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Transcript
Wisconsin Genomics Initiative
Wisconsin
Medical
Discovery
Triangle
Wisconsin Medical Research Triangle
Wisconsin Genomics Initiative
Marshfield
MCRF
• Rural
Cohort
Comprised of 20,000
Adults
•Biomedical Informatics
• Phenotyping
UWSMPH
• Regenerative Medicine
•Statistical &
Computational Analysis
• Super-Computing
Capability
Madison
MCW
•Genetic & Genomic Analysis
• Diverse Urban & Pediatric
Patient Populations
•High Through-Put Genotyping
UW Milwaukee
• Urban & Environmental Health
• Community Engagement
• School of Nursing
Milwaukee
WGI Vision
• 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.
Predictive Personalized
Medicine
Predictive Model
for
Disease
Susceptibility
& Treatment
Response
Genetic,
Clinical,
&
Environmental
Data
Personalized
Treatment
Repeat for hundreds of diseases and treatments
Repeat for thousands of patients
State-of-the-Art
Machine
Learning
Individual
Patient
G+C+E
Building Accurate Predictive Models
G
Genetic

+
1,000,000 SNPs will hit
or be close to most
medically relevant
genetic markers
+
(
&
E
(Environmental Factors & Clinical Attributes)








Smoking
Diet
Exercise
Alcohol
Residence
Occupation
Socio-economic status
Chemical exposure





)=
C
Disease diagnoses
Exposure to:
- Viruses
- Bacteria
- Drugs not involved in medical
treatment
Treatment (medical)
- Current medications
- Past medications
- Vaccinations
- Other
Treatment (procedures)
Physiologic parameters
- Chemical measures (e.g., HDL,
cholesterol)
- Physical measures (e.g., weight,
height)
- Electrical activity (e.g., EKG)
- Imagining
=
P
Phenotype










Cardiovascular diseases
Diabetes
Obesity
Stroke
Cancer
Allergies and Asthma
Alzheimer’s
Childhood illnesses &
developmental disorders
Eye diseases
Other
 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 50,000person 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
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
communities
– 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
Summary
 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, to ensure the State’s continued
leadership in both discovery and application of personalized health
care, and to contribute to economic growth
 The Wisconsin Genomics Initiative is positioned to make the
promise of personalized medicine and personalized health care a
reality
 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