Wisconsin Genomics Initiative - Marshfield Clinic by qingyunliuliu


									 Wisconsin Genomics Initiative


Wisconsin Medical Research Triangle

                     • Rural
                  Comprised of 20,000
                •Biomedical Informatics              MCW
                    • Phenotyping
                                           •Genetic & Genomic Analysis
                                            • Diverse Urban & Pediatric
                                                Patient Populations
                                          •High Through-Put Genotyping
          • Regenerative Medicine
                •Statistical &
                                              UW Milwaukee
          Computational Analysis          • Urban & Environmental Health
             • Super-Computing               • Community Engagement
                 Capability                     • School of Nursing

                    WGI Vision

To be able to predict for individual patients in a clinical
setting the risks of disease susceptibility and treatment
response using the combined power of cutting edge
genetic, phenotypic, and environmental analyses.

Thereby, making the promise of personalized medicine
a reality for the citizens of Wisconsin and beyond.

                     WGI Goals

• Phase I
  Create the medical research infrastructure to build and
  test a unique scientific platform that is capable of
  predicting disease susceptibility and treatment response
  to a high degree of accuracy; and to make it widely
  available to scientists across the country.

• Phase II
  Use this unique scientific platform for discovery in
  multiple disease areas and treatment methods; and to
  improve its capability by expanding research cohorts,
  increasing the number of genetic markers, increasing
  the amount of environmental and clinical data, and
  improving the computational algorithms.

        WGI Cores and Major Functions

Bio-Repository and Bio-Specimen Core         WGI Data Warehouse and User Interface
(MCRF)                                       Core (MCRF)
 Maintain & provide high quality biologic    Maintain genetic, phenotypic, and
   samples                                     environmental information databases
 Develop an analyte database from PMRP       Develop and maintain the search engines
   serum samples                               to use data efficiently for discovery
 Develop methods to harmonize inclusion      Maintain interface with scientists using
   of new bio-repositories                     WGI data

Genetic & Genomic Analysis Core (MCW)        Statistical & Computational Analysis Core
 Conduct genetic & genomic analysis         (UWSMPH)
 Identify 1,000,000 genetic markers on       Build predictive computational models
  each of the 20,000 PMRP subjects            Conduct computational analysis for initial
                                                predictive studies
                                              Conduct a genome wide association
                                                study (GWAS)

Phenotyping Core (MCRF)                      Urban Personalized Healthcare Cohort
 Validate target phenotypes and selected    Core (MCW & UW-Milwaukee)
  clinical/environmental data on PMRP         Plan the enrollment of an urban,
  cohort using electronic medical record        economically diverse, ethnically diverse
 Develop data resources and tools to           cohort for Phase II implementation
  enhance phenotyping efforts                 Conduct population & community
                                              Establish a Community Advisory Board         5
        Predictive Personalized                                     G+C+E

                                                                                     Repeat for thousands of patients
                                                                  Predictive Model
                                                                    & Treatment


                 Repeat for hundreds of diseases and treatments
                                   Building Accurate Predictive Models

                G              +     (                     E       &                   C                    )=                 P
 Genetic           +           (Environmental Factors & Clinical Attributes)                            =   Phenotype

    1,000,000 SNPs will hit      Smoking                        Disease diagnoses                           Cardiovascular diseases
     or be close to most          Diet                           Exposure to:                                Diabetes
     medically relevant           Exercise                        - Viruses                                   Obesity
     genetic markers              Alcohol                         - Bacteria                                  Stroke
                                  Residence                       - Drugs not involved in medical             Cancer
                                  Occupation                         treatment                                Allergies and Asthma
                                  Socio-economic status          Treatment (medical)                         Alzheimer’s
                                  Chemical exposure               - Current medications                       Childhood illnesses &
                                                                   - Past medications                           developmental disorders
                                                                   - Vaccinations                              Eye diseases
                                                                   - Other                                     Other
                                                                  Treatment (procedures)
                                                                  Physiologic parameters
                                                                   - Chemical measures (e.g., HDL,
                                                                   - Physical measures (e.g., weight,
                                                                   - Electrical activity (e.g., EKG)
                                                                   - Imagining

 Complex combinations of variables are required for accurate prediction
 The more we know about individual patients, greater the probability of prediction
       What Makes WGI Unique Among
      Large Genetic Research Projects?
• Is a natural laboratory
• PMRP is a population-based study with a stable population
• PMRP cohort is consented for ongoing clinical data collection
  over a lifetime through Electronic Health Record
• High level of compliance for recommended health screenings to
  classify controls
• Genome Wide Association Studies using Machine Learning
• Through the Governor’s eHealth Care Quality and Patient Safety
  Initiative, Wisconsin will be among the first states to have
  statewide adoption of electronic health record standards and
  capability for statewide health information exchanges
• As a natural laboratory and with eHealth exchange capability,
  WGI can expand dramatically and efficiently beyond the planned
  50,000-person combined rural, urban, and children’s cohorts
                     Why Wisconsin?

• Approximately 2% of US population providing size, manageability,
  and representativeness
• With additional subject recruitment in Milwaukee, WGI will have
  breadth of research cohorts
    –   Rural and Urban
    –   Northern European and Minorities
    –   Adults and Children
    –   Economically advantaged and disadvantaged
• A value-added project, does not start from scratch
    – The major elements of the strategy are in place, including the DNA
      samples, genotyping capability, phenotyping protocols, machine learning
      algorithms, and super-computing capabilities
    – Can begin immediately upon funding and will have meaningful results
      within 2 years
• WGI and the Wisconsin Action Plan for Health Care Quality and
  Safety are mutually supportive
• Intellectual capital strong and able to grow with an influx of resources

                     Benefits to the State

• Leadership in an international movement to transform health care
  delivery using the human genome
• Save lives and improve medical care
• Reduce health care costs
• Develop heath care education programs here first, drawing talent
  from all over the globe
• Strengthen the economy
   •   Increased research dollars
   •   Creation of “spin-off” companies and new high tech jobs
   •   Attractive location for pharmaceutical companies
• Additional benefits for urban populations and underserved
   – Addresses unique health care issues of urban populations
   – Increases access to health care for all by making it more affordable
   – Studies those chronic diseases that are increasingly devastating families in
     underserved communities

• Wisconsin has in its Medical Research Triangle all of the resources
  necessary to make a major advancement in the application of
  genetic science to human health

• The Wisconsin Genomics Initiative is positioned to make the
  promise of personalized medicine and personalized health care a

• The Wisconsin Genomics Initiative aligns with the priorities of the
  National Institutes of Health, the US Department of Health and
  Human Services, and the State of Wisconsin

• The Wisconsin Genomics Initiative offers a rare opportunity to bring
  the UW School of Medicine and Public Health, the Medical College
  of Wisconsin, UW-Milwaukee, and Marshfield Clinic together to meet
  important scientific and public health needs


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