Excerpt

[T]he workshop committee decided to focus on several key topics, including the analysis, interpretation, and delivery of genomic information to health care providers plus workforce, ethical, and legal issues. This workshop report summarizes the speakers' presentations and the discussions that followed them. It begins by providing an overview of the current state of the field of genomic medicine, of how approaches to basic and clinical research are changing, and of areas in which steps can be taken immediately to build the necessary infrastructure (Chapter 2). The next two chapters describe the discussions that took place concerning the analysis and interpretation of genomic data (Chapters 3 and 4), while the following three chapters examine practical issues: the delivery of genomic information (Chapter 5), ethical and legal issues (Chapter 6), and developing the necessary workforce skills and knowledge (Chapter 7). The last chapter describes panel discussions on how to maintain curated databases, the role of the field in public health, and how each stakeholder could be involved in helping address the current challenges (Chapter 8).

The main objective of this workshop was to start a discussion of what needs to be done to prepare the necessary infrastructure and to address the various challenges so that patients will be able to benefit from genomics-based research.

Contents

• THE NATIONAL ACADEMIES
• PLANNING COMMITTEE
• ROUNDTABLE ON TRANSLATING GENOMIC-BASED RESEARCH FOR HEALTH
• Reviewers
• Acknowledgments
• Abbreviations and Acronyms
• 1. Introduction
• 2. The Realization of Genomic Medicine
  • SHIFTING RESEARCH PARADIGMS
  • CLINICAL APPLICATIONS OF GENOMICS-BASED MEDICINE
  • ADDRESSING OBSTACLES AND DEFINING A PATH FORWARD
  • THE CLINSEQ PROJECT
  • AN EVOLUTION OF MEDICINE
• 3. The Analysis of Genomic Data
  • CHALLENGES FOR LABORATORIES
  • LABORATORY-BASED SOLUTIONS
  • MEANINGFUL USE OF TEST RESULTS
  • GENOMIC MEDICINE IN PRACTICE
• 4. The Interpretation of Genomic Data
  • DATA INTEPRETATION FROM A CLINICIAN'S PERSPECTIVE
  • INTEGRATING GENOMIC DATA WITH PATHOLOGY
  • USING A BIOINFORMATICS MODEL FOR INTERPRETATION
  • ENVISIONING CLINICAL GENOMICS IN 2020
• 5. The Delivery of Genomic Data
  • IMPLEMENTING PHARMACOGENETICS IN CLINICAL PRACTICE
  • GRANTING ACCESS TO PERSONAL HEALTH INFORMATION
  • ADVANCING THE UTILIZATION OF GENOMIC INFORMATION
  • BUILDING A BUSINESS CASE FOR GENETIC TESTING
• 6. Ethical and Legal Issues
  • REGULATORY ISSUES
  • ETHICAL ISSUES: THE DOCTOR–PATIENT RELATIONSHIP
  • PRIVACY ISSUES
  • OTHER ISSUES
• 7. Workforce Development
  • KNOWLEDGE, SKILL SETS, AND TRAINING OPPORTUNITIES
  • A GENERATION OF EFFORT
• 8. Envisioning the Future
  • MAINTAINING CURATED DATABASES
  • DATABASES FOR GENETIC VARIANTS INVOLVED IN CANCER
  • A PUBLIC HEALTH APPROACH TO GENOMIC MEDICINE
  • RETURN OF RESULTS
  • GETTING HEALTH CARE PROVIDERS INTERESTED
  • REIMBURSEMENT FOR INTERPRETATIVE SERVICES
  • THE ROLE OF INDUSTRY
  • FINAL WORDS
• References
• APPENDIXES
  • Appendix A Workshop Agenda
  • Appendix B Speaker Biographical Sketches
  • Appendix C Registered Attendees

Rapporteurs: Steve Olson, Sarah H. Beachy, Claire F. Giammaria, and Adam C. Berger

This project was supported by contracts between the National Academy of Sciences and the American College of Medical Genetics (unnumbered contract); American Medical Association (unnumbered contract); American Nurses Association (unnumbered contract); Blue Cross and Blue Shield Association (unnumbered contract); Centers for Disease Control and Prevention (Contract No. 200-2011-38807); College of American Pathologists (unnumbered contract); Department of the Air Force (Contract No. FA7014-10-P-0072); Department of Veterans Affairs (Contract No. V101(93) P-2238); Eli Lilly and Company (Contract No. LRL-0028-07); Genetic Alliance (unnumbered contract); Health Resources and Services Administration (Contract No. HHSH250201100119P); Johnson & Johnson (unnumbered contract); Kaiser Permanente (unnumbered contract); National Cancer Institute (Contract No. N01-OD-4-2139, TO#189); National Heart, Lung, and Blood Institute (Contract No. N01-OD-4-2139, TO#189); National Human Genome Research Institute (Contract No. N01-OD-4-2139, TO#189 and 264); National Society of Genetic Counselors (unnumbered contract); and Pfizer Inc. (Contract No. 140-N-1818071).

Suggested citation:

IOM (Institute of Medicine). 2012. Integrating Large-Scale Genomic Information into Clinical Practice: Workshop Summary. Washington, DC: The National Academies Press.

Any opinions, findings, conclusions, or recommendations expressed in this publication are those of the authors and do not necessarily reflect the views of the organizations or agencies that provided support for the project.

NOTICE: The project that is the subject of this report was approved by the Governing Board of the National Research Council, whose members are drawn from the councils of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine.