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Transforming Health Care Through Personalized Medicine. Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics. Personalized Medicine Research Project. Ultimate Goal:
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Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics
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
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
Consultation • Community Advisory Group • Scientific Advisory Board • Ethics and Security Advisory Board • Focus group discussions • Community talks • Media releases
Marshfield Epidemiologic Study Area (MESA) Well studied population Primarily Marshfield Clinic patients Many families have lived in MESA for many generations Why Marshfield?
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
Study Logistics • MESA residents aged 18+ contacted by letter and telephone (600-1000 letters per week) • 30-90 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)
Participant/Non-Participant Comparison19,723 enrolled 6-1-08
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% Participant Demographics
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%
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)
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
Distribution of Years of Health Information Available Majority has 20+ years of health data
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
Pharmacogenetics Projects • Statin efficacy and adverse reactions • Warfarin (blood thinner) • Topical beta-blockers for glaucoma • Metformin for diabetes • Tamoxifen in breast cancer
Genetic Epidemiology Projects • Alzheimer’s 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
Other Activities • Molecular finger printing and master plating of DNA samples • Quality control for serum and plasma samples • Twice-yearly newsletter to subjects
Infrastructure Funding • Office of Rural Health Policy, Health Resources and Services Administration 1 D1A RH00025-01 • 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
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