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10 years of Public Health Genomics at CDC

3.0 Vision for the Next 10 Years of Public Health Genomics at CDC

Advances in genomics have led to mounting expectations for the translation of genomic research into applications for health care and disease prevention. A comprehensive agenda for translation research and surveillance is needed to move human genome discoveries into health practice in a way that maximizes health benefits and minimizes harm to individuals and populations. Currently, hundreds of thousands of genetic variants are being evaluated for association with common, chronic diseases. Research is accelerating the use of new biomarkers derived from gene expression, proteomic, and other “omic” technologies. The number of genetic tests used in clinical practice and research is increasing. In addition, family medical history is receiving renewed attention as a genomic and public health tool for disease detection and prevention.

As we look forward to the next decade of public health genomics at CDC, we should consider current challenges, formulate a clear vision for where we want to go, and develop and expand collaborative initiatives that can advance the vision.

Current Challenges in Public Health Genomics

In the past decade, OPHG has established public health genomics as an interdisciplinary field and developed strong collaborations to begin closing the gap between gene discoveries and population health benefits. This endeavor still faces important challenges, including the following:

  1. The “investment gap”: Currently, most of the federal investment in genomics is in basic science, with far less dedicated to translating research findings into population health benefits.
  2. The public health role: Skeptics have argued that except for newborn screening, public health has very little to do with genomics, which belongs squarely in the clinical domain. The emergence of public health genomics worldwide over the past decade has helped demonstrate the value of a population health perspective in weighing the benefits and harms of new technologies. Important roles for public health genomics include: assessing and assuring the delivery of validated genomics technologies and services to all segments of the population; and assessing the value added by genomics to current approaches to disease prevention and health promotion.
  3. Genetic diseases vs. genetic information: The traditional medical genetics model focuses on the management of rare, single-gene disorders. Collectively, these genetic diseases are estimated to account for perhaps 5% of the burden of human disease; however, genetic information is relevant to a wide variety of common chronic diseases, as well as illness due to infectious or environmental exposures. A major challenge for public health is to translate the complexity of information on gene-environment interactions into preventive interventions.
  4. Slow progress in health applications of genomics: In spite of recent excitement about genetic discoveries using genome-wide association studies, the genomics field has not matured to a point where health applications can be based on solid scientific evidence. Between 2001 and 2006, fewer than 3% of all published human genomics research has focused on translation. During the same time period, the U.S. Preventive Services Task Force has developed only two evidence-based guidelines related to genomic applications.
  5. Public health workforce: The past decade has revealed major gaps in the knowledge base and training of the public health workforce in genomics, including those at CDC. Most schools of public health do not have special requirements for genomics training, despite recommendations by the Institute of Medicine for training public health professionals in the 21st century. If we are to succeed in the integration of genomics into public health programs, research and policies, public health professionals at CDC and at the national, state, and local levels need to become more competent in understanding genomic information.
  6. Public health capacity: To be able to evaluate potential applications of genomics for population health, CDC needs to improve its capacity in laboratory genomics, informatics, genetic epidemiology, and health services research.
OPHG Vision for the Next Decade

Our vision for public health genomics at CDC in the next decade is to accelerate the evaluation and appropriate integration of new genomic knowledge into CDC goals and actions. During the past two years, CDC has developed new goals for achieving greater health impact in the U.S. These goals are framed in the context of life stages, places, preparedness, and global health.

Progress toward this vision will be accomplished in two overlapping phases:

Phase I: During the next five years, OPHG plans to accelerate the research and development of new information and tools for use by the public and the health care community. Specific approaches and products will include a human genome profile of the U.S. population, family history tools, genetic test evaluations, and dissemination of translational materials to the public and providers. CDC will fund intramural and extramural research on genomics and population health.

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A text description of this chart is also available.

Phase II: During the following five years, OPHG envisions a phased approach for integrating genomic information into public health programs that promote health and prevent disease. When evidence-based recommendations are developed, OPHG will work to integrate them into activities conducted by CDC and its partners in the public health and clinical communities.

OPHG will spearhead an ongoing assessment of CDC’s public health genomics capacity (laboratory, informatics, training, etc.) With additional resources, we will try to build gaps in infrastructure in order to meet the challenge of public health genomics in the next decade.

Expansion of Collaborative OPHG Initiatives

The next 10 years of public health genomics at CDC will focus on:

  • accelerating the process of translation to close the widening gap between basic research and application,
  • synthesizing and integrating knowledge for better decision making,
  • engaging, educating, and empowering consumers and providers,
  • expanding and leveraging partnerships to enhance the integration of genomics across all areas of health and health care, and
  • expanding international collaborations in public health genomics.

The following section describes proposed OPHG collaborative initiatives for the next 10 years that build on the success and achievements of ongoing projects. The diagram on the next page shows how these initiatives are designed to begin to close the gap between gene discoveries and population health.

  1. Beyond Gene Discovery (BGD)
    With the completion of the Human Genome Project and the emerging availability of genomic technologies to measure human genetic variation, CDC and the CDC Foundation are launching a new initiative, Beyond Gene Discovery (BGD). In collaboration with public, private, and academic partners, the initiative will assess population genetic variation in the U.S. in relation to health and disease and develop strategies for using genetic information to impact health and eliminate disparities among population groups. NHANES provides a unique national resource for investigating the effects of genetic variation on health and will serve as the initial focus of BGD. Genetic samples are available for nationally representative probability samples of approximately 15,000 persons enrolled in two NHANES studies (about 7,000 participants in NHANES III from 1991 to 1994 and 8,000 participants in NHANES from 1999 to 2002). The survey oversamples the two largest race/ethnic minority groups, non-Hispanic blacks and Mexican Americans, along with other subgroups of the population. Information on multiple aspects of health obtained through interviews, laboratory tests, and direct examinations is also available to the NHANES participants. BGD is the first large-scale effort in the U.S. to support comprehensive identification of the associations among variations in genotype, phenotype, and risk factors in a representative sample of the population, laying the groundwork for understanding the relation between human genome variation and health status.
    BGD has the following overarching, three-year goals:
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    A text description of this chart is also available.

    • Produce the first comprehensive report of the “Genome Profile of the United States” population, a summary of the prevalence of common genetic variants in the U.S., including racial and ethnic population groups.
    • Support the development of a searchable, online information system of human genome variation (allele, genotype and haplotype frequencies at individual and multiple genetic loci) that is readily accessible to researchers, health care providers and policy makers. Access to these data will comply with federal requirements that ensure the protection of survey participant confidentiality.
    • Develop and disseminate a comprehensive agenda for population research to fill the gaps between gene discoveries and health benefits of genetic information.The agenda will identify potentially fruitful analyses to be conducted by researchers on genotype-phenotype correlation, gene-gene and gene-environment interaction and various health outcomes.
    • Enhance CDC’s informatics and analytic capacity to develop research datasets that link relevant genetic test results and NHANES interview, examination, and laboratory measurements. Such an enhanced capacity is needed for data management, review, quality control, editing, documentation, production of research datasets, developing access modalities that protect confidentiality, support of proposed research activities, and disclosure review to maintain confidentiality of NHANES participants.
  2. Accelerate Translation Research and Surveillance
    OPHG will continue to develop its portfolio for translation research and surveillance activities that will advance knowledge about the validity, utility, utilization and population health impact of genomic applications and family history for improving health and preventing disease in well defined populations or practice settings. The objective is to address key questions along the translation continuum, from 1) the initial development and evaluation of candidate genomic applications, to 2) thorough evaluation of the genomic applications and development of evidence-based clinical practice guidelines for the use of those applications, to 3) the dissemination and implementation of recommended applications in clinical and public health practice, to 4) the evaluation of the extent and fidelity with which recommended applications are implemented in community settings and the effect of implementation on population health.
  3. Intramural Seed Funding for Public Health Genomics Research
    To build on the successes of the current seed funding projects, OPHG intends to accelerate the process of integrating genomics into public health investigations (e.g., infectious, environmental, occupational, injury, MCH and chronic diseases) by funding additional projects through CDC and its partners. These projects will demonstrate the utility of public health genomics research throughout CDC programs and will help plant the seeds of growth and development across these programs.
  4. Sustainable EGAPP™ Process
    To adapt EGAPP™ to meet the growing challenges of evidence based synthesis and information dissemination, OPHG plans to evolve the EGAPP™ Working Group to enhance partnerships and collaborations with similar efforts around the country and globally. One goal is to make EGAPP™ products more timely yet authoritative by enhancing interactions with other groups and developing and disseminating methods for such synthesis through one or more new EGAPP™ knowledge synthesis centers. Through the translation research and surveillance research cooperative agreement discussed above, we plan to form a network of investigators, EGAPP™Net, to meet regularly to share methods and findings and to identify gaps suggesting additional research and surveillance activities. This network will also interact synergistically with the EGAPP™ Working Group and the EGAPP™ knowledge synthesis centers to advance our knowledge and dissemination of genomic applications for population health.
  5. Genomics for Early Disease Detection and Intervention Initiative (GEDDI)
    OPHG will work with CDC programs and other partners to develop and evaluate genomic applications that use clinical and genomic information, such as familial risk assessment, signs and symptoms recognition, and genetic testing to promote the prevention and early detection of both traditional genetic disorders and common diseases. For many years, integration of genomic applications into clinical practice has been focused on genetic testing for individually rare single gene disorders. More recently, we are seeing the introduction of genomic applications for common chronic diseases – e.g., by using genetic markers in early identification of cancer, or targeting therapies based on genotype that optimize response and avoid adverse drug reactions. We can expect increasingly rapid development of new genetic tests – including those that test multiple genetic markers concurrently using microarray technologies (multiplex testing) – that will be used to help refine diagnoses, improve risk prediction, and target therapies for both traditional genetic disorders as well as common chronic diseases. In the meantime, genomic applications already being used in clinical medicine can be evaluated at the population level for assessing disease risk, influencing early disease detection, and providing guidance for disease prevention or management. These applications – including familial risk assessment, signs and symptoms recognition, and genetic testing – when used as public health strategies, could contribute to improved population health.
    Family history is an important tool for identifying individuals and families with genetic susceptibility to common chronic diseases such as coronary heart disease, stroke, diabetes and most cancers, as well as the rare single gene disorders like cystic fibrosis, sickle cell anemia, hereditary forms of breast and colorectal cancer. As an integral part of primary care and preventive medicine, familial risk assessment has the potential to identify individuals at risk of disease, those with subclinical disease, and those who may already be affected but are undiagnosed. There are many single gene disorders across the life span that could benefit from early disease detection and interventions through a closer partnership between medicine and public health. Many affected persons with genetic diseases such as hereditary hemochromatosis (HH), familial hypercholesterolemia (FH), and primary immune deficiency disorders, for example, are either missed by the health care system or not diagnosed early enough for effective and appropriate interventions to work. Thus valuable opportunities for disease and disability prevention are lost. A public health approach, employing public and provider education about symptom recognition, surveillance strategies, screening, and referral to appropriate services, could be used to enhance existing health care practice leading to earlier diagnosis of these disorders.

    Under the GEDDI initiative, OPHG will take results of translation research and evidence based synthesis and use validated information across public health programs. OPHG will work with CDC collaborators and external partners to identify the genomic applications and diseases that are ready and most appropriate for a public health approach.


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