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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- 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.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not regulated, meaning that they go … Regulation Of Genetic Tests, Genetic Testing, 23andMe, Ancestry, Health Information From Genetic Testing … Most …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… earlier health interventions for people with West African ancestry. … A study from researchers at National Institutes … (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana … African countries, where many African Americans derive genetic ancestry . Studying how these genomic variants …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… and blood clots have only included individuals of African genetic ancestry and self-identified Black participants because of the incorrect assumption that the genetic carrier state only affects those who identify as …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… For patients to have full access to the benefits of genetic testing, payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement. … Genomic medicine has the … of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against … and cures. This page provides an overview of the Genetic Information Nondiscrimination Act (GINA) and … what protections GINA does and does not offer. … The Genetic Information Nondiscrimination Act (GINA) of 2008 …
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.
… can your students expect to see as genetics and genetic engineering grow into a new variety of research and …
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.
… make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate … the researchers designed questions about 63 different genetic conditions. These included some well-known … cystic fibrosis and Marfan syndrome, as well as many rare genetic conditions. These conditions can show up in a variety …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… Patients with genetic disorders and members of the public, both in the … germline genome editing should be used to prevent or treat genetic disorders. … Patients, patient advocates, and families of patients with genetic disorders have diverse views on whether germline …
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
… Medical, Lay Language, and Self-Reported Descriptions of Genetic Conditions 1069T Brian N Lee Understanding ableism in abstracts for genetic and genomic autism research 6044T Dayo Shittu Genetic … islet cell depletion exacerbated in individuals of African ancestry with Type 2 diabetes 5169F Tam Tran Efficient large …
Policy Issues
The 9 steps a bill can go through before becoming a law, using the Genetic Information Non-Discrimination Act of 2003 as an example.
… can go through before becoming a law. The history of the Genetic Information Nondiscrimination Act  (GINA), a law that … a bill can go through before becoming a law, using the Genetic Information Non-Discrimination Act of 2003 as an … a bill can go through before becoming a law, using the Genetic Information Non-Discrimination Act of 2003 as an …