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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
Human
Genome
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
Human
Genome
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.	
  

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