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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 …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division of Intramural … His efforts will integrate laboratory-based and clinical methods to study several pediatric diseases, …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on … clinical research with the underlying theme that genetics is both a diagnostic and therapeutic specialty.   …
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 …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… sessions” to help gather information from the national genetics and genomics community regarding the current and future state of the clinical geneticist workforce. We will conduct these sessions … views regarding key challenges and potential solutions in clinical genetics and genomics, as well as to determine …
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 …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… the researchers at the National Institutes of Health (NIH) Clinical Center. … Transformative Research Rohith is just one … taking place at NIH is critical. The same cutting-edge clinical medicine that was used to help Rohith might help … M.D., and Tina Romeo, research nurse gather at the NIH Clinical Center to discuss the patient's care. Image Credit: …
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 Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. This makes … informed decisions about participating in genome-editing clinical trials. Gene-editing treatments, which appear to … can influence a person’s decision to participate in a clinical trial.  “Designing clinical trials for curative …