Search Results
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
…  In the past 10 years, the ability to screen for genetic conditions during pregnancy has improved dramatically. …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
…  2017: The FDA approved DTC-GT for certain health-related conditions.  2018: more than 26 million consumers had … provide information about potential risk for some genetic conditions or for being a carrier for certain genetic … time and cost.  Some DTC-GT companies may test for conditions or traits that do not have confirmed clinical …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
Educational Resources
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations.
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… (e.g., as articulated in an advance directive) and/or conditions that were described in a consent form, even after … from human subjects. IRBs can grant waivers when certain conditions are met, such as if the research poses minimal …
Talking Glossary
Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care.
… personalized medicine and precision medicine. For some conditions, genomic information can be used to help diagnose …