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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
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 …
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) , …
Event
The NHGRI Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network that will explore the changing landscape of genetics from a largely descriptive field and emerging creative fields.
… co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network (UGEN) for the 5th Annual Virtual Workshop titled "Genetics Reimagined: Preparing Students to Explore the … workshop will explore the changing landscape of genetics from a largely descriptive field (how does it work?) …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… These findings, reported in the American Journal of Human Genetics , demonstrate the need to improve these AI tools … said Ben Solomon, M.D., senior author of the study and clinical director at the NIH’s National Human Genome Research … fellow who led the study. “There are not very many clinical geneticists in the world, and in some states and …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… some care as part of your participation. To receive clinical care, you should consult your regular physician. How … and results database of federally and privately supported clinical trials conducted in the United States and around the … detect and treat disease. … Human Subjects Research, Genetics Research, Clinical Trials, Data Privacy, Human …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… of Us identify thousands of associations of proteins and clinical phenotypes 1135W Ariel Williams SGLT2 Inhibitors … PheWAS analysis with PheTK 4043F Nephi Walton Defining a Clinical Data Ecosystem for Genomic Health 1120F … ASHG 2024 … ASHG Policy Forum: The Next Frontier of AI/ML in Human Genetics/Genomics Panelist/Speaker, Dave Kaufman 3:00 – 4:15 …
Policy Issues
Revisions to the Common Rule modernize, simplify, and enhance oversight for human subjects research in the United States.
… biospecimens will undergo WGS. Lastly, consent forms for clinical trials will be subject to a one-time posting … or taken out of the rule entirely. Coverage of All Clinical Trials Only federally-funded clinical trials are … in the United States. ​ … Human Subjects Research, Genetics Research, Clinical Trials, Data Privacy, Human …