Public Health Resources

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))

Actions in Support of Newborn Screening for Critical Congenital Heart Disease — United States, 2011–2018   - By 2018, all U.S. states and the District of Columbia had implemented newborn CCHD screening policies. Opportunities for program improvement, particularly around data collection, persist. Not all jurisdictions collect screening data or share data among relevant programs. (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)

Protecting Participants, Empowering Researchers: Providing Access to Genomic Summary Results   - The National Human Genome Research Institute just updated the NIH Genomic Data Sharing Policy to again allow unrestricted access to genomic summary results for most of the studies they support in order to advance health or further research purposes. (National Human Genome Research Institute)

Best Practices for Participant and Stakeholder Engagement in the All of Us Research Program   - Report identifies six best practices for engagement in the <I>All of Us</I> program: expanding community partnerships, fostering a spectrum of leadership, engaging a mix of study champions, making precision medicine relevant to communities, building a diverse engagement team, and preparing to talk about uncertainties related to the study. (RAND Corporation)

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health   - Study discusses a translational research framework that features collaboration among multiple health systems with already available genome sequencing data, intervention information, and clinical outcomes. (Public Library of Science)

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. <I>(The Associated Press-NORC Center for Public Affairs Research)</I>

The Promise of Genome Editing Tools to Advance Environmental Health Research Proceedings of a Workshop-in Brief (2018)   - This publication highlights the presentation and discussion of a January 2018 workshop to explore what role genome and epigenome editing tools could play in advancing environmental health research and decision-making. (National Academies Press)

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.

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)

Influenza Virus Resource - National Center for Biotechnology Information   - A browsing tool allows you to compare the sequenced variations of the influenza virus genome. (National Library of Medicine (NLM), NIH)

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)

Resistome Tracker   - 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)

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)

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)

Ethical, Legal, and Social Implications (ELSI) of Genomics Small Research Grant Program (R03)   - Funding for applications to study the ethical, legal and social implications (ELSI) of human genome research. These applications should be for small, self-contained research projects, such as those that involve single investigators. (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)

Investigator Initiated Research in Computational Genomics and Data Science (R01 Clinical Trial Not Allowed)   - The purpose of this funding opportunity announcement (FOA) is to invite applications for a broad range of research efforts in computational genomics, data science, statistics, and bioinformatics relevant to one or both of basic or clinical genomic science, and broadly applicable to human health and disease. (National Human Genome Research Institute)

Investigator Initiated Research in Computational Genomics and Data Science (R21 Clinical Trial Not Allowed)   - The purpose of this funding opportunity announcement (FOA) is to invite applications for a broad range of research efforts in computational genomics, data science, statistics, and bioinformatics relevant to one or both of basic or clinical genomic science, and broadly applicable to human health and disease. (National Human Genome Research Institute)

Multilevel Interventions in Cancer Care Delivery: Follow-up to Abnormal Screening Tests (R01 Clinical Trial Optional)   - Funding to develop and test multilevel interventions to improve follow-up to abnormal screening tests for breast, cervical, colorectal, or lung cancers. (National Institutes of Health (NIH), HHS)

Newborn Screening State Evaluation Program   - The purpose of this program is to collect data in order to improve evaluation of state newborn screening programs and to build state-level capacity to assess and report on the effectiveness of screening, including timeliness, follow up, counseling, and health care services, in reducing the morbidity and mortality caused by heritable disorders in newborns and children. (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)

Public Health Genomics Knowledge Base (PHGKB) Grant Database   - Search engine for finding grant information associated with published literature in <a href="https://phgkb.cdc.gov/PHGKB/translationStartPage.action">Genomics & Health Impact Scan Database</a> and <a href="https://phgkb.cdc.gov/PHGKB/startPagePubLit.action">HuGE Literature Finder Database</a>. Grant information can be searched by disease/condition, environmental risk factors, or gene of study and other free text. The grant information is extracted from the grant data in PubMed records. (Centers for Disease Control and Prevention (CDC), 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)

Genetic Information Nondiscrimination Act (GINA) of 2008 - United States   - (National Human Genome Research Institute)

Genetic Testing and Screening in the Age of Genomic Medicine   - Provides summary information and recommendations from the New York State Task Force on Life and the Law about genetic testing. (New York State Department of Health)

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)

Resources for State Genetics Planning   - (National Newborn Screening & Global Resource Center (NNSGRC))

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))

A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults   - Paper covers the optimal genes to include in genomics-based screening programs, the complexity of identifying a point in time at which to begin screening, who should perform the screening, where the programs should be administered, along with ethical and economic considerations. (National Academy of Medicine)

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)

From public health genomics to precision public health: a 20-year journey   - Open access article reviews the evolution of the field of public health genomics in the United States in the past two decades. (Springer)

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)

Genetics Education and Training: Report of the Secretary's Advisory Committee on Genetics, Health, and Society (2011)   - The report describes the genetics education and training needs of point-of-care health professionals, the public health workforce, and patients and consumers and provides recommendations to address these needs. (U.S. Department of Health and Human Services (HHS))

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)

PHG Foundation Reports   - Published reports and academic papers on public health genomics topics. (PHG Foundation)

Precision Public Health for the Era of Precision Medicine   - Article outlines how the same technologies used for precision medicine can be harnessed for precision public health. (American Journal of Preventive Medicine)

STrengthening the REporting of Genetic Association Studies (STREGA)- An Extension of the STROBE Statement - PloS Medicine   -

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))

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)

American Society of Human Genetics Meetings   - (American Society of Human Genetics)

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)

Genetic Alliance Events   - Events and webinars focusing on topics in health and genetics. (Genetic Alliance)

Genomics and Health Disparities Lecture Series   - A series of lectures aimed at discussing how innovations in genomics research and technology can impact health disparities. (National Human Genome Research Institute)

Public Health Genomics Upcoming Events   - List of selected upcoming genomics-related events. (Centers for Disease Control and Prevention (CDC), HHS)