Good morning. I am Muin Khoury, Director of CDC's Office of Genomics and
Disease Prevention. I want to thank you for the opportunity to discuss CDC's
role in integrating advances in genomics into disease prevention and public
health. I will describe CDC's work in translating discoveries in genomics into
improvements in public health that complement NIH's genomics research agenda. In
this genomics era, we need the entire research continuum, from gene discovery to
development of practical tools, for integrating genomics into population-based
disease prevention programs. In this context, the applied public health research
at CDC will evaluate what genes mean for health and disease in real communities
in real time and, as importantly, how genomic information can be used to improve
the public's health. (1)
CDC, the nation's prevention agency, is keen on integrating new genomic
knowledge into public health strategies through training of public health
professionals, education, and information dissemination to the public. CDC
activities encompass a large array of topics such as acute communicable diseases
investigations and developing prevention programs for common diseases like
diabetes and asthma. In anticipation of the impact of genomics on all aspects of
health, in 1997, CDC developed a strategic plan and formed the Office of
Genomics and Disease Prevention (OGDP) to help integrate genomics into public
health research, policy, and practice at the national, state, and local levels.
(2) Over the past 6 years, the Office has provided national planning and
assistance and has developed partnerships with other federal agencies including
NIH, public health organizations, professional groups, and the private sector.
CDC has initiated a number of public health research projects to assess the
impact of genes on the risks of chronic diseases, birth defects, and infectious,
environmental, and occupational diseases to specific populations. On May 5,
2003, CDC held a symposium on Genomics and the Future of Public Health to take
stock of the great accomplishments in genomics, and to look at how we can best
use these accomplishments to maximize their public health benefit. (3)
Applied public health research in genomics is critical to building disease
prevention capacity and programs at the state and local levels. In consultation
with our partners, CDC has developed 3 priority areas for applied public health
research in genomics that will be essential in the next 3-5 years. (1) As I tell
you about each of these priorities, I will also highlight some of the ongoing
collaborations with the NIH in these areas.
1. Assessing how genomic factors influence population health CDC uses
epidemiologic studies to examine the impact of genetic, environmental, and
behavioral interactions on population health. Integrating genomics into the
acute public health response, (for example investigation of infectious disease
outbreaks, toxic exposures, or adverse events following vaccination) is a
critical challenge for public health. Genomics can provide new insights into why
some people but not others get sick from certain infections, environmental
exposures, and behaviors. Knowing who will or how many are more likely than most
to get sick is useful to targeting behavioral or pharmaceutical interventions
and reducing the population burden of various diseases. Understanding the
population prevalence of the thousands of genetic variants in different
population groups and geographic locations and their associations with health
and disease is crucial for planning screening programs and guiding future
research.
A CDC-wide team recently identified more than 50 genes of public health
importance (e.g. genes involved in metabolism of cancer-causing chemicals, and
those involved in nutritional factors like folic acid) and has proposed
measuring population variation of these genes from stored DNA samples collected
during the third National Health and Nutrition Examination Survey (1988-1994), a
national representative sample of the US population. (4) This work is planned in
collaboration with NIH. Understanding the prevalence of genetic variability in
the population for these genes is crucial for public health program planning and
future research.
2. Assessing the public health impact of genetic tests for screening and
prevention CDC is evaluating the use of genetic tests as tools for disease
prevention. Population screening, a traditional public health interest, requires
special attention in this rapidly evolving scientific, social, and legal
context. The recent direct-to-consumer marketing of genetic tests for
breast/ovarian cancer is the first of many commercial efforts to increase
consumer awareness about the potential value of genetic tests in health care or
disease prevention. CDC is exploring collaboration with the industry developing
these tests to determine the current level of utilization as well as knowledge,
attitudes, and behaviors of consumers and health care providers. A
population-based approach in collecting valid clinical and laboratory data will
ensure that consumers, practitioners, and policy makers have access to timely
and current information on genetic tests in the real world and their impact on
the public's health. These efforts will also allow a smoother integration of
validated genetic tests into practice. One example of these efforts is a 1997
expert panel workshop jointly held by NIH and CDC to explore issues around
population screening for iron overload due to hereditary hemochromatosis,
including the cost effectiveness of screening for this condition. (5) This
collaboration led to the identification of important gaps in research about this
condition, some of which are currently being addressed by NIH-funded research.
As new research findings emerge, CDC will continue to translate scientific
knowledge into useful and effective public health strategies, such as its
physician training program that promotes family-based detection of
hemochromatosis.
3. Assessing family history as a tool for disease prevention and public
health Family history of disease can reflect the interactions of multiple genes
with many risk factors such as diet and behaviors. Although family history is
routinely collected in health care encounters, it is inconsistently used to
guide individual health care and disease prevention. In 2002, CDC initiated an
interdisciplinary public health research effort to develop and evaluate family
history as a public health tool for identifying families at increased risk of
common chronic diseases and intervening to prevent disease by effecting positive
changes in health behaviors. (6) A large proportion of the population has family
histories for one or more of the common chronic diseases where people are at
increased risk for these conditions as a result of shared genetic,
environmental, and behavioral factors. A multidisciplinary working group from
CDC, NIH, academia and professional organizations is developing a prototype
family history tool for use in assessing adult risk of several common chronic
diseases (including heart disease, diabetes and colorectal cancer). This tool
will be tested and refined through a series of pilot studies in a variety of
community settings. Ideally, it will be used to reduce the burden of chronic
diseases by providing personalized risk reduction messages.
Concluding Remarks A recent report by the Institute of Medicine identified
genomics as one of the eight cross-cutting priorities for the education of all
public health professionals in the 21st century.(7) In addition to public health
research on genomics, since 1997 CDC has been promoting the integration of
genomics across all public health functions including training and workforce
development. In collaboration with many partners, CDC developed public health
workforce competencies in genomics (8), established 3 Centers for Genomics and
Public Health at schools of public health to develop training and provide
technical assistance to state and local health departments (9), and is actively
engaged in offering training and career development opportunities in genomics
and public health (10). As public health programs become increasingly capable of
using genomic information in preventing common diseases, CDC is committed to
sustaining research that ensures the integration of genomics and family history
into prevention efforts at the state and community levels.
In closing, as we enter the genomics era, CDC realizes the importance of
research that answers practical questions about the utility of new science for
the public's health. A balanced research portfolio in genomics, from the test
tube to public health research in the "real" world, is essential.
Public health research allows the nation to have a "reality check" on
how genetic information is being used in practice and ensures that all segments
of the population will benefit from new genetic knowledge. The translation from
basic research to the more directly applied research by CDC allows us all to
capitalize on the phenomenal achievements of the Human Genome Project to improve
health and prevent disease for citizens of the 21st century.
Thank you for your attention. I will be happy to answer any questions you may
have.
References
1. Gwinn ML, Khoury MJ. Research priorities for public health in the post
genomics era. Genet Med 2002;4:410-411. http://www.cdc.gov/genomics/info/reports/research/priorities.htm
2. CDC Office of Genomics and Disease Prevention http://www.cdc.gov/genomics/
3. Genomics and the Future of Public Health Symposium, CDC, May 5, 2003
http://www.cdc.gov/genomics/events/sympAgenda.htm
4. Steinberg KK et al. DNA banking in epidemiologic studies, CDC (1997)
http://www.cdc.gov/genomics/info/reports/research/dna.htm
5. Hereditary Hemochromatosis: a public health perspective. CDC (2001)
http://www.cdc.gov/genomics/info/perspectives/hemo.htm
6. Family history for preventive medicine and public health, CDC (2003)
http://www.cdc.gov/genomics/activities/famhx.htm
7. Institute of Medicine. Who will keep the public healthy? Educating public
health professionals for the 21st century (2002) http://www.nap.edu/catalog/10542.html
8. Genomics competencies for the public health workforce, CDC (2001) http://www.cdc.gov/genomics/training/competencies/default.html
9. Centers for Genomics and Public Health, CDC (2001) http://www.cdc.gov/genomics/activities/fund2001.htm
10. Training and education: CDC Office of Genomics and Disease Prevention
http://www.cdc.gov/genomics/training.htm
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