Literature DB >> 11968082

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

Roberta A Pagon1, Peter Tarczy-Hornoch, Patricia K Baskin, Joseph E Edwards, Maxine L Covington, Miriam Espeseth, Christine Beahler, Thomas D Bird, Bradley Popovich, Charli Nesbitt, Cynthia Dolan, Kathi Marymee, Nancy B Hanson, Whitney Neufeld-Kaiser, Gina McCullough Grohs, Tracy Kicklighter, Cynthia Abair, Audin Malmin, Matthew Barclay, Rajasri Dharani Palepu.   

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. Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID: 11968082     DOI: 10.1002/humu.10069

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  30 in total

1.  Design of Genetics Home Reference: a new NLM consumer health resource.

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2.  A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project.

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Authors:  I A Hughes; C Houk; S F Ahmed; P A Lee
Journal:  Arch Dis Child       Date:  2006-04-19       Impact factor: 3.791

4.  GeneTests: an online genetic information resource for health care providers.

Authors:  Roberta A Pagon
Journal:  J Med Libr Assoc       Date:  2006-07

5.  Broad issues to consider for library involvement in bioinformatics.

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Authors: 
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7.  The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice.

Authors:  Vivianna M Van Deerlin
Journal:  Acta Neuropathol       Date:  2012-09       Impact factor: 17.088

8.  Challenges and strategies of the Genetics Home Reference.

Authors:  Joyce A Mitchell; Cathy Fomous; Jane Fun
Journal:  J Med Libr Assoc       Date:  2006-07

9.  From phenotype to genotype: issues in navigating the available information resources.

Authors:  J A Mitchell; A T McCray; O Bodenreider
Journal:  Methods Inf Med       Date:  2003       Impact factor: 2.176

10.  Structural implication of splicing stochastics.

Authors:  Eugene Melamud; John Moult
Journal:  Nucleic Acids Res       Date:  2009-06-15       Impact factor: 16.971

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