Public Health Resources

Public Health Genomics




Analyzing Genomes to Improve Disease Control in Poultry   - Marek's disease—a highly contagious viral disease caused by a herpesvirus—is a constant threat to poultry worldwide. To help improve the control of Marek's disease, veterinary medical officer John Dunn and his team at the Agricultural Research Service (ARS) Avian Disease and Oncology Laboratory in East Lansing, Michigan, analyzed Marek's disease genomes to find out which genes are mostly associated with virulence. (Agricultural Research Service (ARS), USDA)




Can Big Data Science Deliver Precision Public Health?   - This blog is a quick is a summary of recent CDC paper in Public Health Genomics. Increasingly, a large volume of health and non-health related data from multiple sources is becoming available that has the potential to drive health related discoveries and implementation. (Centers for Disease Control and Prevention (CDC), HHS)




NLM Retiring GeneEd on March 31, 2019   - GeneEd, a resource of genetics education materials for grades 9 to 12, will be retired on March 31, 2019. Selected content has been integrated into Genetics Home Reference (GHR) to create a single access point at the National Library of Medicine (NLM) for consumer level genetics information. (National Library of Medicine (NLM), NIH)


Public Health Genomics: What’s Next?   - In the 1990’s, the excitement surrounding the Human Genome Project led the public health community to plan for the future role of genomics in health care and disease prevention. The field of public health genomics was launched to identify opportunities for the new science to impact health, inform public health programs and health care providers what works and what does not, and integrate evidence-based genomic applications into programs that can improve health and prevent disease. (Centers for Disease Control and Prevention (CDC), HHS)


Leveraging Existing Birth Defects Surveillance Infrastructure to Build Neonatal Abstinence Syndrome Surveillance Systems — Illinois, New Mexico, and Vermont, 2015–2016   - Estimates of neonatal abstinence syndrome (NAS) incidence during 2015 were 3.0 per 1,000 births for Illinois, 7.5 for New Mexico, and 30.8 for Vermont. Of the four diagnosis codes evaluated, those for infant drug withdrawal (779.5 and P96.1) had the highest positive predictive values for identifying confirmed NAS cases. (Morbidity and Mortality Weekly Report (MMWR))



Newborn Screening: More Than a PKU Screen (November 2018)   - Newborn screening (NBS) began in the 1960s with a screen for Phenylketonuria (PKU), but over the years, NBS has expanded to screen babies for many conditions. Despite this growth, many healthcare professionals still use the term “PKU test”. With more conditions added to newborn screening panels, this term is no longer accurate and is confusing for parents and clinicians. (Baby's First Test Newborn Screening Clearinghouse)





Tracking Progress in Public Health Genomics at CDC: A New CDC-Authored Genomics Publication Database   - The CDC's Office of Public Health Genomics has launched a new CDC-Authored Genomics Publication Database. This new database is housed in the Public Health Genomics Knowledge Base and is a valuable resource for CDC staff, providing CDC's genomics community a portal to access scientific publications in genomics research and a means to track progress on this research at CDC. (Centers for Disease Control and Prevention (CDC), HHS)


Genetic Testing: Ancestry Interest, But Privacy Concerns   - Only a small number of Americans have had their DNA tested to discover their genealogy or detect any disease risks, but a majority say they would be interested in one day taking a genetic test. However, Americans are not entirely convinced about the reliability of genetic testing, and there is some apprehension about the confidentiality of their genetic information. (The Associated Press-NORC Center for Public Affairs Research)


    • + International

bioinformatics @NIAID   - Portal brings together some exciting features including: links to extensive training resources; a section of scripts, code, and programs created by NIAID researchers downloadable from GitHub; and a curated calendar of events with entries focused on bioinformatics and computational biology. (National Institute of Allergy and Infectious Diseases (NIAID), NIH)

Database of Genotypes and Phenotypes (dbGaP)   - dbGaP was developed to archive and distribute the results of studies that have investigated the interaction of genotype and phenotype. Such studies include genome-wide association studies, medical sequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

Global Salmonella Resistome Data   - Tool provides visually informative displays of antibiotic resistance genes in bacteria. It is designed mainly for public health officials, academics and researchers who are using new genomics technologies to track and treat infectious diseases. (U.S. Food & Drug Administration (FDA), HHS)

HuGE Navigator   - HuGE Navigator provides access to a continuously updated knowledge base in human genome epidemiology, including information on population prevalence of genetic variants, gene-disease associations, gene-gene and gene- environment interactions, and evaluation of genetic tests.

Human Genome Resources   - Portal provides access to genome visualization and analysis tools, BLAST, NCBI Genome Remapping Service, and molecular databases. (National Center for Biotechnology Information (NCBI), NLM)

National Newborn Screening & Global Resource Center   - An independent U.S. national resource center for newborn screening as well as global newborn screening information. Site provides consultative services, program reviews, selected national data, hosts a respected international discussion listserv, and provides information and resources for health professionals, consumers, public health professionals, and others.

Newborn Screening Coding and Terminology Guide   - Includes standard codes and terminology for newborn tests for the conditions recommended for screening by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) or by a state within the U.S. (National Library of Medicine (NLM), NIH)

Nextstrain   - Nextstrain is an open-source project to harness the scientific and public health potential of pathogen genome data. Site provides a continually-updated view of publicly available data with powerful analytics and visualizations showing pathogen evolution and epidemic spread, with the goal of aiding epidemiological understanding and improving outbreak response. (nextstrain)

PhenX Toolkit   - The toolkit provides standard measures related to complex diseases, phenotypic traits and environmental exposures. Use of PhenX measures facilitates combining data from a variety of studies, and makes it easy for investigators to expand a study design beyond the primary research focus. (National Human Genome Research Institute)

Public Health Genomics Knowledge Base   - An online, continuously updated, searchable database of published scientific literature, CDC resources, and other materials that address the translation of genomic discoveries into improved health care and disease prevention. (Centers for Disease Control and Prevention (CDC), HHS)

U.S. Genome Variation Estimates - National Office of Public Health Genomics   - These variation estimates are the allele frequency and genotype prevalence estimates of human genetic variants for the entire U.S. population based on DNA data collected from participants in the Third National Health and Nutrition Examination Survey (NHANES III). (Centers for Disease Control and Prevention (CDC), HHS)

Advances in Integrating Genetics into Clinical Care   - The purpose of this program is to serve as a national resource on the use of genetic and genomic information in clinical practice for genetic service providers, primary and specialty health care providers, and families. (Health Resources and Services Administration (HRSA), HHS)

CDC Genomics Funding   - In 2008, CDC's Office of Public Health Genomics (OPHG) started funding five new projects in state health departments and academic and research institutions and to translate human-genome information and applications into education, surveillance, and policy interventions. (Centers for Disease Control and Prevention (CDC), HHS)

Ethical, Legal, and Social Implications (ELSI) of Genomics Exploratory/Developmental Research Grant Program (R21)   - Funding for Exploratory/Developmental Research Grant (R21) applications that propose to study the ethical, legal and social implications (ELSI) of human genome research. These applications should propose single or mixed methods studies that break new ground, extend previous discoveries in new directions or develop preliminary data in preparation for larger studies. (National Institutes of Health (NIH), HHS)

Ethical, Legal, and Social Implications (ELSI) of Genomics Research Project Grant Program (R01)   - Funding for Research Project Grant (R01) applications that propose to study the ethical, legal and social implications (ELSI) of human genome research. Applications may propose studies using either single or mixed methods. Proposed approaches may include but are not limited to data-generating qualitative and quantitative approaches, legal, economic and normative analyses, and other types of analytical and conceptual research methodologies, such as those involving the direct engagement of stakeholders. (National Institutes of Health (NIH), HHS)

Genetics & Public Policy Fellowship   - The American Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics and Public Policy Fellowship to give genetics professionals an opportunity to contribute to the policy-making process. The fellowship is designed as a bridge for genetics professionals wishing to transition to a policy career. (American Society of Human Genetics)

Genetics Education & Engagement Fellowship   - Fellowship to give early career genetics professionals an opportunity to contribute to the development and implementation of national genomics literacy efforts, informal science education, science education policy, program development, and science education research. (American Society of Human Genetics)

National Genetics Education and Family Support Center   - To improve family engagement for individuals and families who have, or at-risk of having, a genetic condition; provide support for such individuals and families; provide education and resources on genetic conditions; and link individuals and families to services, especially those in underserved areas. (Health Resources and Services Administration (HRSA), HHS)

Population-Based Rapid Surveillance of Birth Defects and Neonatal Abstinence Syndrome   - FOA solicits non-research, cooperative agreement applications to strengthen the capacity of existing birth defects surveillance programs to respond to emerging threats to mothers and babies as a key component of preparedness. Objectives to achieve this goal include: 1) expanding birth defects surveillance to include neonatal abstinence syndrome (NAS), 2) improving timeliness of surveillance data, 3) leveraging electronic health records and interoperability capabilities to enhance surveillance of birth defects and NAS, and 4) using the surveillance data to improve health outcomes of affected populations. (Centers for Disease Control and Prevention (CDC), HHS)

Regional Genetics Networks   - To improve health equity and health outcomes in individuals with genetic conditions (including congenital and metabolic disorders), reduce morbidity and mortality caused by genetic conditions, and strengthen and improve the quality of coordinated follow-up and treatment for comprehensive genetic services. (Health Resources and Services Administration (HRSA), HHS)

The GAIN (Greater Access and Impact with NAT) Study: Improving HIV Diagnosis, Linkage to Care, and Prevention Services with HIV Point-of-Care Nucleic Acid Tests (NATs)   - The purpose of this research project is to develop feasible and effective models for using HIV point-of-care nucleic acid tests: (1) to improve pre-exposure prophylaxis (PrEP) initiation and maintenance among persons at high-risk for acquiring HIV infection; (2) to improve viral suppression among persons diagnosed with HIV infection; and (3) to reduce the time between testing in community-based settings, linkage to HIV care and ART initiation. (Centers for Disease Control and Prevention (CDC), HHS)

Genome Statute and Legislation Database   - Database is comprised of state statutes and bills introduced during the 2007-2018 U.S. state legislative sessions. The database is reviewed and updated monthly. Searchable topics in the database include employment and insurance discrimination, health insurance coverage, privacy, research, the use of residual newborn screening specimens, and other topics of interest. (National Human Genome Research Institute)

Newborn Screening Legislation   - Page provides overviews of legislation related to genetic disease screening for infants. (Baby's First Test Newborn Screening Clearinghouse)

2010 State Public Health Genomics Resource Guide   - The guide highlights innovative approaches and challenges by states to integrate genomics into their public health programs with information and resources for states to assess their current work in genomics and identify options for developing their programs. (Association of State and Territorial Health Officials (ASTHO))

Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework   - Study used the CDC Science Impact Framework to trace the impact of public health activities and partnerships on the implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Lynch Syndrome screening recommendation and the 2005 and 2013 USPSTF BRCA1 and BRCA2 testing recommendations. (Centers for Disease Control and Prevention (CDC), HHS)

Genetic Alliance Resource Repository   - Electronic collection of documents, links, audio and video files in topic areas such as newborn screening, family health history, genetic testing, reimbursement, research, drug development, community engagement, and organizational development. (Genetic Alliance)

Genomics & Health Impact Scan Database   - Database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health. (Centers for Disease Control and Prevention (CDC), HHS)

Genomics Publications   - Publications from CDC's Office of Public Health Genomics (OPHG) including annual reports, books, and scientific articles. (Centers for Disease Control and Prevention (CDC), HHS)

Human Genome Editing: Science, Ethics, and Governance (2017)   - Report considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. (National Academies of Science, Engineering, and Medicine (NASEM))

Implications of Genomics for Public Health - Committee on Genomics and the Public's Health in the 21st Century   - This 2005 workshop report summarizes speaker presentations on major scientific and policy issues related to genomics and public health, major supports for and challenges to the translation of genetic research into population health benefits, and approaches for the integration of genomic information into strategies for promoting health and preventing disease. It was funded by a contract from the Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention. (National Institute of Medicine)

Status and potential of bacterial genomics for public health practice: a scoping review   - Next-generation sequencing (NGS) is increasingly being translated into routine public health practice, affecting the surveillance and control of many pathogens. The purpose of this scoping review is to identify and characterize the recent literature concerning the application of bacterial pathogen genomics for public health practice and to assess the added value, challenges, and needs related to its implementation from an epidemiologist’s perspective. (BioMed Central)

The 2010 State Public Health Genomics Resource Guide   - This is the 2nd edition of the Guide; it looks at innovative approaches and challenges by states to integrate genomics into their public health programs. (Association of State and Territorial Health Officials (ASTHO))

    • + Competencies
      • Genomic Competencies for the Public Health Workforce The purpose of this activity is to present essential public health competencies that incorporate specific aspects of genomics and present the required core knowledge, skills, abilities, and crosscutting functions related to public health programs.
    • + Genetic Testing
      • Direct To Consumer Genetic Testing: A Cross-Academies Workshop Presentations and summary from a 2009 public workshop that brought together the scientific, medical, legal, and policy communities along with members of the public to explore the opportunities and challenges posed by direct-to-consumer genetic testing.
      • Direct-to-Consumer Genetic Tests This document cautions consumers about the marketing, sale, and use of at-home genetic tests.
      • Genetic Testing Registry (GTR) Provides a central location for voluntary submission of genetic test information to advance the public health and research into the genetic basis of health and disease. Users can search by test, condition, gene, genetic mutation, and laboratory.
      • Newborn Screening Education Best Practice Framework This framework helps you define the traits of a newborn screening education issue and pair it with a best practice that matches those traits. It also helps you decide if you should design an original approach to address the issue or apply an established strategy.
      • Regulation of Genetic Tests
    • + Online Learning
      • A Method for Introducing A New Competency Genomics The MINC toolkit is a starting point for healthcare providers who want to promote genomic integration into practice to benefit their patients.
      • Behavior, environment, and genetic factors all have a role in causing people to be overweight and obese This collection of educational resources contains information and commentary on discoveries of genetic variants, related disease outcomes, and the complex social, legal, and ethical issues surrounding genetic discoveries related to obesity.
      • Genetic Alliance Webinars Genetic Alliance hosts monthly webinars, which discuss genetics and advocacy, public policy, and organizational development.
      • Medical Resources Resources and links for health professionals on preconception, premature birth, newborn screening, and genetics.
      • Public Health Biology Online course materials for 550.630 Public Health Biology, a class which offers an integrative molecular and biological perspective on public health problems, explores population biology and ecological principles underlying public health, and reviews molecular biology in relation to public health biology.
      • Six Weeks to Genomic Awareness An online series of presentations designed to provide public health professionals a foundation for understanding how genomics advances are relevant to public health.
      • Telling Stories, Understanding Real Life Genetics A web-based resource for health professionals that uses patient stories within a searchable education framework. Annotated stories are accompanied by video clips, expert commentaries and related activities. All stories and accompanying toolkit are downloadable as PDF files.

Enviro-Health Links: Epigenomics and Exposomics   - Provides links to resources related to epigenetics and epigenomics, scientific areas focused on changes in the regulation of gene activity and expression which are not dependent on gene sequence. (National Library of Medicine, Specialized Information Services Division)

GeneEd   - Resource for students and teachers to learn about genetics. The website allows users to explore topics such as Cell Biology, DNA, Genes, Chromosomes, Heredity/Inheritance Patterns, Epigenetics/Inheritance and the Environment, Genetic Conditions, Evolution, Biostatistics, Biotechnology, DNA Forensics, and Top Issues in Genetics. (National Human Genome Research Institute)

Genetics Home Reference   - Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions. (National Library of Medicine (NLM), NIH)

Genomics and Health Impact Blog   - Blog on the results of genomic research, evaluation, and programs conducted by CDC and other institutions around the world from a public health perspective. (Centers for Disease Control and Prevention (CDC), HHS)

My Family Health Portrait   - Internet-based family health history tool that makes it easy for consumers to assemble and share family health history information within the family and with health care practitioners. Better use of health history information can support more informed and personalized patient care. (Office of the Surgeon General, HHS)

National DNA Day - April 25   - National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. The goal of National DNA Day is to offer students, teachers and the public an opportunity to learn about and celebrate the latest advances in genomic research and explore how those advances might impact their lives. (National Human Genome Research Institute)

Talking Glossary of Genetic Terms   - Learning tool to help explain the terms and concepts used in genetic research. The glossary includes descriptions of genetic terms, images, animation, and links to related terms. (National Human Genome Research Institute)

Colloquia Series on Personalized Medicine   - The colloquia addresses the scientific discoveries, business models, and regulatory changes that are necessary to develop new personalized treatments and their companion diagnostics. (American Association for the Advancement of Science)