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National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2019.
… Prior to Morphogenesis Rubin – Coupled Single-Cell CRISPR Screening and Epigenomic Profiling Reveals Causal Gene …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… in the United States and can be detected through newborn screening. Children with MMA suffer from frequent …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… of colorectal cancer can assess disease risk and guide screening and preventive measures. Other tests can predict …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… will be on the forefront of managing prenatal whole genome screening," Mr. Berkman said. "Our research will hopefully …
News Release
My Family Health Portrait is a downloadable tool to complete a family health history on a personal computer.
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… cancer risk assessment, pharmacogenomics, carrier screening,DTC interpretation/validation, on the primary care …
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.
… data can cause false results, where a person could be at high risk for a disease but not receive a high-risk score because their genomic variants are not … individuals. About 1 in 5 participants were found to be at high risk for at least one of the 10 diseases. Most …
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… & Objectives: Employers’ perspective on preemptive genomic screening in employee wellness Moderators: Geoff Ginsburg …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… in different risk categories and provide beneficial screening strategies and treatments. Ideally, in the future …
Event
Opening remarks from Eric Green, Christopher Donohue and Michael Rembis.
… are ever-present, where, for example, omnipresent prenatal screening and diagnosis as well as emerging gene-editing … or cultural constraints, but simply availability of screening technologies. As others will no doubt emphasize …