Public Health Genomics
About Us
Public Health Genomics 2012 At a Glance: Realizing Opportunities for Genomics to Improve Health
What is Public Health Genomics?
Public health genomics is a relatively new field that focuses on the effective and responsible translation of genomic research into population health benefits.Since 1997, CDC’s Office of Public Health Genomics (OPHG) has served CDC programs, other federal agencies, state health departments, and other external partners by identifying, evaluating, and implementing evidence-based genomics practices to prevent and control the country’s leading chronic, infectious, environmental, and occupational diseases.
To integrate genomics knowledge and applications responsibly and effectively into health care and disease prevention, OPHG is:
- Promoting the appropriate use of evidence-based genomic tests,
- Evaluating genomic tests to identify opportunities to improve health,
- Building the evidence base for genomics in public health, and
- Providing communication and training about public health genomics.
Promoting the Appropriate Use of Evidence-based Genomic Tests
Evidence-based recommendations are currently available for several genomic tests that can save lives now if implemented effectively, and more will emerge in the next decade.State public health genomics programs
OPHG supports a policy, education, and surveillance framework for public health genomics through cooperative agreements with the Michigan and Oregon state health departments.The Michigan Department of Community Health with health plan partners used multiple methods, including surveillance, education, federal and state policies, and partnerships, to increase insurance coverage for genetic counseling and evaluation for BRCA-associated hereditary breast and ovarian cancer to more than 7 million Michigan residents
in accordance with U.S. Preventive Services Task Force recommendations. The Michigan cancer registry has also initiated bidirectional data reporting to support more personalized education efforts for health providers.The Oregon Public Health Division analyzed findings from the Behavioral Risk Factor Surveillance System. They found that awareness of family history of chronic diseases, such as diabetes, cardiovascular disease, colorectal cancer, and breast cancer, prompts clinicians to recommend screening, and might motivate patients to be screened and to adopt healthy lifestyles
. In 2011, CDC’s Division of Cancer Prevention and Control funded three state programs for implementing the USPSTF BRCA recommendation based on the OPHG model for state public health genomics programs.
Evaluating Genomic Tests to Identify Opportunities to Improve Health
Genomic tests are available for more than 2,300 diseases. Most are used to diagnose rare, single-gene disorders, such as fragile X syndrome and Duchenne muscular dystrophy. Other genetic tests can identify rare genetic variants associated with hereditary forms of common chronic diseases, such as breast and ovarian cancers, coronary heart disease, and diabetes.Evaluation of Genomic Testing Practices.
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group established by OPHG examines the validity and utility of specific genetic tests for informing health practice. So far, they have released six evidence-based recommendations, including one published in 2011 that addresses genetic testing for hereditary thrombophilia.The Genomic Applications in Practice and Prevention Knowledge Base
is an on-line database, developed in 2009 to facilitate the identification of emerging genomic tests with the potential to impact public health, which currently includes over 400 genomic tests. PLoS Currents: Evidence on Genomic Tests
is a novel online publication that provides summaries of available data on the validity and utility of tests while highlighting important gaps in knowledge. Currently, evidence summaries have been published for 23 different genomic tests.
Building the Evidence Base for Genomics in Public Health
OPHG promotes the appropriate integration of genomics into national and state surveillance systems and epidemiologic studies, where these methods can help identify disease determinants and suggest interventions.Population-Based Studies
Since 2008, OPHG and the National Center for Influenza and Respiratory Diseases have supported studies of human genetic factors in fatal influenza infection in young people. A pilot study published in December 2011 found that certain genotypes were associated with increased risk for MRSA coinfection. OPHG funded the Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network to conduct a genetic epidemiology study of life-threatening and fatal influenza in children and young adults. In 2009, this study enrolled more than 160 persons, with approximately 40% presumed to have H1N1 flu.In 2011, OPHG and collaborators from CDC and other organizations published population-based studies using data from the National Health and Nutrition Examination Survey. These studies examined sodium and potassium intake and mortality
; the influence of familial risk on diabetes risk-reducing behaviors among unaffected adults; and racial/ethnic differences in the association of genetic variants with blood lipids.New Resource for Researchers
OPHG and the Human Genome Epidemiology Network (HuGENet) sponsored a workshop that developed recommendations for strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS). The GRIPS Statement and Explanation and Elaboration papers were published simultaneously in ten journals in 2011.Family Health History Applied Research
Family health history reflects inherited, behavioral, and environmental risk factors for disease that are shared among family members. Family history is an important tool for identifying people at increased risk for many common diseases, including cancer, coronary heart disease, and diabetes.As of April 2012, results from the CDC-sponsored Family Healthware™ Impact Trial have been reported in eight publications, including a 2011 publication
finding that education about family health history can be effective in increasing certain healthful behaviors (diet and physical activity). Providing communication and training about public health genomics
OPHG’s Genomics and Health Impact Update is published weekly, providing timely information about genomic tests, family history, and relevant policy and legislation, science, and practice to over 44,000 subscribers. In 2011, OPHG launched a new Genomics and Health Impact blog; topics addressed so far include family health history, direct-to-consumer personal genomic tests, preparedness, and smoking. OPHG has reached thousands of health care practitioners with evidence-based genomics messages through the CDC Expert Commentary Series on Medscape, including three new podcasts in 2011.The April 2012 special issue of the journal Public Health Genomics
includes 13 articles based on presentations at the 4th National Conference on Genomics and Public Health in the United States: “Using Genetic Information to Improve Health Now and In the Future.” The Conference was held in December 2010, sponsored by CDC, NIH, and other cosponsors.OPHG has reached out to stakeholders to identify near-term opportunities for public health genomics. The University of Michigan Center for Public Health and Community Genomics and Genetic Alliance published the Priorities for Public Health Genomics 2012-2017 Stakeholder Consultation and Conference Report
[PDF 5.35 MB] in November 2011.
Future Directions
In 2012, OPHG will continue national efforts to translate evidence-based genomics applications—such as genetic tests, technologies, and family history—into better, more targeted interventions for preventing disease, improving treatments, and reducing health disparities. To achieve these objectives, OPHG is- Providing ongoing consultation to state health departments, CDC programs, and other stakeholders to share successful approaches to promote the appropriate use of genomic tests; OPHG will convene a stakeholder meeting in September 2012 on New Strategies in Public Health Genomics: Actions to Save Lives Now.
- Supporting the EGAPP Working Group in the development of an evidence framework for introducing whole genome sequencing into practice and assessing the role of genomics and family history in recommendations for colorectal cancer screening.
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