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Genetics Home Reference, Ten Years In: Where We Are Now [Poster].
Genetics Home Reference (GHR) is an online resource from the U.S. National Library of Medicine (http://ghr.nlm.nih.gov/). This website provides an overview of genetic conditions and associated genes and is intended as a resource for patients, families, and the general public needing information about genomic medicine. GHR also provides background information including a primer (Help Me Understand Genetics), a glossary of genetic and medical terms, and links to numerous other quality resources. The “Spotlight” feature highlights important observances and discoveries in the field of human genetics and draws attention to useful learning tools and clinical resources. The GHR website was launched in 2003 with 19 condition summaries and 16 gene descriptions. Today, GHR offers easy-to-read summaries of more than 720 genetic conditions, more than 960 genes, around 65 gene families, all human chromosomes, and mitochondrial DNA. New summaries are added regularly. During the last ten years of development, GHR has grown in scope and content in order to better serve our audience. This presentation describes the improvements to the website, including new features, changes in focus, and new procedures for development and management, along with the rationale for their inclusion. We provide a discussion of future goals for the project and ways we plan to meet those goals. This work was supported by the Intramural Research Program of the National Institutes of Health, National Library of Medicine.