Office of Public Health Genomics
2006 Program Review Book
Public health genomics is a multidisciplinary field that uses the effective and responsible translation of genome-based knowledge and technologies to improve population health. Public health genomics uses population-based data on genetic variation and gene-environment interactions to develop evidence-based tools for improving health and preventing disease. Since 1998, the Office of Genomics and Disease Prevention has been at the leading edge of this development in the United States and internationally. In 2006, CDC changed the name of the office to the “Office of Public Health Genomics (OPHG)” to better reflect the focus on public health. OPHG provides national public health leadership while building partnerships with other federal agencies, public health organizations, professional groups, and the private sector.
Genomics has the potential to provide insights into why some people get sick from certain infectious agents, environmental exposures, and behaviors, while others do not. Better understanding of the gene-environment interactions that contribute to health and disease will help to identify more effective ways to prevent and treat diseases.
Most human diseases—especially common diseases, like cancer and diabetes—result from interactions of genetic factors with modifiable environmental and behavioral factors. Very few diseases can be attributed to single genes. Calling a disease genetic implies that no environmental or behavioral interventions exist, and that biology is destiny. Conversely, calling a disease environmental ignores the influence of genetic variation on disease susceptibility, progression, and response to treatment.
Both nature and nurture are important. The way genes interact with each other and with environmental factors to cause disease, however, is largely unknown. Clinical and epidemiologic studies are needed to identify and better characterize genetic and environmental factors and their interactions. This new knowledge will lead to more effective ways to prevent disease and improve health.
Although public health has used genomics in newborn screening programs since the 1960’s, future genomic applications will require broader program models. While the accelerating rate of genomic discoveries is exciting, immense gaps currently exist in the knowledge needed for successful translation of these discoveries into population health benefits. This translation gap calls for public health leadership in shaping the agenda for applied research, policy development, and practice.
Anticipating the potential of genomic research for improving population health, CDC developed a strategic plan and formed the Office of Genetics and Disease Prevention in 1997. The office was renamed the Office of Genomics and Disease Prevention (OGDP) in 2003, and this year, as mentioned, the name was changed to the Office of Public Health Genomics (OPHG).
- To use genomic knowledge to improve the lives and health of all people.
- To integrate genomics into public health research, policy, and programs.
- Integrate Genomics into Public Health Research
CDC is recognized around the world for conducting public health investigations of health problems and emergencies and, by doing so, improving people’s daily lives. Collecting and analyzing human genomic data in public health investigations has the potential to enhance the ability to understand variation in disease outcomes, characterize environmental exposures more accurately, and refine public health interventions such as vaccination, chemoprophylaxis, exposure reduction, and health promotion.
- Assess the Role of Family History in Risk Assessment and Disease Prevention
Family history is known to be a risk factor for many chronic diseases including coronary heart disease, stroke, cancer, and diabetes. These common diseases result from the interactions of multiple genes with multiple environmental factors in complex patterns that, despite progress in sequencing the human genome, are not yet well understood. In the meantime, a person’s family health history can be used as a low-cost, low-tech “genomic tool” to capture the interactions of genetic, environmental, and behavioral factors in determining that person’s disease risk. A family history assessment is also the first step toward identifying families with increased risk who may benefit from genetic testing as well as appropriate health education and behavior modification strategies.
- Evaluate the Use of Genetic Tests for Population Health
More than 1,000 genetic tests are currently available for clinical testing. Most are used for diagnosis of rare single-gene disorders and a few for newborn screening. A growing number of genetic tests may have population-based applications, such as determining the risk of developing a disease or condition in the future (e.g., predictive testing for breast cancer) and identifying genetic variations that can influence response to medicines (pharmacogenomics). These genetic tests have the potential for broad public health impact, and concerns have been raised about the need for pre- and post-market test assessment and surveillance.
Current Priorities Related to Goals
- Using the National Health and Nutrition Examination Survey (NHANES) III, analyze and publish data on the prevalence of the top 100 genetic variants of public health significance, and correlate genetic variation with multiple indices of health status in the U.S.
- Test a CDC family history tool that will be used for prevention of 6 common chronic diseases.
- Evaluate a model process for systematic assessment of genomic applications in translation from research to practice (Evaluation of Genomic Applications in Practice and Prevention—EGAPP™ initiative).