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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – … of Us Cohort P058 Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC. … genomic information would travel with the patient and the clinical use of it achieved through bioinformatics systems, … rapid utilization of genomic data. For example, advanced clinical decision support systems (CDSS) could leverage …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… criteria, adapted from the National Library of Medicine's Genetics Home Reference . Analytical Validity: Refers to how … whether a specific genetic variant is present or absent? Clinical Validity: Refers to how well the genetic variant(s) … of having a disease or eventually developing a disease? Clinical Utility: Refers to whether the test can provide …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… … Genomic medicine has the capacity to revolutionize clinical practice. The mapping of the human genome has … Tests and Services  (HHS Secretary's Advisory Committee on Genetics, Health, and Society) An Evidence Framework for … Sciences, Engineering, and Medicine) Another issue where genetics intersects with health insurance is genetic …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: … Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different? Presenter: … Augmentation At Its Finest: How to use genomic based clinical informatics to change the clinical culture that …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… Many Americans wonder if participating in genetics research or undergoing genetic testing will lead to … for why or why not patients decide to take genetics-based clinical tests or volunteer to participate in the research … Act of 2008, Public Law 110-223 . … GINA and Clinical Research GINA has implications for individuals …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new … that a study participant in an investigation of the genetics of heart disease possesses a gene variant related to … law regarding return of genetic IRRs and IFs is the Clinical Laboratory Improvement Amendments of 1988 (CLIA) , …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… disparities often stem from systemic discrimination, not genetics, these false results are a way that inequitable …
Event
NHGRI hosted a webinar to provide an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for Applications (RFA-HG-20-048 and RFA-HG-20-049).
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.