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Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.

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Presentation on theme: "Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics."— Presentation transcript:

1 Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics

2 Personalized Medicine Research Project Ultimate Goal: –Translate genetic data into specific knowledge about disease that is clinically relevant and will enhance patient care Short term Goal: –Establish database to allow research in genetic epidemiology, pharmacogenetics, population genetics

3 Personalized Medicine Research Project Phase I: Consultation and initial enrollment, completed April 2004 Phase II: Creating the infrastructure for a national resource and expanding the database Phase III: Genetic discovery projects, community and physician education and consultation

4 Consultation Community Advisory Group Scientific Advisory Board Ethics and Security Advisory Board Focus group discussions Community talks Media releases

5 Why Marshfield? Marshfield Epidemiologic Study Area (MESA) –Well studied population –Primarily Marshfield Clinic patients –Many families have lived in MESA for many generations

6 Why Marshfield? Marshfield Clinic system of care Extensive Electronic Medical Record for two decades MECCA disease lexicon Electronic prescription data Research Foundation with strong programs in genomics and clinical research Security Health Plan to capture diagnoses outside the Marshfield Clinic 55% overall

7 Study Logistics MESA residents aged 18+ contacted by letter and telephone ( letters per week) participants per day (30 minute appts) Written informed consent and questionnaire Allows sharing of samples and data Consenting participants donate blood for DNA extraction, storage of plasma and serum $20 reimbursement for expenses (10% return) Dietary history questionnaire and Baecke physical activity questionnaire ($10)

8 Participant/Non- Participant Comparison 19,723 enrolled VariableParticipantsNon-Participants Mean age (range)47.5 ( )47.7 (18-101) Percent female57.2%49.4% Number of unique diagnoses in (11.3)12.2 (11.2) Mean diagnosis records in (44.1)30.4 (46.1)

9 Participant Demographics Race Caucasian, 98.2% American Indian, 0.9% Hispanic, 1.1% Asian, 0.5% Other, 0.3% African American, 0.3% Ethnicity German, 76.2% Irish, 17.3% English, 16.6% Other, 16.6% Polish, 12.6% Norwegian, 11.9% French, 9.8% Swedish, 6.8% Dutch, 6.4% Czech, 3.8%

10 Participant Residence Current –Working farm, 7.9% –Rural home or hobby farm, 30.2% –Suburb, city, village, 61.8% –Other, 0.1% Ever lived on a working farm, 51.7%

11 Participant Exposure Status Smoking status: –Current, 19.1% (22% in Wisconsin, 2003) –Past, 27.0% –Never, 53.4% Personal and/or family history of adverse drug reactions, 14% –55.3% rash –22.3% swelling –19.3% breathing problems –15.7% hospitalized (n=427)

12 Opt-out on Consent form 168/19,692 (0.9%) participants ask to not be contacted for future studies –65% agreed to complete dietary and physical activity questionnaires when asked

13 Distribution of Years of Health Information Available Majority has 20+ years of health data

14 Process to Access Samples Feasibility request for phenotype Scientific merit review –External peer-reviewed funding mechanism OR Marshfield Clinic Research Committee IRB review/approval for all studies Oversight Committee to release samples Funding is required for phenotyping and identification and retrieval of samples Data deposit within 6 months after completing analyses

15 Pharmacogenetics Projects Statin efficacy and adverse reactions Warfarin (blood thinner) Topical beta-blockers for glaucoma Metformin for diabetes Tamoxifen in breast cancer

16 Genetic Epidemiology Projects Alzheimers Disease Multiple sclerosis Vertebral malformations Fibromyalgia syndrome Osteoporosis Cataract and low HDL Hypertensive heart disease Glaucoma Myocardial infarction Coronary artery disease Dyslipidemia in severely obese subjects

17 Other Activities Molecular finger printing and master plating of DNA samples Quality control for serum and plasma samples Twice-yearly newsletter to subjects

18 Infrastructure Funding Office of Rural Health Policy, Health Resources and Services Administration 1 D1A RH Technology Development Fund Program, Department of Commerce, State of Wisconsin Marshfield Clinic Approximately $150 per person to enroll in Phase 1 Currently $250 per person to enroll with smaller staff

19 Summary Population-based biobank with nearly 20,000 adults enrolled DNA, plasma and serum samples Diet and activity questionnaires Access to electronic medical records Ability to recontact subjects Consent to share data and samples

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