GeneTests-GeneClinics: Genetic testing information for a growing audience
GeneTests-GeneClinics: Genetic testing information for a growing audience
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DOI：
10.1002/humu.10069
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发表时间：
2002-01-01
期刊：
影响因子：
3.9
通讯作者：
Palepu, RD
中科院分区：
文献类型：
--
作者：
Pagon, RA;Tarczy-Hornoch, P;Palepu, RD
两个由NIH资助的基因检测信息数据库GeneTests（www.genetests.org）和GeneClinics（www.geneclinics.org）的开发和使用现已合并为一个网站，这反映了基因检测的使用稳步增加，基因检测信息的受众不断扩大。GeneTests成立于1993年，是一个遗传学实验室目录，大约有110个列表，现已发展成为一个包含900多个遗传病测试的数据库，一个包含500多个国际实验室的目录，一个包含1,000多个美国和国际遗传学诊所的目录，以及一个教育/教学材料和总结遗传学测试数据报告的资源。GeneClinics成立于1997年，是一个由专家撰写、同行评审的疾病知识库，将基因检测与患者护理相关，现已稳步发展，目前包含130多个由专家撰写、同行评审的全文条目，将基因检测信息与特定遗传性疾病的诊断、管理和遗传咨询相关。2001年春，两个数据库合并，2001年10月，两个网站合并，以便无缝导航到GeneTests，GeneClinics网站（www.genetests.org或www.geneclinics.org）; GeneClinics知识库更名为“GeneReviews”，以避免与美国和国际诊所目录混淆。随着基因检测逐渐从研究场所转移到常规医疗实践中，这些数据库的用户受众已经变得国际化和广泛化，包括医疗保健提供者、患者、教育工作者、政策制定者和媒体。这些综合资源的使用已增至每天约3 200次访问。
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.