWORK
  • OPTIMIZING DATA SHARING
  • IMPLEMENTING PHARMACOGENOMICS IN EUROPE
  • IDEAL MEASURES FOR GENOMIC MEDICINE IMPLEMENTATION STUDIES
  • DISCUSSION
• 5. Understanding Participant Needs and Preferences and Improving Diversity and Equity
  • PARTICIPANT NEEDS, DIVERSITY, AND EQUITY
  • ENGAGING DIVERSE POPULATIONS IN GENOMICS-BASED RESEARCH
  • CLOSING THE CIRCLE BETWEEN RESEARCH AND THE COMMUNITY
  • DISCUSSION
• 6. Improving Health Through the Integration of Genomics-Based Programs: Potential Next Steps
  • A MODEL FOR ACCELERATING EVIDENCE GENERATION FOR GENOMIC TECHNOLOGIES IN A LEARNING HEALTH CARE SYSTEM
  • POLICIES AND INFRASTRUCTURE TO ENABLE THE SHARING OF GENOMIC DATA ACROSS INSTITUTIONS
  • POTENTIAL ACTION STEPS FOR THOSE IMPLEMENTING GENOMIC SCREENING PROGRAMS
• References
• APPENDIXES
  • Appendix A. Workshop Agenda
  • Appendix B. Speaker Biographies
  • Appendix C. Statement of Task
  • Appendix D. Registered Attendees

Rapporteurs: Sarah Beachy, Theresa Wizemann, Meredith Hackmann, and Siobhan Addie.

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.