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GENOMICS
Successes and Opportunities for Population-Based Research and Practice
At A Glance
2009
What is Genomics?
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 disease. 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.
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.
“Translating the knowledge we are gaining from gene discoveries
into practical clinical and public health applications will
be critical for realizing the potential of personalized health
care
and improving the health of the nation.”
Muin J. Khoury, MD, PhD
Director, Office of Public Health Genomics, CDC |
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CDC's Response
CDC works to integrate human genome knowledge into public health
research, policy, and programs. Through the Office of Public Health Genomics
(OPHG), CDC strives to improve interventions designed to prevent disease and
improve the public’s health by
- Conducting population-based genomics research.
- Assessing the role of family health history.
- Supporting the evaluation of genetic tests.
- Translating genomic knowledge.
Conducting Population-Based Genomics Research
Population-based genomics research examines the role that genetic
differences play on disease risk and helps to identify associations between
genes and factors such as diet and environmental exposures. These studies
may help us understand which populations are more susceptible to disease, as
well as help us improve their health and treatment outcomes. Examples of
OPHG research include
- In 2008, OPHG reported genetic prevalence estimates by age, sex, and
race/ethnicity among non-Hispanic whites, non-Hispanic blacks, and
Mexican Americans in a nationally representative sample of the U.S.
population collected from participants in the Third National Health and
Nutrition Examination Survey (NHANES III). These estimates provide the
foundation for a comprehensive data bank of human genetic variation,
which can be used as a reference for future population-based genomic
studies.
- OPHG provides funding to other CDC programs to integrate genomics
into their public health studies. New projects funded in 2008 will
examine the role of genetics and genomics in autism, maternal and child
health, hearing loss, and chronic beryllium disease (a disease primarily
affecting the lungs, caused by exposure to beryllium, a metal found in
coal, oil, certain rock minerals, and soil).
OPHG tools for researchers include
- HuGE Navigator, an up-to-date knowledge base in human genome
epidemiology, with information on population prevalence of genetic
variants, gene-disease associations, gene-gene and gene-environment
interactions, and evaluation of genetic tests. The HuGE Navigator
contains more than 30,000 scientific articles on human genome
epidemiology(http://www.hugenavigator.net).
- HuGE Reviews, systematic reviews of research findings on
particular gene-disease associations, which are published in partnership
with 10 scientific journals. These reviews
typically point to gaps in existing epidemiologic and clinical
knowledge, thus stimulating further research in these areas. In 2008,
four HuGE reviews were published. Thirteen HuGE reviews are anticipated
in 2009 on genetic risk factors and pregnancy and childbirth, mental
disorders and epilepsy, lung cancer, and general cancer risk.
- HuGENet™, a global collaboration of investigators around the
world. Genomics researchers can become involved by undertaking
systematic reviews and participating in meetings and workshops.
Assessing the Role of Family Health History
Family history reflects an individual’s genes and the
behaviors and environmental factors they share with their family members.
Family history is a risk factor for many chronic diseases, such as cancer,
coronary heart disease, and diabetes, making it an important tool for
identifying people at increased risk for these diseases. OPHG research and
projects include
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A study using the Family Healthware™ tool, in which
researchers examined whether personalized prevention messages tailored
to familial risk motivates people to change their behaviors and
lifestyle and seek additional medical advice or screening. The methods
and results of this study will be published in early 2009.
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A national working group on family history, which is
part of the U.S. Department of Health and Human Services’ (HHS)
Personalized Health Care initiative. OPHG is helping to develop a plan
to enable consumers to electronically and securely share their family
health history information with family members and health care
providers, and ultimately, to allow this information to become part of
the consumer’s electronic health record.
Supporting the Evaluation of Genetic Tests
Genetic tests for more than 1,600 diseases have been
developed, and clinical testing for more than 1,300 diseases is currently
available. Most are used for diagnosis of rare genetic disorders, but a
growing number of tests may help with screening for and prevention of
chronic diseases. Based on reports of the HHS Secretary’s Advisory Committee
on Genetics Health and Society, reliable, objective information is needed on
genetic tests to help health care providers, consumers, and policy makers
make decisions on their appropriate use. These reports support OPHG’s
systematic and evidence-based process for evaluating genetic tests. OPHG-supported
activities include
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In 2008, the independent Evaluation of Genomics
Applications in Practice and Prevention (EGAPP) Working Group published
their methods for collecting, analyzing, and grading evidence used to
evaluate the analytic and clinical validity and clinical utility of
genetic and genomic tests.
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In January 2009, the independent EGAPP Working Group released the following three new evidence-based recommendations based on EGAPP-commissioned, CDC-funded evidence reports:
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DNA Testing Strategies Aimed at Reducing
Morbidity and Mortality from Lynch Syndrome.
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Can UGT1A1 Genotyping Reduce Morbidity and
Mortality in Patients with Metastatic Colorectal Cancer Treated
with Irinotecan?
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Can Tumor Gene Expression Profiling Improve
Outcomes in Patients with Breast Cancer?
Translating Genomic Knowledge
Translation of genomic knowledge into health practice
involves a multidisciplinary approach. Understanding the validity,
utility, and use of genomic information and applications will help guide the
development of health interventions that
maximize health benefits and minimize harm to individuals and populations.
OPHG-supported activities include
- State health departments in Michigan, Minnesota, Oregon, and Utah
completed their 5-year genomics cooperative agreements in July 2008. The
states integrated genomics goals and activities into cancer control
plans and helped establish family history assessments as part of disease
prevention efforts for cancer, cardiovascular disease, and diabetes.
Through population-based surveys, the states gained knowledge about
consumer awareness and use of family history in disease prevention and
of direct-to-consumer (DTC) genetic tests. For example, the results of a
2006 Behavioral Risk Factor Surveillance System (BRFSS) survey in
Michigan, Oregon, and Utah published in 2008 showed that 24.4% of Oregon
consumers, 19.7% of Utah consumers, and 7.6% of Michigan consumers were
aware of DTC nutrigenomic tests. Older individuals up to 65 years and
those with more education and higher income were more likely to be aware
of these tests.
- In 2008, OPHG funded five new projects that translate promising
genomic applications, such as genetic tests and family history, into
medical and public health practice. These projects will assess the
impact of these applications on population
health. These projects include
- Family history education to improve genetic risk assessment for
cancer.
- Promotion of best practices for cancer genomics through
surveillance, education, and policy.
- Pharmacogenomics education to bridge the gap between science and
practice.
- Translation of genomics applications into health practice in
Oregon.
- Development and evaluation of a risk-benefit framework for new
genetic tests to educate clinicians, policy makers, and other key
decision makers about the potential benefits and harms of genetic
testing.
- In 2009, the OPHG-sponsored EGAPP Stakeholders Group will help to
translate and disseminate the new EGAPP recommendations for use in
clinical and public health practice. This group also is helping to
increase awareness of the EGAPP initiative and its methods and
processes.
- Genomics centers at the Universities of Michigan and Washington
continue to provide expertise and technical assistance for national and
state efforts to help translate genomic information and applications,
including the EGAPP recommendations, into public health research,
policy, and programs.
- In 2008, OPHG used two national surveys to assess U.S. consumer
awareness and use of direct-to-consumer personal genome scans (HealthStyles)
and knowledge of and experiences with these scans among U.S. physicians
(DocStyles). Preliminary analyses of these data indicate that one in
five consumers surveyed were aware of these tests, but very few had
actually used them. OPHG also worked with three state health departments
to assess U.S. consumer awareness and use of these scans using the 2009
BRFSS.
- Additional projects on cancer genomics have been funded by the
National Cancer Institute (NCI) in 2009.
Future Directions
In 2009, OPHG will continue to strengthen its genomics translation
initiative by establishing a network of government agencies, academic and
research institutions, health care plans, consumer advocacy groups,
biotechnology industries, and other organizations around common goals for
using genomics in preventing disease, improving treatments, and reducing
health disparities. OPHG is also more effectively using public-private
partnerships in evaluating genetic tests. Additionally, OPHG will support
more extensive genotyping, which will expand the human genetic variation
data bank and make these data more accessible to the scientific research
community.
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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: 770-488-8355
E-mail: genetics@cdc.gov • Web:
http://www.cdc.gov/genomics
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Page last reviewed: January 29, 2009
Page last modified: January 29, 2009
Content source: National Center for
Chronic Disease Prevention and Health Promotion
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