Division of Public Health Information Dissemination
Center for Surveillance, Epidemiology, and Laboratory Services
Will Precision Medicine Improve Population Health?
From Precision Medicine to Precision Public Health
Muin J. Khoury MD, PhD
Office of Public Health Genomics
Centers for Disease Control and Prevention
JAMA, October 5, 2016
From Precision Medicine to Precision Public
Health: 3 Themes

Medicine-public health partnerships are needed to
improve population health

Public health is needed to implement genomics &
precision medicine to save lives and reduce health
disparities

We are entering a new era of precision public health
beyond “genes, drugs, and diseases”
How Much Does Healthcare Improve Population Health?
How Much Does Healthcare Improve Population Health?
Precision Medicine and Public Health:
I: Medicine-public health partnerships are needed to
improve population health
Medicine
Public Health
Individuals
Populations
Healthcare
Health
Clinical
Community
Treatment
Prevention
Genomics/Biology
Social/Environmental
Frieden TR. N Engl J Med 2015;373:1748-1754.
Health Impact Pyramid
Investing in the Future: NIH Funding Resource Allocation
Source: S. Galea
NIH RePORTER. Search results for projects for which funding data is
available. <http://projectreporter.nih.gov/reporter.cfm> Accessed on
November 20, 2014.
Precision Medicine and Public Health:
II. As medicine becomes more “precise”, we need
public health to help implement it!
Medicine
“An emerging
approach for disease
prevention and
treatment that takes
into account variations
in genes, environment
and lifestyle”
Precision
Medicine
Public Health
CDC Evidence-based Classification of Genomic Tests:
A Growing Number of Applications Ready for Prime Time
Tier 1
Supported by a base of synthesized evidence for
implementation in practice
e.g., Newborn
Screening, HBOC,
Lynch syndrome,
Familial
Hypercholesterolemia
Tier 2
Synthesized evidence is insufficient to support
routine implementation in practice; may provide
information for informed decision making
e.g., many
pharmacogenomic
tests
Tier 3
Evidence-based recommendations against use, or
no relevant synthesized evidence identified; not
ready for routine implementation in practice
e.g., direct-toconsumer personal
genomic tests
Dotson WD, Douglas MP, Kolor K, et al. Clin Pharmacol Ther. 2014 Apr; 95(4): 394–402.
List of applications by level of evidence on CDC Public Health Genomics Knowledge Base website:
https://phgkb.cdc.gov/GAPPKB/topicStartPage.do
Newborn Screening
The Largest Precision Public Health Program in the World
 More than 5 decades in the
US started with PKU
 State run public health
program that screens 4 million
newborns every year
 Identifies more than 10,000
babies with 30+ genetic,
metabolic & other disorders
 Complex system & policy
issues (public health,
healthcare, laboratories,
costs, etc…)
Selected Emerging Tier 1 Genomic Applications
Beyond Newborn Screening
 Familial Hypercholesterolemia, HBOC, Lynch
Syndrome
 2 million people in the US
 Many don’t know they have it
 Effective interventions reduce morbidity &
mortality
 Evidence-based recommendations
– Familial Hypercholesterolemia (NICE
Cascade screening)
– Hereditary Breast and Ovarian Cancer
(USPSTF high risk approach)
– Lynch Syndrome (EGAPP universal
colorectal cancer screening)
Public Health Role in Addressing
Challenges in Precision Medicine Implementation
Using Michigan State Cancer Registries for
Surveillance, Education, & Policy For Cancer Genetic
Services & Outcomes
Public Health Approaches to Reducing the Burden of
BRCA, Lynch Syndrome and FH
• Current
Recommendations (will
miss a lot of cases)
• Cascade Screening
• Population Screening?
– Actual (not
recommended yet)
– “Opportunistic”
2016
The US Precision Medicine Initiative:
“Opportunistic” Population Genetic Screening
Khoury MJ et al, JAMA, 2015
Precision Medicine and Public Health:
III. We are entering a new era of precision public
health “beyond genes, drugs & diseases”
Medicine
Public Health
Precision Medicine
Precision
Public Health
Conducting Public Health Functions With
More “Precision”
3 Core Public Health
Functions
• Assessment
– More “precision” in
measuring population
health problems
• Policy Development
– Developing the right
intervention for the right
population
• Assurance
– More “precision” in
delivering interventions &
addressing health
disparities
Khoury MJ, et al. AJPM, March 2016
CDC Advanced Molecular Detection (AMD)
Initiative
– 5-year
modernization
program
– Improve pathogen
detection and
characterization
– Develop new
diagnostics
– Support genomic and
bioinformatics needs
– Enhance, sustainable
integrated
information systems
– Tools for prediction,
modeling and early
recognition of
emerging infectious
threats
Listeria Cluster Metrics, Before and After WGS
93
AMD – Innovate * Transform * Protect
19
Pre-WGS (09/12--08/13)
21
WGS Year 1 (09/13--08/14)
WGS Year 2 (09/14-08/15)
14
9
6 6
0
No. of clusters
detected
2
4
6
4 3
No. of clusters
No. of outbreaks
Median no. of
detected sooner or solved (food
cases per cluster
only by WGS
source identified)
16
6
No. of cases linked
to food source
Courtesy: Brendan Jackson, Enteric Diseases Epidemiology Branch
From WGS to GPS in Public Health
Practice
“As cholera swept through London in the
mid-19th century, a physician named John
Snow painstakingly drew a paper map
indicating clusters of homes where the deadly
waterborne infection had struck. In an iconic
feat in public health history, he implicated the
Broad Street pump as the source of the
scourge—a founding event in modern
epidemiology. Today, Snow might have
crunched GPS information and disease
prevalence data and solved the problem
within hours”
http://www.hsph.harvard.edu/news/magazine/big-datas-bigvisionary/?utm_source=SilverpopMailing&utm_medium=email&utm_campa
ign=Kiosk%2009.25.14_academic%20(1)&utm_content
From Precision Medicine to Precision Public
Health: 3 Themes

Medicine-public health partnerships are needed to
improve population health

Public health is needed to implement genomics &
precision medicine to save lives and reduce health
disparities

We are entering a new era of precision public health
beyond “genes, drugs, and diseases”