Excerpt

A Knowledge Network of Disease could embrace and inform rapidly expanding efforts by the biomedical research community to define at the molecular level the disease predispositions and pathogenic processes occurring in individuals. This network has the potential to play a critical role across the globe for the public-health and health-care-delivery communities by enabling development of a more accurate, molecularly-informed taxonomy of disease.

Contents

• THE NATIONAL ACADEMIES
• COMMITTEE ON A FRAMEWORK FOR DEVELOPING A NEW TAXONOMY OF DISEASE
• BOARD ON LIFE SCIENCES
• Acknowledgments
• Summary
  • CONCLUSIONS
  • RECOMMENDATIONS
• 1. Introduction
  • THE CURRENT OPPORTUNITY
  • THE CHARGE TO THE COMMITTEE
  • A BRIEF HISTORY OF DISEASE TAXONOMIES
  • THE TAXONOMIC NEEDS OF THE BIOMEDICAL RESEARCH AND MEDICAL PRACTICE COMMUNITIES
  • MISSED OPPORTUNITIES OF CURRENT TAXONOMIES
  • AN INFORMATION COMMONS, A KNOWLEDGE NETWORK, AND A NEW TAXONOMY THAT WOULD INTEGRATE MANY TYPES OF INFORMATION AND SERVE ALL STAKEHOLDERS
  • RATIONALE AND ORGANIZATION OF THE REPORT
• 2. Why Now?
  • BIOLOGY HAS BECOME A DATA-INTENSIVE SCIENCE
  • THE OPPORTUNITY TO INTEGRATE DATA-INTENSIVE BIOLOGY WITH MEDICINE
  • THE URGENT NEED TO BETTER UNDERSTAND PHENOTYPE-GENOTYPE CORRELATIONS
  • DRAMATIC ADVANCES IN INFORMATION TECHNOLOGY ARE DRIVING SYSTEMIC CHANGE
  • GATHERING INFORMATION FROM INFORMAL DATA SOURCES
  • INTEGRATING CLINICAL MEDICINE AND BASIC SCIENCE
  • MULTIPLE STAKEHOLDERS ARE READY FOR CHANGE
  • PUBLIC ATTITUDES TOWARD INFORMATION AND PRIVACY ARE IN FLUX
  • THE PROPOSED KNOWLEDGE NETWORK OF DISEASE COULD CATALYZE CHANGES IN BIOLOGY, INFORMATION TECHNOLOGY, MEDICINE, AND SOCIETY
• 3. What Would a Knowledge Network and New Taxonomy Look Like?
  • THE KNOWLEDGE NETWORK OF DISEASE WOULD INCORPORATE MULTIPLE PARAMETERS AND ENABLE A TAXONOMY HEAVILY ROOTED IN THE INTRINSIC BIOLOGY OF DISEASE
  • THE INFORMATION COMMONS ON WHICH THE KNOWLEDGE NETWORK AND NEW TAXONOMY WOULD BE BASED WOULD INCORPORATE MUCH INFORMATION THAT CANNOT PRESENTLY BE DESCRIBED IN MOLECULAR TERMS
  • THE PROPOSED KNOWLEDGE NETWORK OF DISEASE WOULD INCLUDE INFORMATION ABOUT PATHOGENS AND OTHER MICROBES
  • THE PROPOSED KNOWLEDGE NETWORK OF DISEASE WOULD GO BEYOND DESCRIPTION
  • A HIERARCHY OF LARGE DATASETS WOULD BE THE FOUNDATION OF THE KNOWLEDGE NETWORK OF DISEASE AND ITS PRACTICAL APPLICATIONS
  • THE PROPOSED KNOWLEDGE NETWORK WOULD FUNDAMENTALLY DIFFER FROM CURRENT BIOMEDICAL INFORMATION SYSTEMS
  • A KNOWLEDGE NETWORK OF DISEASE WOULD CONTINUOUSLY EVOLVE
  • THE NEW TAXONOMY WOULD REQUIRE CONTINUOUS VALIDATION
  • THE NEW TAXONOMY WOULD DEVELOP IN PARALLEL WITH THE CONTINUED USE OF CURRENT TAXONOMIES
  • THE PROPOSED INFORMATIONAL INFRASTRUCTURE WOULD HAVE GLOBAL HEALTH IMPACT
• 4. How Do We Get There?
  • A NEW DISCOVERY MODEL FOR DISEASE RESEARCH
  • PILOT STUDIES SHOULD DRAW UPON OBSERVATIONAL STUDIES
  • EXAMPLE PILOT STUDY 1: THE MILLION AMERICAN GENOMES INITIATIVE (MAGI)
  • EXAMPLE PILOT STUDY 2: METABOLOMIC PROFILES IN TYPE 2 DIABETES
  • ANTICIPATED OUTCOMES OF THE PILOT STUDIES
  • A RESEARCH MODEL BASED ON OPEN DATA SHARING REQUIRES CHANGES TO DATA ACCESS, CONSENT, AND SHARING POLICIES
  • PRECOMPETITIVE COLLABORATIONS
  • COMPETITION AND SHARING IN THE HEALTH-CARE SYSTEM
  • THE DEVELOPMENT OF A KNOWLEDGE NETWORK OF DISEASE WILL REQUIRE AND INFORM THE EDUCATION OF HEALTH-CARE PROVIDERS AT ALL LEVELS
• 5. Epilogue
• References
• APPENDIXES
  • Appendix A The Statement of Task with Additional Context
  • Appendix B Committee Biographies
  • Appendix C March 1& 2, 2011—Workshop Agenda
  • Appendix D eMERGE Consortium Data Use Agreement
  • Appendix E Glossary

This study was supported by Contract/Grant No. N01-0D-4-2139 between the National Academy of Sciences and the National Institutes of Health.

Any opinions, findings, conclusions, or recommendations expressed in this publication are those of the author(s) 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. The members of the Committee responsible for the report were chosen for their special competences and with regard for appropriate balance.