Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease
Committee on a Framework for Development a New Taxonomy of Disease; National Research Council
NAS Press | 2011 | ISBN: 0309222192 0309222222 9780309222228 9780309222198 | 121 pages | PDF | 4 MB

The report notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.

The report says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of disease and ultimately enhance diagnosis and treatment. The "new taxonomy" that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms.
The report adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia.

CONTENTS
SUMMARY
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
A 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: MILLION AMERICAN GENOMES INITIATIVE (MAGI)
EXAMPLE PILOT STUDY 2: METABOLOMIC PROFILES IN T2D
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
A STATEMENT OF TASK, WITH ADDITIONAL CONTEXT
B COMMITTEE BIOGRAPHIES
C MARCH 1& 2, 2011 - WORKSHOP AGENDA
D EMERGE CONSORTIUM DATA USE AGREEMENT
E GLOSSARY
BOXES AND FIGURES
FIGURE S-1: A KNOWLEDGE NETWORK OF DISEASE WOULD ENABLE A NEW TAXONOMY
BOX 1-1: STATEMENT OF TASK
BOX 1-2: A FLEXNERIAN MOMENT?
FIGURE 1-2: A INFORMATION COMMONS MIGHT USE A GIS-TYPE STRUCTURE
FIGURE 1-3. A KNOWLEDGE NETWORK OF DISEASE WOULD ENABLE A NEW TAXONOMY
FIGURE 2-1: THE PLUMMETING COST OF COMPLETE GENOME SEQUENCING
BOX 2-1: DISTINGUISHING TYPES OF LUNG CANCER
BOX 2-2: PROSPECTIVE COHORT STUDIES -A SPECIAL CASE
FIGURE 2-2: KNOWLEDGE OF NON-SMALL-CELL LUNG CANCER HAS EVOLVED SUBSTANTIALLY IN RECENT DECADES
BOX 2-3: EMERGE CONSORTIUM
BOX 2-4: PRECISIONMEDICINE FOR DRUG DEVELOPMENT
BOX 3-1: THE EXPOSOME
BOX 3-2: DISTINGUISHING DISEASE TYPES
BOX 3-3: INFORMATION TO GUIDE TREATMENT DECISIONS
FIGURE 3-1: BUILDING A BIOMEDICAL KNOWLEDGE NETWORK FOR BASIC DISCOVERY AND MEDICINE
Figure 4-1: Curriculum for biomedical graduate program—proposed new model