This Request for Comment (RFC) seeks public comments on a proposed update to the access procedures for genomic summary results under the Genomic Data Sharing (GDS) Policy. Comments are requested by October 20, 2017. (National Human Genome Research Institute)
Medical claims data from Truven Health Analytics MarketScan Commercial Claims and Encounters databases were used to estimate rates of BRCA testing and receipt of preventive interventions after BRCA testing among women aged 18-64 years with employer-sponsored health insurance in metropolitan and nonmetropolitan areas of the United States, both nationally and regionally. (Morbidity and Mortality Weekly Report (MMWR))
September is Newborn Screening Awareness Month! Throughout the month of September, Baby's First Test will be sharing newborn screening facts, videos and stories through our Facebook, Twitter and Instagram channels as well as highlighting education and awareness efforts from communities and organizations across the nation. (Baby's First Test Newborn Screening Clearinghouse)
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. (Centers for Disease Control and Prevention (CDC), HHS)
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. (U.S. Food & Drug Administration (FDA), HHS)
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. (Centers for Disease Control and Prevention (CDC), HHS)
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. (National Institutes of Health (NIH), HHS)
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. (National Institutes of Health (NIH), HHS)
*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. (U.S. Department of Health and Human Services (HHS) USA)
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.
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.
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.
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.
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. (American Public Health Association (APHA))
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.
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.
The OMICS-ETHICS Research Group performs research about ethics in pharmacogenomics, nutrigenomics, public health genomics, nanotechnologies, human enhancement, the genetics of brain disorders, and knowledge translation. (University of Montreal)
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.
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. (Maternal and Child Health Bureau (MCHB), HRSA, HHS)
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 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.
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.
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.
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)
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)
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)
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)
Funding to support and accelerate human epigenomic investigations focused on identifying and characterizing the mechanisms by which social experiences at various stages in life, both positive and negative, affect gene function and thereby influence health trajectories or modify disease risk in racial/ethnic minority and health disparity populations. (National Institutes of Health (NIH), HHS)
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)
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)
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)
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)
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 (ASHG), National Human Genome Research Institute)
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))
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)
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) USA)
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))
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 (IOM))
This journal indexed by PubMed formerly known as Community Genetics focuses on the translation of genome-based knowledge and technologies into public policy, disease prevention and the improvement of population health. Read abstracts online for free, subscription required to access full text.
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)
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, National Library of Medicine (NLM), NIH USA)
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 USA)
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)
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)
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)
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. (University of Washington)
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. (Centers for Disease Control and Prevention (CDC), HHS)
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. (National Academies of Science, Engineering, and Medicine (NASEM))
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. (National Center for Biotechnology Information (NCBI), NLM)
*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. (Centers for Disease Control and Prevention (CDC), HHS)
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. (Johns Hopkins University, Bloomberg School of Public Health)
An online series of presentations designed to provide public health professionals a foundation for understanding how genomics advances are relevant to public health. (Michigan Public Health Training Center)
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. (National Genetics Education & Development Centre, UNITED KINGDOM)
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 (AAAS))