The Precision Medicine Revolution (Geoffrey Ginsburg)

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This document discusses genomic and precision medicine. It begins by highlighting early examples of precision medicine through identifying risk factors for diseases. It then outlines the progression from the Human Genome Project to using genomic and other individual data to optimize clinical care through tools like sequencing, data integration and analytics. The document concludes by noting some challenges to implementing genomic and precision medicine in healthcare settings, such as institutional acceptance, access to expertise and testing, integration with electronic health records, and establishing evidence through outcomes studies.

Saúde e medicina

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
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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