Public Health Resources

The Promise of Genome Editing Tools to Advance Environmental Health Research Proceedings of a Workshop-in Brief (2018)  Jun-01-2018 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)

Genetic Testing: Ancestry Interest, But Privacy Concerns   Jul-24-2018 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)

Tracking Progress in Public Health Genomics at CDC: A New CDC-Authored Genomics Publication Database   Jul-25-2018 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)

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health  Aug-03-2018 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)

Best Practices for Participant and Stakeholder Engagement in the All of Us Research Program   Aug-17-2018 Report identifies six best practices for engagement in the All of Us 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)

Protecting Participants, Empowering Researchers: Providing Access to Genomic Summary Results  Nov-07-2018 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)

• + Federal
  • Division of Genomic Medicine, National Human Genome Research Institute The Division of Genomic Medicine plans, directs and facilitates multi-disciplinary research to identify genetic contributions to human health and to advance approaches for the use of genomic data to improve diagnosis, treatment and prevention of disease; through research grants, research training grants, and contracts.
  • Genetic Testing Reference Materials Coordination Program (GeT-RM) GeT-RM assesses the quality of laboratory practices in genetic testing with the goal of improving the public's health through continuous improvement in laboratory practice in human genetic testing.
  • Genetic and Rare Diseases Information Center
  • Human Genome Epidemiology Network (HuGENet) The Office of Public Health Genomics established the Human Genome Epidemiology Network (HuGENet) to help translate genetic research findings into opportunities for preventive medicine and public health.
  • National Human Genome Research Institute (NHGRI) NHGRI supports research to understand the structure and function of the human genome and its role in health and disease. A critical part its mission is the study of the ethical, legal and social implications of genome research. NHGRI also supports the training of investigators and the dissemination of genome information.
  • Nutrition and Obesity Genetics and Genomics Resources about genetic linkages to nutrition and obesity, including research and funding opportunities.
  • Pharmacogenetics Research Network - National Institute of General Medical Sciences The NIH Pharmacogenetics Research Network (PGRN) enables multi-disciplinary research groups to conduct studies addressing research problems in pharmacogenetics, the study of how genes affect the way people respond to medicines. The ultimate goal of pharmacogenetics research is to help tailor medicines to people's unique genetic make-ups, making medicines safer and more effective for everyone.
  • Pharmacogenomics at FDA The Genomics and Targeted Therapy Group, in FDA's Office of Clinical Pharmacology, works to advance the application of Genomics in the discovery, development, regulation, and use of medication.
  • Public Health Genomics (CDC)
  • Secretary's Advisory Committee on Genetics, Health and Society - Department of Health and Human Services *Archived content* This Committee advised the Secretary of Health and Human Services on human health and societal issues raised by the development and use of genetic technologies to predict, diagnose, and treat disease. They also discuss the medical, ethical, legal, and social implications arising from their integration into clinical and public health practice.

• + International
  • Foundation for Genomics and Population Health (PHG Foundation) A charitable company registered in England and Wales working to achieve the responsible and evidence based application of genomics and all biomedical sciences to health.
  • Public Health Genomics European Network (PHGEN) - Funded by European Commission This is the official website of the 2nd phase of the Public Health Genomics European Network (PHGEN) project, more specifically known as PHGEN II. The Public Health Genomics European Network (PHGEN) is a cornerstone in the development of Publich Health Genomics in Europe. PHGEN is coordinated from the European Centre for Public Health Genomics (ECPHG) at Maastricht University in The Netherlands.

• + Professional and Research and Advocacy
  • American College of Medical Genetics The mission statement of the organization is: "developing and sustaining genetic and genomic initiatives in clinical and laboratory practice, education and advocacy."
  • American Society of Gene and Cell Therapy A non-profit medical, scientific, and professional organization devoted to the research and development of therapies that involve the introduction of genetic material and/or cells into the body to treat or prevent disease.
  • American Society of Human Genetics (ASHG) Professional membership organization for human genetics specialists worldwide that includes researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses and others involved in or with a special interest in human genetics.
  • Association of Public Health Laboratories Newborn Screening & Genetics The Association of Public Health Laboratories (APHL) strengthens the role of public health laboratories in genetics testing and newborn screening science and practice.
  • Center for Public Health Genomics - Wadsworth Center of the New York State Department of Health The mission of the Center for Public Health Genomics is to focus on the application of NextGen sequencing (NGS) on issues of public health importance
  • Coalition of State Genetics Coordinators The mission of the Coalition of State Genetics Coordinators (CSGC) is to promote core public health functions as they apply to genetics.
  • Genetic Alliance Non-profit health advocacy organization committed to transforming health through genetics with an open network connecting members of parent and family groups, community organizations, disease-specific advocacy organizations, professional societies, educational institutions, corporations, and government agencies.
  • Genetics and Public Policy Center - Johns Hopkins University Created in 2002 by Pew Charitable Trusts to help policymakers, the press, and the public understand and respond to the challenges and opportunities of genetic medicine and its potential to transform global public health. Includes discussion of the implementation of a compulsory web-based registry of genetic tests in the U.S.
  • Genomics Forum - American Public Health Association The Genomics Forum is an interdisciplinary group of individual members of the American Public Health Association who want to explore and contribute to the way that genetics and genomics will be used to affect the health of populations.
  • Human Genome Variation Society The society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. It promotes collection, documentation and free distribution of genomic variation information and associated clinical variations.
  • National Newborn Screening and Genetics Resource Center - Maternal and Child Health Bureau, Genetic Services Branch and the University of Texas Health Science Center at San Antonio, Department of Pediatrics. Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
  • National Society of Genetic Counselors The majority of genetic counselors work in a traditional role as members of a healthcare team; counseling patients about genetic conditions, coordinating clinics, providing patient education, and educating other health professionals about genetics. Includes a Find a Counselor search tool.
  • Personalized Medicine Coalition The Personalized Medicine Coalition (PMC) is an independent, non-profit group including federal agencies, diagnostic companies and advocacy organizations that works to advance the understanding and adoption of personalized medicine for the ultimate benefit of patients.

• + State and Local
  • Chronic Disease Genomics Program
  • Hawaii Department of Health Genetics Program Information about genetics grant projects, clinical resources, and genetics education.
  • Michigan's Genetic Resource Center - Michigan Department of Community Health
  • National Coordinating Center for the Genetic Service Collaboratives Regional genetics collaboratives that work to improve access to local genetic and newborn screening services, information, and resources for individuals and families with heritable disorders.
  • Public Health Genomics - Connecticut Department of Public Health
  • Public Health Genomics Program - Michigan Department of Community Health

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)

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)

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)

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 & Education 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)

Public Health Genomics Knowledge Base (PHGKB) Grant Database  Search engine for finding grant information associated with published literature in Genomics & Health Impact Scan Database and HuGE Literature Finder Database. 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 CDC Cancer Genomics Program: Translating Research into Public Health Practice  This program addresses the utilization of cancer genetic services as a strategy for cancer prevention and control. This funding opportunity supports the implementation and evaluation of public health activities within four core strategies to build the evidence base and disseminate best practices. (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))

• + Newsletters
  • Genomics & Health Impact Update

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))

• + Academic Programs and Centers
  • Center for Applied Genomics - International Center for Public Health
  • Center for Genomics & Society Mission is to conduct transdisciplinary, policy-relevant research and to provide training on the ethical, legal and social implications of large-scale genomic studies and their translation into clinical and public health interventions.
  • Center for Public Health & Community Genomics Supports programs and activities related to genomics education in various settings.
  • Center for Public Health Genomics
  • Institute for Public Health Genetics The University of Washington Institute for Public Health Genetics (IPHG) provides broad, interdisciplinary training for future public health professionals, facilitates research in public health genetics, and serves as a resource for continuing professional education.
  • NCMHD Global Healthshare Initiative The Center works in the areas of agriculture, nutrition, immunity, and enterprise development.
  • Program in Genetic Epidemiology and Statistical Genetics

• + 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.
  • 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 *Archived content* 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)

• + Upcoming Meetings
  • 2019 Newborn Screening and Genetic Testing Symposium April 7-10, 2019; Chicago, IL.

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)