Wisconsin Genomics Initiative

Wisconsin Medical Research Triangle

WisconsinMedical

DiscoveryTriangle

MCW•Genetic & Genomic Analysis• Diverse Urban & Pediatric

Patient Populations•High Through-Put Genotyping

UW Milwaukee• Urban & Environmental Health

• Community Engagement• School of Nursing

Wisconsin Genomics Initiative

Marshfield

MadisonMilwaukee

UWSMPH• Regenerative Medicine

•Statistical & Computational Analysis

• Super-Computing Capability

MCRF• Rural Cohort

Comprised of 20,000 Adults

•Biomedical Informatics• Phenotyping

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 PersonalizedMedicine

Repeat for hundreds of diseases and treatments

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PersonalizedTreatment

Individual Patient

G + C + E

Predictive Model for

Disease Susceptibility& TreatmentResponse

State-of-the-ArtMachine Learning

Genetic,Clinical,

&Environmental

Data

Building Accurate Predictive Models

Complex combinations of variables are required for accurate prediction The more we know about individual patients, greater the probability of prediction

Genetic + (Environmental Factors & Clinical Attributes) = Phenotype 1,000,000 SNPs will hit

or be close to most medically relevant genetic markers

Smoking Diet Exercise Alcohol Residence Occupation Socio-economic status Chemical exposure

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

Cardiovascular diseases Diabetes Obesity Stroke Cancer Allergies and Asthma Alzheimer’s Childhood illnesses &

developmental disorders Eye diseases Other

(+ & )=PP

EE CCGG

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

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

Why Wisconsin?

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