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Public Health Genomics Program Review

6.0 Future Directions

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 over the next 10 years:

Phase I: During the next five years, OPHG plans to accelerate 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.

Phase II: During the following five years, OPHG envisions a phased approach for integrating genomic information into public health programs that promotes health and prevents disease. When evidence-based recommendations are developed, OPHG will work with CDC programs to integrate them into guidance and programs 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 fill 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 initiatives. The diagram below shows how these initiatives are designed to begin to close the gap between gene discoveries and population health.

Beyond Gene Discovery (BGD)
Vision for Public Health Genomics at CDC

[A text description of this chart is also available.]

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, 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 (about 7,000 participants in NHANES III from 1991 to 1994 and 8,000
participants in NHANES 1999–2002). The survey over samples 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 interview, laboratory tests, and direct examinations is also available for 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:

  • 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, and 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.
Accelerate Translation Research and Surveillance

OPHG will accelerate its initiatives and activities in the areas of translation research and surveillance to 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 diagram below shows how these translation research and surveillance activities are designed to begin to close the gap between gene discoveries and the population health goals of prevention, early detection, and treatment.

Intramural Seed Funding for Public Health Genomics Research
CDC Public Health Genomics Initiatives 2007-2017

[A text description of this chart is also available.]

To build on the successes of the current seed funding initiatives, 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 initiatives through CDC and its partners. These initiatives 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.

Sustainable EGAPP™ Process

OPHG continues to support the evolution of the EGAPP™ initiative to meet the growing challenges of evidence-based synthesis of knowledge on emerging applications of genomic technology and the dissemination of that information. With guidance from the HHS interagency EGAPP™ Steering Committee (, OPHG will continue to support the independent EGAPP™ Working Group and the newly formed EGAPP™ Stakeholders Group, as well as survey stakeholders to obtain feedback on EGAPP™ products and process, and continue efforts to enhance partnerships and collaborations with similar efforts in the U.S. and globally.

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 sub-clinical 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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