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Public Health Genomics at CDC

Key points

  • CDC's Division of Blood Disorders and Public Health Genomics (DBDPHG) works to promote health, prevent disease, and reduce health inequities for people at increased genetic risk across the lifespan, so they can have the opportunity to be as healthy as possible.
  • This page includes information on some of the key activities DBDPHG has undertaken to integrate genomics into public health activities throughout the agency and to disseminate timely information on genomics health advances.
sequencing and a double helix

Overview

Thousands of inherited genetic disorders affect millions of people in the United States. Many people with genetic disorders are more likely to

  • Have health problems.
  • Require specialized care.
  • Be hospitalized.
  • Have higher healthcare costs.
  • Need to take time off work or school.
  • Die at a younger age.

In addition, many people with genetic disorders face barriers to health equity that are related to social determinants of health. Social determinants of health refer to conditions in the places where people live, learn, work, and play that affect health and quality of life. CDC's Division of Blood Disorders and Public Health Genomics (DBDPHG) works to promote health, prevent disease, and reduce health inequities for people with genetic disorders of all ages, so they can be as healthy as possible.

Activities

Guidelines database

The Tier-Classified Guidelines Database is an online, searchable resource for genomic testing, family health history, and precision health applications classified based on scientific evidence and evidence-based recommendations. Applications are genomic tests performed in a specific clinical scenario.

The database is a compilation of existing recommendations that have been issued by various government and nongovernment entities including the United States Preventive Services Task Force, the Centers for Medicare and Medicaid Services, and medical societies. More than 500 genetic testing guidelines have been reviewed and classified according to a three-tiered framework. Two independent reviewers review each guideline to determine the tier level based on classification criteria:

  • Tier 1 applications are supported by synthesized evidence or evidence-based recommendations for implementation in practice. More than 150 guidelines have been classified as tier 1.
  • Tier 2 applications are not supported by sufficient synthesized evidence or evidence-based recommendations for routine implementation in practice; however, they may inform decision-making on a case-by-case basis.
  • Tier 3 applications are not supported by synthesized evidence for implementation in practice or have evidence-based recommendations against their use; however, they might be candidates for research.

Knowledge database

The Public Health Genomics and Precision Health Knowledge Base (PHGKB) is an online, customizable, user-based system that provides convenient access to the published scientific literature, CDC resources, and other sources that track progress in human and pathogen (infectious agents) genomics, and in other areas of precision public health. The PHGKB includes specialized databases on topics such as cancer, infectious diseases, rare diseases, and health equity.

Genomics seminars

CDC Genomics and Precision Health Seminar Series addresses current issues in genomics and precision public health.

Family health history tool

The My Family Health Portrait (MFHP) tool is a resource for public health programs, health providers, and the general public to aid in collecting and sharing family health history information. MFHP provides family history–based risk assessments for diabetes, colorectal cancer, and heart disease.

DBDPHG collaborated with CDC's Division of Cancer Prevention and Control to develop the MFHP: Cancer app, which is available for Android and iOS. This app collects cancer family health history and includes risk assessments for breast, ovarian, and colorectal cancers.

Genomics public health capacity

CDC funded six projects in 2022 and 2023 to strengthen public health capacity by introducing elements of human genomics into both public health surveillance and applied research. Topics include the following:

  • Assessing the impact of genetics in the control of two infectious diseases: tuberculosis and Ebola virus
  • Enhancing the reporting of gene/genome sequencing in newborn screening programs
  • Examining the role of medications and genetics in the National Birth Defects Prevention Study (NBDPS)
  • Establishing population-based, ethnicity-specific allele frequencies for pharmacogenomic traits of public health importance using the National Health and Nutrition Examination Survey (NHANES)
  • Enhancing the evaluation of genetic risk prediction models for inhibitor development among people with hemophilia in different populations