Search Results
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic … and the health outcomes and policy implications of that clinical use. Already, genomic medicine is making an impact … use. … Genomic Medicine, Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In …
FAQ
Frequently asked questions from the November 2, 2022 webinar that provided an overview of the Funding Opportunity Announcement (FOA) for the AnVIL Clinical Resource (ACR) RFA-HG-22-021.
… of the ACR to provide functionality to return results to clinical research subjects? Yes, the purpose of the ACR is to provide genomic-based clinical resources within the AnVIL platform to support clinical genomic research. … Will the ACR center be limited …
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 …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… to chance events. … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Dartmouth. He completed medical training in pediatrics and clinical genetics through a joint Children’s National/National Human … bioinformaticists, and bench-based scientists to deliver clinical care and conduct genomic research. In 2016, Dr. …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
For Patients and Families
Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
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 …