Journal
HUMAN MUTATION
Volume 19, Issue 5, Pages 501-509Publisher
WILEY-LISS
DOI: 10.1002/humu.10069
Keywords
genetic testing; genetic counseling; molecular genetic testing; clinical genetics databases; orphan diseases; genetic knowledge base
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Funding
- NATIONAL LIBRARY OF MEDICINE [P41LM006001, P41LM007242] Funding Source: NIH RePORTER
- NLM NIH HHS [LM06001, LM07242] Funding Source: Medline
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The development and usage of two companion NIH-funded genetic testing information databases, GeneTests (www.genetests.org) and GeneClinics (www.geneclinics.org), now merged into one web site, reflect the steadily increasing use of genetic testing and the expanding audience for genetic testing information. Established in 1993 as Helix, a genetics laboratory directory of approximately 110 listings, GeneTests has grown into a database of over 900 tests for inherited diseases, a directory of over 500 international laboratories, a directory of over 1,000 U.S. and international genetics clinics, and a resource for educational/teaching materials and reports of summary genetic test data. GeneClinics, founded in 1997 as an expert-authored, peer-reviewed, disease, specific knowledge base relating genetic testing to patient care, has grown steadily, now containing over 130 expert-authored, peer-reviewed full-text entries relating genetic testing information to diagnosis, management, and genetic counseling of specific inherited diseases. In spring 2001 the two data, bases were merged and in October 2001 the two web sites were merged for the purpose of seamless navigation into the GeneTests,GeneClinics site (www.genetests.org or www.geneclinics.org); the GeneClinics knowledge base was renamed GeneReviews to avoid confusion with the U.S. and international clinic directories. As genetic testing has moved steadily out of research venues and into routine medical practice, the user audience for these databases has become international and expansive and includes healthcare providers, patients, educators, policy makers, and the media. The use of these combined resources has grown to approximately 3,200 visits/day.
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