Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior...
-
Upload
sofia-corrington -
Category
Documents
-
view
216 -
download
0
Transcript of Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior...
![Page 1: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/1.jpg)
Transforming Health Care Through Personalized
Medicine
Catherine A. McCarty, PhD, MPHSenior Research Scientist
Interim Director, Center for Human Genetics
![Page 2: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/2.jpg)
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
![Page 3: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/3.jpg)
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
![Page 4: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/4.jpg)
Consultation
• Community Advisory Group• Scientific Advisory Board• Ethics and Security Advisory Board• Focus group discussions• Community talks• Media releases
![Page 5: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/5.jpg)
Why Marshfield? Marshfield
Epidemiologic Study Area (MESA)– Well studied
population– Primarily
Marshfield Clinic patients
– Many families have lived in MESA for many generations
![Page 6: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/6.jpg)
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
![Page 7: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/7.jpg)
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)
![Page 8: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/8.jpg)
Participant/Non-Participant Comparison
19,723 enrolled 6-1-08
Variable Participants Non-Participants
Mean age (range)
47.5 (18-98.5)
47.7 (18-101)
Percent female 57.2% 49.4%
Number of unique diagnoses in 2002
14.3 (11.3) 12.2 (11.2)
Mean diagnosis records in 2002
34.4 (44.1) 30.4 (46.1)
![Page 9: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/9.jpg)
Participant Demographics
• RaceCaucasian, 98.2%American Indian, 0.9%Hispanic, 1.1%Asian, 0.5%Other, 0.3%African American, 0.3%
• EthnicityGerman, 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%
![Page 10: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/10.jpg)
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%
![Page 11: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/11.jpg)
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)
![Page 12: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/12.jpg)
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
![Page 13: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/13.jpg)
Distribution of Years of Health Information
Available
0
20
40
60
80
100
Age (years)
Per
cen
tag
e
20+ years 15-19 years 10-14 years
5-9 years < 5 years
Majority has 20+ years of health data
![Page 14: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/14.jpg)
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
![Page 15: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/15.jpg)
Pharmacogenetics Projects
• Statin efficacy and adverse reactions• Warfarin (blood thinner)• Topical beta-blockers for glaucoma• Metformin for diabetes• Tamoxifen in breast cancer
![Page 16: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/16.jpg)
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
![Page 17: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/17.jpg)
Other Activities
• Molecular finger printing and master plating of DNA samples
• Quality control for serum and plasma samples
• Twice-yearly newsletter to subjects
![Page 18: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/18.jpg)
Infrastructure Funding Office of Rural Health Policy, Health
Resources and Services Administration1 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
![Page 19: Transforming Health Care Through Personalized Medicine Catherine A. McCarty, PhD, MPH Senior Research Scientist Interim Director, Center for Human Genetics.](https://reader036.fdocuments.net/reader036/viewer/2022062511/551a0885550346a4248b4767/html5/thumbnails/19.jpg)
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