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Genomic and Precision Medicine: The Future is Now
Geoffrey S Ginsburg MD PhD
Professor of Medicine and Biomedical Engineering Center for Applied Genomics & Precision Medicine
Duke MEDx Duke University
October 19, 2015
@PersonalizedMed
APPLIED GENOMICS & PRECISION MEDICINE
APPLIED GENOMICS & PRECISION MEDICINE
Early Precision Medicine: “Factors of Risk”
Factors of Risk in the Development of
Coronary Heart Disease—Six-‐Year Follow-‐up
Experience
Kannel WB et al. November 1961
§ High blood pressure § Increased cholesterol § Smoking
§ Diabetes § Family history
§ Male sex
Source: Kannel WB et al. Ann Intern Med 1961;55:33−50.
APPLIED GENOMICS & PRECISION MEDICINE
The Path to Better Health Care
HumanGenome Project
Precision Health
Realizing the Promise of Genomic Medicine
How to use genomic information about an individual to optimize their clinical care ?
?
APPLIED GENOMICS & PRECISION MEDICINE
The Path to Better Health Care
HumanGenome Project
Precision Health
Realizing the Promise of Genomic Medicine
How to use genomic and other information about an individual to optimize their clinical care?
Sequencing
Learning Health Systems
mHealth and eHealth
Big Data & AnalyIcs
PaIent Engagement
Advanced Therapies & DiagnosIcs
APPLIED GENOMICS & PRECISION MEDICINE
Data Integration and Analytics Will Enable Precision Medicine
Exposure Data
Electronic Health
Records
DATA MART Omics, Imaging
Data
Social
Network Data
Sensor Data
Geo-spatial Data
Predictive Modeling Discovery Individual and Population
Management Tools
APPLIED GENOMICS & PRECISION MEDICINE
Challenges in Genomic and Precision Medicine Implementation
• InsItuIonal, clinician, and paIent acceptance • Access to experIse and tesIng • EHR integraIon of genomic/mHealth
informaIon and clinical decision support • Data liquidity, standards, and security • Outcomes studies for evidence generaIon • Reimbursement
Genet Med 2013; 15:258-‐67.