Statement by
Muin Khoury, M.D., Ph.D.
Director, Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Department of Health and Human Services
Genomics Research in the 21st Century: From the Test Tube to Population Health
before the
Subcommittee on HealthCommittee on Energy and Commerce United States House of Representatives

May 22, 2003

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
  2. 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.

  3. Assessing the public health impact of genetic tests for screening and prevention
  4. 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.

  5. Assessing family history as a tool for disease prevention and public health
  6. 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.


  1. Gwinn ML, Khoury MJ. Research priorities for public health in the post genomics era. Genet Med 2002;4:410-411.

  2. CDC Office of Genomics and Disease Prevention

  3. Genomics and the Future of Public Health Symposium, CDC, May 5, 2003

  4. Steinberg KK et al. DNA banking in epidemiologic studies, CDC (1997)

  5. Hereditary Hemochromatosis: a public health perspective. CDC (2001)

  6. Family history for preventive medicine and public health, CDC (2003)

  7. Institute of Medicine. Who will keep the public healthy? Educating public health professionals for the 21st century (2002)

  8. Genomics competencies for the public health workforce, CDC (2001)

  9. Centers for Genomics and Public Health, CDC (2001)

  10. Training and education: CDC Office of Genomics and Disease Prevention

Last Revised: May 27, 2003