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CDC Genomics and Disease Prevention 2002 Highlights

"There are exciting things going on right now in public health. Certainly, genomics is going to have a profound impact on the public health practice of the future. Through genomics, we can understand the genetic basis for health problems, and how the environment, microbes and lifestyle issues interact with health outcomes, in a much more robust, real-time way than we ever imagined would be possible a decade ago."

CDC Foundation interview with Dr Julie Gerberding
CDC Director (2002)



News from the Human Genome Project continues to captivate scientists and the public, raising expectations that health benefits will follow quickly. However, much work remains to translate research results into new opportunities for disease prevention, detection, and treatment. During 2002, CDC's Office of Public Health Genomics (OPHG), at the National Center for Environmental Health (NCEH), initiated or participated in activities focused on integrating genomics into public heath research and practice.

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Public Health Research

The family history public health initiative: evaluating the use of family history as a tool for common disease prevention

OPHG, in collaboration with several CDC programs and the National Institutes of Health (NIH) embarked on a public health initiative to evaluate the use of family history information to assess risk for common diseases and influence early detection and prevention strategies. We have known for years that people who have close relatives with certain diseases such as heart disease, diabetes, and cancers, are more likely to develop those diseases themselves. However, work in public health and our personal experiences with the healthcare system clearly show that family history is underutilized in the practice of preventive medicine.  

Image of tools to organize family history data

In early 2002, OPHG began the family history initiative with a review of the literature and a paper that introduced the concept of using family history for disease prevention, and described an evaluation framework for determining the effectiveness of the approach. The paper, "Can Family History be Used as a Tool for Public Health and Preventive Medicine?" was published in August 2002 in Genetics in Medicine. In May 2002, OPHG convened a panel of experts to discuss the concept of a family history tool for disease prevention. Several presentations reviewed existing knowledge about family history as a risk  factor for selected diseases and its usefulness for motivating people to change their behavior. The workshop discussions are summarized on the CDC genomics Web site, Family History as a Tool for Public Health and Preventive Medicine. In addition, 12 articles based on workshop presentations were published in the February 2003 issue of the American Journal of Preventive Medicine.

A family history working group was formed to develop a family history tool for disease prevention. Members of this multidisciplinary working group represent epidemiology, genetics, behavioral sciences, health education, economics, ethics, communication sciences, and other fields. The group established inclusion criteria for a family history tool, reviewed the literature for nearly 40 diseases, and narrowed the list to 16 diseases for the initial tool. Ongoing work includes pilot studies to refine the tool; development of an algorithm to interpret the data collected in the tool; development of a resource manual for primary-care physicians who use the tool; and design and funding of studies to evaluate the analytic validity, clinical validity, clinical utility, and ethical, legal, and social implications of collecting and using family history information.

Recommendations for evaluating and synthesizing human genome epidemiology data
image of dna, and experts taking notes at a meeting

The completion of the first draft of the human genome sequence and advances in technologies for genomic analysis are generating tremendous opportunities for epidemiologic studies to evaluate the role of genetic variants in the etiology of human disease. The number of published studies on human genome epidemiology (HuGE) has increased rapidly. For example in 2001, just over 2000 articles of this type were published, but in 2002, nearly 3000 were published. Therefore, integration of evidence will become increasingly important for dealing with potentially unmanageable amounts of information.  Systematic reviews of prevalence of genetic variants in different populations, gene-disease associations, gene-environment interaction, and quantitative data on genetic tests and services uncovered the need for unified guidelines that could be used in integrating evidence. To address the lack of recommendations that cover the spectrum of HuGE studies, CDC and NIH convened a meeting of an expert panel. The expert panel made a number of recommendations for evaluation and synthesis of data on (1) prevalence of gene variants and gene-disease associations and (2) genetic tests.

Additional information is available on  Reporting, Appraising, and Integrating Data On Genotype Prevalence and Gene-Disease Associations.

Standard approach being developed to evaluate genetic tests.

Despite the continued proliferation of genetic tests, only a few have been evaluated for clinical validity and utility. In a cooperative agreement with the Foundation for Blood Research (FBR),CDC is establishing a standard approach for evaluating data on genetic tests. ACCE, named for the four components of evaluation--analytic validity; clinical validity; clinical utility; and ethical, legal, and social implications--is a model process for evaluating data on emerging genetic tests.

The process includes collecting, evaluating, interpreting, and reporting data about DNA and related testing for disorders with a genetic component, then formatting the data to allow policy makers to access up-to-date and reliable information for decision making. An important part of this process is identification of gaps in knowledge about the validity of genetic tests. FBR has completed a review of genetics tests for cystic fibrosis and is working on hereditary hemochromatosis, factor V Leiden, and breast cancer. Testing for colorectal cancer will be done in 2003, the final year of the cooperative agreement. The long-term goal of this project is to develop a process that can be used by other researchers to critically review genetic tests.

Additional information is available on Genetic Test Evaluation: Information Needs of Clinicians, Policy-Makers and the Public

Newborn dried blood spot meeting to develop a strategic plan to assess the feasibility, utility, and practical implementation of establishing a national/multistate bank of leftover newborn dried blood spots

Dried blood spot (DBS) specimens are a unique, valuable population-based source for important public health surveillance and potential epidemiologic research, including population-based data on the prevalence of genetic variants associated with chronic disease, markers of environmental exposure and infectious disease, and constitute a specimen bank of a large cohort of state populations. The potential public health value of leftover newborn DBSs has been increasingly recognized.  

image of babies, blood spot cards, and genetic representations

Newborn screening (NBS) programs collect DBSs in every state for the approximately 4 million children born each year. Leftover DBSs are available after routine metabolic, endocrine, hematologic, and other screening tests so retesting can be performed. Over 95% of newborns have leftover DBS retained by state programs. The degree to which states have developed policies and used state-based spot banks for public health applications varies; examples include investigations into the etiologies of birth defects and autism; susceptibility to infectious diseases; and environmental triggers of autoimmune endocrinopathies such as type I diabetes.

The goal of the September 2002 DBS meeting was to bring states together to discuss their experiences and develop a strategic plan in collaboration with state health departments and other partners; to examine the feasibility of establishing a multistate bank of leftover newborn DBS specimens; and to assess the logistical structure for storage, retrieval, and controlled access to a multistate spot banks or a central spot bank. Issues discussed include storage conditions, quality assurance, cataloging and retrieval systems, data elements, databases, security, confidentiality, and ethical and legal issues.  More information on the meeting can be found at

Advances in human genetics, gene discovery, and the Human Genome Project will play a central role in medicine and public health in the 21st century. Assessing the impact of genetic variation on the health of populations will be critical to guide public health research, policy, and practice in using genetic information to prevent disease. The banks would provide a unique resource for obtaining population-based data on prevalence of gene variants of public health significance and the association of gene variants with disease and risk factors, including measuring markers of environmental exposure, infectious disease, or risk factors associated with developmental disabilities and chronic disease.

The goal of using newborn DBSs is to find markers to identify susceptible populations so that diseases can be prevented, particularly in children. To inform all states, an overview of the meeting was presented at the NBS symposium in Phoenix, Arizona, in November 2002. Further efforts will include pilot studies to implement and use this valuable resource for public health research.

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Public Health Practice

image of a training meeting in progress

Human Genome Epidemiology Workshop at Robinson College, Cambridge, UK.  
In July 2002, the Public Health Genetics Unit, Cambridge, UK, and OPHG co sponsored a workshop entitled  "Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease." The purpose of the workshop was to introduce the concepts of HuGE, which translates gene discoveries to disease prevention by integrating population-based data on gene-disease relationships with the development of interventions. Course participants acquired the conceptual and practical tools for critically evaluating the growing scientific literature in this area. Lectures provided students with an overview of HuGE including the impact of the Human Genome Project on epidemiologic research; measuring gene-disease associations and gene-environment interactions; integrating the evidence from population-based studies into prevention activities; and translating genetic advances into improved health outcomes. Using case studies, students practiced describing the population distribution of gene variants; summarizing gene-disease associations in terms of environment and gene-gene interactions; and characterizing biochemical and DNA tests in terms of analytic validity, clinical validity, and clinical utility.

A two-day workshop: "The role of human genetics in infectious diseases and public health."
The National Center for Infectious Diseases Science Education Committee and OPHG presented a symposium on the effect of the interplay between host genetics and infectious diseases on public health. This course was designed as a primer for investigators who want to perform this type of study but would not necessarily know the required resources or ways to initiate the work. The workshop participants heard a series of talks in three sessions: epidemiology and study design, technology and laboratory approaches, and practical aspects of CDC studies.

State Capacity Building

Course of Action for Integrating Genomics In Disease-Specific Programs
The Human Genome Project and other recent genetics advances present unique opportunities for public health. We now know that certain identifiable gene mutations increase risk for cancer, cardiovascular disease, diabetes, and other chronic diseases. State health departments are challenged with finding optimal ways of integrating these genetic discoveries into broad disease prevention and management strategies.

The Association of State and Territorial Chronic Disease Program Directors (CDD) continues to be a leader in this arena. In September 2000, CDD hosted a retreat for its members to recommend actions for both state and federal agencies. One recommendation called for "CDD and CDC, in collaboration with others, [to] develop and disseminate a white paper regarding the importance of genetics in public health and chronic disease." Thus, the CDD's Genetics Planning Group, in collaboration with CDC's National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP) and OPHG, convened the Genomics and Chronic Disease Summit in Atlanta during January 31-February 1, 2002.

The Summit's primary purpose was to engage genetics and public health experts in an exchange of information about the state of genomic science in relation to five chronic diseases-asthma, cancer, cardiovascular disease, diabetes, and obesity-and the implications for public health during the next 3-5 years. Participants included invited representatives of the CDD, NCCDPHP, NCEH, Council of State and Territorial Epidemiologists, Association of Public Health Laboratories, Coalition of State Genetics Coordinators, and the newly established Centers for Genomics and Public Health.

In addition to identifying immediate priorities, the participants developed 20 major recommendations for furthering the integration of genomics into public health.

Genomics Toolkit Project  
The application of genetics and genomics has greatly increased understanding of health and disease, and this knowledge is becoming increasingly useful for public health practice. Building capacity in genomics in state public health agencies is needed so that public health activities can integrate these new insights into current policies and programs to improve health outcomes. The Genomics Toolkit is the product of a working group coordinated and convened by the Association of State and Territorial Health Officials (ASTHO). The working group members include representatives from CDC and other public health organizations with interests in laboratory science, chronic disease, public policy, genetics, maternal and child health, local public health, and epidemiology. The goal of the project is to collect or develop tools that successfully apply genetic and genomic knowledge to public health activities.

image of a toolbox with various items related to genomics and public health

The Genomics Toolkit project began in 2001 and made considerable progress in 2002 to assess tools that states use to increase genomics capacity, identify areas that might benefit from genomic knowledge, collect existing materials useful in practice, begin assessing the gaps in these tools, and identify and form partnerships with individuals and public health organizations that are interested in genomics integration. By the end of 2002, the workgroup developing the Genomics Toolkit continued evaluating and selecting tools from the materials that had been gathered, preparing to make them readily available through multiple formats and to encouraging a commitment from our partners to use them.

By mid 2003, the first iteration of the Genomics Toolkit will be completed. The commitment to identifying and developing new tools in response to the public health agencies needs and priorities will continue. The Genomics Toolkit is an evolving document that will be updated as new resources are identified and as genetic science evolves.

Communication and Information Dissemination
image of public health professional reviewing data and computer servers in the background

Genomics and Disease Prevention Information System (GDPInfo)
GDPInfo is a database of all documents available on the OPHG Web site, as well as links to relevant documents on other sites. Users can find information and resources on the use of genetic information to improve health and prevent disease. Public health professionals, including policy makers, researchers, and practitioners, are the target audience for GDPInfo, but the public also may find data and information of interest.Users can obtain a list of relevant documents by querying the database using defined search terms because all GDPInfo documents have been indexed according to gene, disease/outcome, factor and selected topic categories. GDPInfo includes fact sheets, reviews, case studies, published literature, online presentations, book chapters, and proceedings and related-materials from courses and workshops. The database also includes documents that have been created under the auspices of HuGENet™. Of particular note is the HuGE Published Literature database, which contains abstracts from HuGE articles in peer-reviewed journals. These articles are identified through PubMed on a weekly basis (beginning October 14, 2000).

GDPInfo is the first step in creating a fully coordinated information system that will provide data and resources to public health professionals who are integrating genomics into research and prevention services. Future plans for GDPInfo include developing a genotype prevalence database, complemented by an interactive atlas to help users find frequency information.

Addition of Obesity Topic to Public Health Perspective Series

images of obesity, scale, fatty foods, etc.
In January 2002, Obesity and Genetics: A Public Health Perspective was added to the Public Health Perspective Series, a web-based communication tool designed to present complex  scientific information in a clear manner that is meaningful for professionals in public health and related health professions. This publication reviewed the problem of obesity in the population from a genetics perspective, including information about genetic elements involved in the biology of energy regulation and metabolism, what we know and don't know about genetics and obesity, an interpretation of conclusions from existing data, and suggestions for fitting this developing knowledge into current public health strategies.  Other topics under development for the Public Health Perspective series include, "Family History: A Tool for Public Health and Preventive Medicine " and "Genetic Testing for Breast Cancer Susceptibility." Both will be published in 2003. The entire series of Public Health Perspectives can be found on the OPHG Web site.

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  • Additional information for Public Health Genomics is available on our contact page. The U.S. Government's Official Web PortalDepartment of Health and Human Services
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