National Office of Public Health Genomics
Translating Genomic Discoveries into
Population Health Benefits
At A Glance
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“The new discipline of public health genomics
represents the best approach for translating exciting genomic discoveries
into appropriate actions for preventing disease and promoting health for
individuals, families, and communities.”
Muin J. Khoury, MD, PhD
Director, National Office of Public Health Genomics, Centers for Disease
Control and Prevention
The Importance of Genomics
What is Genomics?
Genetics is the study of inheritance, or the way traits are passed
down from one generation to another. Genes carry the instructions for making
proteins, which direct the activities of cells and functions of the body and
influence human traits (e.g., hair and eye color) and susceptibility to
diseases. Genomics is the study of all the genes in a person, as well
as the interactions of those genes with each other and a person’s
environment. All people are 99.9% identical in genetic makeup, but
differences in the remaining 0.1% hold important clues about health and
The study of genomics is likely to help doctors and other health care
professionals understand why some people get sick from certain infections,
environmental factors, and behaviors while others do not. This information
could lead to new and better ways to improve health and prevent diseases for
individuals and populations.
Human Genome Research
The human genome is a person’s complete set of DNA. In 2003, researchers
completed the 13-year Human Genome Project, which identified approximately
25,000 genes in human DNA. Much of this information is being transferred to
the private sector to foster development of new medical applications. The
project was coordinated by the U.S. Department of Energy and the National
Institutes of Health (NIH), with support from international partners.
Now that the thousands of variations in human genes have been identified,
researchers are studying these variations for associations with diseases of
major public health importance, including chronic diseases such as heart
disease, diabetes, stroke, and cancer, as well as infectious, environmental,
and occupational diseases. Taking into account all factors that determine
disease, it can be said that 100% of human disease results from the
interactions between genetics and environment.
CDC’s National Leadership
CDC is committed to ensuring that all people, especially those at greater
risk for health disparities, will achieve their optimal lifespan with the
best possible quality of health in every stage of life. With agency-wide
health protection goals that support healthy people in healthy places across
all life stages, CDC is setting the agenda to enable people to enjoy a
healthy life by delaying death and the onset of illness and disability by
accelerating improvements in public health.
Through the National Office of Public Health Genomics (NOPHG), CDC
provides national and international leadership in public health genomics
while building partnerships with other federal agencies, state health
departments, public health organizations, professional groups, and the
sector. In fiscal year 2008, Congress allocated $12 million to support
NOPHG’s goals and initiatives.
Public health genomics is a multidisciplinary field focused on the
effective and responsible translation of genome-based knowledge and
technologies into health care practices to improve population health. It
uses population data on genetic variation and gene-environment interactions
to develop evidence-based tools for improving health and preventing disease.
NOPHG’s mission is to integrate genomics into public health research,
policy, and programs. Doing so could improve interventions designed to
prevent and control the country’s leading chronic, infectious,
environmental, and occupational diseases. Our efforts include conducting
population-based genomic research, assessing the role of family history in
determining risk and preventing disease, and evaluating genetic tests.
Genomics in Practice
Family History Public Health Initiative
People who have close relatives with common diseases such as heart
disease, diabetes, and cancer are more likely to develop those diseases
themselves. According to the 2004 Healthstyles survey, 96% of Americans
believe that knowing their family history is important to their health. Yet
only about 30% say they have ever tried to gather and organize this
information. In 2002, NOPHG started the Family History Public Health
Initiative to increase awareness of family history as a major risk factor
for common chronic diseases. The initiative also promotes use of family
history in programs designed to reduce the chronic disease burden in the
In 2007, NOPHG analyzed data from the National Health and
Nutrition Examination Survey (NHANES) to assess the risk for common chronic
diseases and conditions in the U.S. population that can be attributed to
family health history. NOPHG found that people with a moderate or high risk
for diabetes because of family history were 2.3 and 5.5 times, respectively,
more likely to have diabetes than people with average risk. This risk was
independent of a person’s sex, race/ethnicity, age, body mass index, blood
pressure, income, or education.
NOPHG also found that 19.8% of U.S. women aged 20 years or
older had a family history of osteoporosis. Women aged 35 years or older
with a family history of osteoporosis were 2.3 times more likely to have the
disease. The association grew stronger (to 8.4 times) when two or more close
relatives had a family history of osteoporosis.
Evaluation of Genomics Applications in Practice and
The EGAPP initiative was launched by NOPHG to establish and test a
systematic, evidence-based process for evaluating genetic tests and other
applications of genomic technology that are in transition from research to
clinical and public health practice.
EGAPP activities are focused around the independent,
nonfederal EGAPP Working Group established in May 2005. These activities
include optimization of methods and processes for evidence review to deal
with complex and rapidly emerging technologies; identification,
prioritization, and selection of topics; participation on technical expert
panels that guide conduct of evidence reports; and development of
recommendation statements for clinicians based on the evidence.
In 2007, four CDC-funded evidence reports were completed for
the EGAPP Working Group by Evidence-Based Practice Centers (EPCs), through
an interagency agreement with the Agency for Healthcare Research and Quality
(AHRQ). These reports are Genomic Tests for Ovarian Cancer Detection and
Management, Testing for Cytochrome P450 (CYP450) Polymorphisms in Adults
With Non-Psychotic Depression Treated With Selective Serotonin Reuptake
Inhibitors (SSRIs), Hereditary Nonpolyposis Colorectal Cancer: Diagnostic
Strategies and Their Implications, and Impact of Gene Expression
Profiling Tests on Breast Cancer Outcomes.
In December 2007, the first in a series of EGAPP Working
Group recommendation statements, on CYP450 testing in patients with
depression treated with SSRIs, was accepted for publication in Genetics in
Medicine. Other EGAPP accomplishments for 2007 include the establishment of
the EGAPP Stakeholders Group and creation of an independent EGAPP Web
site(http://www.egappreviews.org), which hosts products of the EGAPP Working
NHANES Collaborative Genomics Project
In 2002, CDC and NIH’s National Cancer Institute (NCI) began a collaboration
to measure population variation in selected genes using stored DNA samples
collected during the third NHANES. In 2007, CDC and NCI laboratories
completed the genotyping of 90 variants in 50 genes and successfully
deposited the results at CDC’s National Center for Health Statistics (NCHS).
Researchers at NCHS are now conducting statistical analysis
for about 35 genotype-phenotype correlation studies. The first publication
of this study, “Prevalence in the United States of Variants in Genes of
Public Health Importance: Third National Health and Nutrition Examination
Survey (NHANES III), 1991–1994,” is anticipated for 2008.
Public Health Investigations
In 2006, NOPHG provided seed funding for 11 innovative CDC projects to
integrate genomics into their research and programs. Project topics included
infectious disease, chronic disease, birth defects, pharmacogenomics, and
environmental exposures. CDC extended funding for nine of these projects in
2007, and researchers expect to finish genotyping and data analysis in 2008.
Human Genome Epidemiology Network (HuGENet)
NOPHG established HuGENet in 1998 to help translate genetic research
findings into practice for preventive medicine and public health. The
network is intended to help advance the synthesis, interpretation, and
dissemination of population data on human genetic variation in health and
HuGENet achievements in 2007 include the following:
A HuGENet short course was held in the United Kingdom,
and a workshop on the Assessment of Cumulative Evidence on Genetic
Associations was held in Italy.
HuGENet collaborators published 14 articles on genomic
research topics in scientific journals.
Eleven HuGE reviews were published by authors in the
United States and five other countries, reflecting the network’s global
reach. Reviews are available for free at
NOPHG launched HuGE Navigator, an up-to-date, online
knowledge base on human genome epidemiology. HuGE Navigator is primarily
for researchers in public health genomics and other related disciplines.
It is available at http://www.hugenavigator.net.
Direct-to-Consumer Nutrigenomic Tests
Direct-to-consumer genetic tests are increasingly
available and may improve confidentiality, convenience, and
accessibility. Amid ethical concerns and an uncertain
regulatory landscape, the future of this mode of delivery is
unclear. One class of products, nutrigenomic tests, is used
to analyze DNA and lifestyle habits to assess health risks.
In 2006, NOPHG used two national surveys, HealthStyles and
DocStyles, to collect data on awareness and use of such
tests among U.S. consumers and doctors. Results showed that
14% of consumers were aware of these tests, and 0.6%
reported using them. Awareness was higher (44%) among
doctors. Of these doctors, 41% had never had a patient ask
about the tests, and 74% had never discussed the results of
these tests with a patient. These data will help researchers
understand and track public demand for these tests, as well
as their potential for harm, and will provide a historical
reference of trends in awareness and use over time.
Building Public Health Genomics Capacity
State Genomics Programs
Since 2003, NOPHG has supported genomics programs in health departments
in Michigan, Minnesota, Oregon, and Utah to integrate genomics knowledge
(e.g., genetic risk factors)
and tools (e.g., family history assessments) into chronic disease prevention
programs and core public health functions. Program achievements in 2007
include the following:
The Michigan Department of Community Health collaborated
with Michigan State University to launch a pilot mortality review system
to assess sudden cardiac death among young people aged 1–29 years in
Michigan. This project is designed to raise awareness and increase
prevention among people at high risk by identifying health care system
changes and family-based interventions.
The Minnesota Department of Health worked with
University of Minnesota’s School of Public Health to organize three new
courses and a roundtable session on public health genomics as part of
the annual Summer Public Health Institute. These activities build
genomics capacity by educating the public health workforce on the
importance and application of genomics principles in research, practice,
and policy development.
Centers for Genomics and Public Health
Since 2005, NOPHG has funded Centers for Genomics and Public Health at the
University of Michigan and the University of Washington. These centers
provide expertise in translating genomic information into usable public
health knowledge and technical assistance to state and community public
health agencies. They also help states integrate genomics into programs and
Center achievements in 2007 include the following:
The Michigan center led development of the new Genomics
Forum of the American Public Health Association to promote workforce
competency in genomics; increase awareness and knowledge of genetic
services; and participate in policy development, advocacy, and
networking. More information is available at
The Washington center launched a newsletter to educate
and update public health practitioners, doctors, and the public on
topics in genomics. The newsletter is distributed to libraries and
medical clinics statewide.
Public Health Genomics Seminar Series
During 2007, NOPHG organized a seminar series called Public Health Genomics:
Closing the Gap Between Human Genome Discoveries and Population Health. The
series was presented in partnership with the NCI, the National Human Genome
Research Institute, the National Institute for Child Health and Development,
and the Office of Behavioral and Social Sciences Research.
The goal of the series was to educate health researchers and
practitioners about public health genomics. Nine seminars were conducted
throughout the year at NIH and broadcast live at CDC. Videocasts,
presentations, and selected articles are available online at http://www.cdc.gov/genomics/events/special1.htm.
NOPHG’s vision for public health genomics at CDC in the next
10 years is to accelerate the evaluation of new research findings and
applications in genomics that can be used to improve health and prevent
disease in the U.S. population. NOPHG will enhance collaborations with other
CDC programs to integrate this knowledge appropriately into their goals and
plans. We will strengthen our efforts to engage and educate health care
providers and consumers about genomics, genetics, and family history to help
them make decisions about health and health care. We also will expand
national and international partnerships to further integrate genomics into
policy, research, and programs.
For more information please contact
Centers for Disease Control and Prevention
National Center for Chronic Disease Prevention and Health Promotion
4770 Buford Highway NE, Mail Stop K–89, Atlanta, GA 30341-3717
Telephone: 770-488-8510 • Fax: 770-488-8355s
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Page last reviewed: February 13, 2008
Page last modified: February 13, 2008
Content source: National Center for
Chronic Disease Prevention and Health Promotion