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PMID: 11968082 Published · ppublish English Journal Article Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

GeneTests-GeneClinics: genetic testing information for a growing audience.

Human mutation ·Vol. 19 ·No. 5 ·2002-05-00 ·Pages 501-9

Pagon RA, Tarczy-Hornoch P, Baskin PK, Edwards JE, Covington ML, Espeseth M, Beahler C, Bird TD, Popovich B, Nesbitt C, Dolan C, Marymee K, Hanson NB, Neufeld-Kaiser W, Grohs GM, Kicklighter T, Abair C, Malmin A, Barclay M, Palepu RD

Abstract

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 databases 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.

MeSH Terms
Databases, Genetic/trends Genetic Diseases, Inborn/diagnosis,genetics Genetic Testing/methods,trends Humans Internet Medical Informatics/trends
Authors & Affiliations
20 authors, click to expand affiliations / ORCID
Pagon Roberta A
University of Washington, Seattle, Washington, USA.
Tarczy-Hornoch Peter
Baskin Patricia K
Edwards Joseph E
Covington Maxine L
Espeseth Miriam
Beahler Christine
Bird Thomas D
Popovich Bradley
Nesbitt Charli
Dolan Cynthia
Marymee Kathi
Hanson Nancy B
Neufeld-Kaiser Whitney
Grohs Gina McCullough
Kicklighter Tracy
Abair Cynthia
Malmin Audin
Barclay Matthew
Palepu Rajasri Dharani
Article Info
Journal
Human mutation
Abbr.
Hum Mutat
ISSN
1098-1004
Published
2002-05-00
Pages
501-9
Language
English
Region
United States
NLM ID
9215429
Subset
IM
Grants
NLM NIH HHS · LM06001 · United States
NLM NIH HHS · LM07242 · United States
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