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Genomics and Population Health 2005

Letters from the Director


Welcome to the second CDC report on genomics and population health. Since we published our first report, Genomics and Population Health: United States 2003, the field of genomics has grown and so has the challenge of research translation.

During the past year, CDC has carried out the Futures Initiative with the intent of becoming a more efficient and customer-centric organization that achieves greater health impact. CDC created four new coordinating centers, including the Coordinating Center for Health Promotion (CoCHP). Because of the important contribution of genomics to diseases of public health significance, the Office of Genomics and Disease Prevention (OGDP) is now part of CoCHP. This change will allow us to continue to expand our efforts to integrate genomics into public health research and practice across CDC.

In 2004, CDC contracted with the Institute of Medicine (IOM) to conduct a workshop on the implications of genomics for public health. The summary of this workshop, entitled Implications of Genomics for Public Health: Workshop Summary (2005), is now available online. The summary defines public health genomics as “an emerging field that assesses the impact of genes and their interaction with behavior, diet and the environment on the population’s health.”

CDC continues to collaborate with many partners in government, academia, professional organizations, consumer and community groups and the private sector to translate genomic advances for public health use. This report showcases these collaborations and CDC’s continued work to improve population health in three major areas:

  • Conducting public health genomics research.
  • Evaluating genetic tests for practice.
  • Integrating genomics into public health practice.

Conducting Public Health Genomics Research
In this section, Chapter 1 discusses the potential value of human genomics in acute public health investigations (APHIs), which play a major role in public health efforts to control and prevent public health problems in communities. Chapter 2 gives an update on the CDC Family History Public Health Initiative. Chapter 3 focuses on current efforts to integrate genomics research into studies of vaccine safety. Chapter 4 describes the impact of a Direct-to-Consumer (DTC) marketing campaign for genetic testing for breast and ovarian cancer susceptibility.

Evaluating Genetic Tests for Practice
The number of genetic tests available for clinical and public health practice is growing each year. Chapter 5 reviews a model methodology, ACCE, developed by the Foundation for Blood Research to evaluate genetic tests in practice and summarizes results of its application to tests for BRCA1, BRCA2 and CFTR mutations. Chapter 6 describes a new CDC initiative that builds on the ACCE framework to develop and evaluate a sustainable process for Evaluating Genomic Applications in Practice and Prevention (EGAPP™). Chapter 7 discusses recommendations for adding cystic fibrosis to the newborn screening panel in state public health programs. Chapter 8 highlights a national initiative to enhance availability, access and quality of genetic testing for rare diseases.

Integrating Genomics into Public Health Practice
CDC is partnering with several schools of public health and state health departments to demonstrate the integration of genomics into public health practice. Chapter 9 presents an update on activities of three Centers for Genomics and Public Health. Chapter 10 reports on the efforts of four state health departments to integrate genomics into public health programs. The appendices also offer additional Web resources and contact information for state genetic coordinators.

We would like to thank many individuals and programs for their contributions to this report. We hope that it will be useful in advancing the integration of genomics into public health research, policy, and practice. As always, your comments and suggestions are important to us; we invite you to e-mail comments to the Office of Public Health Genomics.

Best wishes in your endeavors as we continue to work together to expand the future horizon of public health genomics!

Muin J. Khoury MD, PhD
Director, Office of Genomics and Disease Prevention, CDC


Public health genomics
An emerging field that assesses the impact of genes and their interaction with behavior, diet and the environment on the population’s health.


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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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