- Cover
- Acknowledgements
- Table of Contents
- Abbreviations
- Chapter 1
- Chapter 2
- Chapter 3
- Chapter 4
- Chapter 5
- Chapter 6
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About Us
10 years of
Public Health Genomics at CDC
1997-2007
1.0 Public Health Genomics at CDC: 1997-2007
Public Health Genomics
The news media report on advances in genomics research with increasing frequency, contributing to raised expectations that human genomics and related fields will lead to enhanced personalized health care and disease prevention. In contrast, the translation of these advances into interventions to improve health and prevent disease has been slow, resulting in relatively few genomics discoveries that have led to evidence-based applications for health practice. Public health research, including population studies in epidemiology, policy and communication sciences, and health services research, is needed to translate promising genomic discoveries into individual and public health interventions.
Public health genomics is a multidisciplinary field concerned with 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.
Through the Office of Public Health Genomics (OPHG), CDC provides national and international leadership in public health genomics, while building partnerships with other federal agencies, public health organizations, professional groups, and the private sector.
History of Public Health Genomics at CDC
In 1997, CDC established the Office of Genetics and Disease Prevention following the recommendations of an agency-wide, ad hoc Task Force on Genetics and Disease Prevention. The Task Force was appointed by then-CDC director Dr. David Satcher, to propose a strategic plan through which the agency might coordinate and strengthen its activities in genetics and public health. Since its formation, the Office of Genetics and Disease Prevention has been renamed twice—first in 2003, the year marking the completion of the Human Genome Project, as the Office of Genomics and Disease Prevention, and then again in 2006, as the Office of Public Health Genomics (OPHG), in recognition of its national scope and public health focus. The office has had several locations within CDC’s organizational structure, moving from the National Center for Environmental Health (NCEH) to the CDC Office of the Director (OD) before arriving at its current home, the National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP) in the Coordinating Center for Health Promotion (CoCHP).
OPHG Vision, Mission, and Goals
The vision, mission, and goals of OPHG have evolved over time in response to ongoing input from internal and external CDC partners, lessons learned from OPHG projects, priorities of CDC agency-wide initiatives including the Goals process and the Futures Initiative, and the changing identity and location of the office within the CDC organizational structure. The central tenet upon which the vision, mission, and goals are based is the role of public health in translating human genome discoveries into population health benefits.
Although fundamental to many CDC programs, legislation has not been the primary influence in directing specific OPHG activities. Instead, priorities are continually shaped by OPHG leadership, input from internal and external CDC partners, the roles of other government agencies and the private sector, availability of funding, and the state of the science. OPHG’s research and program portfolios are dedicated to closing the gap between genome discoveries and public health impact.
OPHG vision: to use genomic knowledge to improve the lives and health of all people.
OPHG mission: to integrate genomics into public health research, policy, and programs.
OPHG goals: to improve public health interventions through population-based genomic research, assessment of the role of family history in determining risk and for disease prevention, and the evaluation of genetic tests.
OPHG Major Projects 1997-2007
The major OPHG projects are briefly summarized below, with their location along the continuum from gene discovery to public health impact illustrated in the figure on the following page. More detail on each initiative is provided in Section 2.0.
Measuring population variation in selected genes of public health significance
In February 2002, OPHG formed a multidisciplinary working group with members from across CDC to develop a proposal to measure the prevalence of selected genetic variants of public health significance in a representative sample of the U.S. population. OPHG is coordinating a CDC/NCI collaboration to determine the prevalence of 90 genetic variants in the Third National Health and Nutrition Examination Survey (NHANES III) sample, and to conduct additional analyses to examine the associations between the selected genetic variants and disease outcomes available in NHANES III data.
Integrating genomics into public health investigations and surveys
In 2004, OPHG and the Council of State and Territorial Epidemiologists (CSTE) held a workshop to discuss incorporating human genetics into public health investigations.
In 2006, OPHG provided seed funding for 11 innovative CDC projects that integrate genomics into public heath research and programs, including projects focused on infectious disease, chronic disease, birth defects, pharmacogenomics, and environmental exposures. Nine of these projects were funded in 2007 for a second year, with completion anticipated in April 2008.
In 2006, OPHG and the National Center for Influenza and Respiratory Diseases (NCIRD) developed a pilot CDC Influenza Public Health Genomics Initiative to investigate the role of population genetic variation in the epidemiology of influenza morbidity and mortality and the effectiveness of public health interventions.

Developing a knowledge base on genomics and population health
In 1998, OPHG established the Human Genome Epidemiology Network
(HuGENet™), a global collaboration for assessing the role of human genome variation in population health. HuGENet™ promotes the publication of systematic reviews of population-based data on gene-disease associations and gene-environment interactions. A multi-authored book, Human Genome Epidemiology, was published in 2004 and a second edition is currently under development. In 2006, HuGENet™ published the first edition of an online handbook for systematic reviews, which are peer reviewed and published in partnership with ten scientific journals.
Developing methods for evaluating genetic tests in transition from research to practice
In 2004, CDC launched the Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) project, a national collaborative initiative to develop a coordinated process to synthesize available data on the validity and utility of specific genetic tests and identify gaps in knowledge as well as the studies needed to resolve them. Three evidence reports commissioned by the OPHG-supported, independent, non-federal, multidisciplinary EGAPP™ Working Group, have been released by AHRQ Evidence-based Practice Centers in the past nine months, and more evidence reports are in progress. The EGAPP™ Working Group released its first recommendation statement in December 2007.
Developing and evaluating family history tools for disease prevention and health promotion
CDC is collaborating with federal agencies, academia, and state health departments on the Family History Public Health Initiative to evaluate how family history information can be used effectively to assess risk for common diseases and influence early detection and prevention strategies. In 2005, CDC completed the development of a web-based tool, Family HealthwareTM, which collects information about health behaviors, screening tests, and personal family histories for six diseases. CDC funded three research centers to conduct a clinical trial to evaluate the clinical utility of this tool.
Establishing regional hubs of expertise in genomics and public health in the United States
OPHG funds Centers for Genomics and Public Health at schools of public health at the University of Michigan and the University of Washington. These centers provide expertise in genomics and public health with a focus on translating genomic information into useable public health knowledge, providing technical assistance to state and community public health agencies, and integrating genomics into programs and practice.
Integrating genomics into chronic disease prevention programs in state health departments
OPHG funds genomics programs in four state health departments, Michigan, Minnesota, Oregon, and Utah, to integrate genomics knowledge, tools (e.g., family history assessments), and surveillance findings into the strategies and activities of chronic disease prevention programs.
OPHG funds genomics programs in four state health departments, Michigan, Minnesota, Oregon, and Utah, to integrate genomics knowledge, tools (e.g., family history assessments), and surveillance findings into the strategies and activities of chronic disease prevention programs.
Partnerships
Through its various initiatives, OPHG has developed a large array of partnerships with other federal agencies, particularly NHGRI, NCI, and institutes of NIH, state public health organizations, academia, health care organizations, patient advocacy groups, and the private sector. In addition, OPHG has spearheaded global collaborations in human genome epidemiology, genetic testing, and public health genomics by engaging with researchers and policy makers worldwide. (See HuGENetTM and EGAPP™ in section 2.0) OPHG has helped lead the development of an international public health genomics network called Genome-based Research Population Health International Network (GRAPHInt).
In 2006, OPHG facilitated the establishment of the CDC Public Health Genomics Collaboration (PHGC) in response to the high level of interest in genomics at CDC. The PHGC is a network of CDC professionals working in or interested in public health genomics. The goals are to provide a forum for the ongoing exchange of ideas, research, and information; to determine points of synergy for improving health by using genomics; and to integrate public health genomics into research, policy, and programs across CDC. The PHGC coordinates stimulating and informative meetings throughout the year, highlighting relevant topics in public health genomics and facilitating discussions of cutting edge research, methodology, and technology. To date, hundreds of CDC employees across every Center, Institute or Office (CIO) have participated in PHGC activities.
Communications
OPHG’s communication strategy targets a broad range CDC audiences and external audiences, including health care providers, public health practitioners, genetic and genomic researchers and practitioners, health care payers/purchasers, policy makers, and the general public. The communication strategy aims to encourage the integration of genomics into research, policy, and practice by developing and disseminating credible resources in public health genomics. Principal activities and products include: the OPHG Web site which has more than 2,000 main pages of genomics information and resources and approximately 4,000 pages of presentations and interactive materials; a weekly online publication called Genomics & Health Weekly Update, which reaches more than 4,000 subscribers worldwide; OPHG conferences, meetings, workshops, and seminars; media interviews; presentations and exhibit booths at public health events; publications; campaigns; and a public inquiry mailbox.
OPHG’s Web site is at the top of search results in Google, Altavista, AOL, DHHS, and other search engines for the terms public health genomics or genomics and disease prevention. The Web site receives more than 100,000 visits per year.
Increased interest in genetics and genomics by the news media has led to OPHG interviews with numerous newspapers, magazines, and other publications that are widely disseminated to various audiences nationally and internationally. Since January 2007, OPHG has interviewed with the Wall Street Journal, Atlanta Journal Constitution, Sun Sentinel, AAPA News, Men’s Health, and other publications on topics such as genetic testing, family history, and personalized medicine.
OPHG has organized approximately 100 conferences, workshops, meetings, and seminars, involving partners from across CDC and collaborators for OPHG initiatives. OPHG participates and exhibits at annual health promotion events, such as the American Public Health Association conference and the DHHS/CDC Disease Prevention and Health Promotion conferences. In January 2008, OPHG will host a meeting to celebrate its 10th anniversary of public health genomics at CDC, inviting experts to present on genomics and population research, human genome epidemiology, genetic testing, family history, and public health practice.
OPHG Organizational Structure and Personnel
The director and deputy director provide strategic leadership for OPHG with support and input from the associate director for epidemiology, and the associate director for science, and the other senior staff. Day-to-day operations are supported by management and operations staff.
OPHG has dedicated teams to support the major initiatives and the communications functions. These teams include: the Knowledge Integration Team; the Population Health Research Team; the EGAPP™ Team; the Prevention and Translation Research Team; and the Communications Team. Each team has a designated lead staff member and support staff. The organizational structure is depicted in the figure and includes personnel who possess a wide array of professional disciplines and skills.
Currently, OPHG supports a total of 45 staff, which includes 18 federal full-time employees. Since 1997, OPHG staff has grown considerably but the office remains a relatively small cross-cutting entity in terms of absolute personnel resources.
Office of Public Health Genomics

Office of Public Health Genomics Major Initiatives, Projects, and Events At A Glance
1997:
- CDC published a Strategic Plan on Genetics and Public Health
- CDC established the Office of Genetics and Disease Prevention
- 1st National Conference on Genetics and Public Health was held in Atlanta
- HuGENetTM was established
- 1st extramural grants: prevention research
- 1st Centers for Genomics and Public Health were established
- ACCE Project was initiated
- Genomic Competencies for the Public Health Workforce developed
- NHANES III Collaborative Genomics Project was started
- Family History Public Health Initiative launched
- ACCE framework was published
- Four state health departments were funded to build genomics capacity
- EGAPP™ project was initiated
- OPHG and CSTE organized a workshop on the role of genomics in public health investigations
- International Biobank and Cohort Studies meeting
- OGDP renamed Office of Public Health Genomics
- CDC Public Health Genomics Collaboration (PHGC) was established
- OPHG provided intramural seed funding for eleven CDC projects
- OPHG and NCIRD established the CDC Influenza Public Health Genomics Initiative
- OPHG hosted 2nd CDC PHGC meeting
- OPHG provided intramural seed funding for nine CDC projects
- OPHG will celebrate its 10th year anniversary
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- Additional information for Public Health Genomics is available on our contact page.


