McKing Consulting Corporation, Atlanta, Georgia, USA.
Genet Med. 2011 Feb;13(2):161-5. doi: 10.1097/GIM.0b013e3182011661.
The development of health-related genomic tests is decentralized and dynamic, involving government, academic, and commercial entities. Consequently, it is not easy to determine which tests are in development, currently available, or discontinued. We developed and assessed the usefulness of a systematic approach to identifying new genomic tests on the Internet.
We devised targeted queries of Web pages, newspaper articles, and blogs (Google Alerts) to identify new genomic tests. We finalized search and review procedures during a pilot phase that ended in March 2010. Queries continue to run daily and are compiled weekly; selected data are indexed in an online database, the Genomic Applications in Practice and Prevention Finder.
After the pilot phase, our scan detected approximately two to three new genomic tests per week. Nearly two thirds of all tests (122/188, 65%) were related to cancer; only 6% were related to hereditary disorders. Although 88 (47%) of the tests, including 2 marketed directly to consumers, were commercially available, only 12 (6%) claimed United States Food and Drug Administration licensure.
Systematic surveillance of the Internet provides information about genomic tests that can be used in combination with other resources to evaluate genomic tests. The Genomic Applications in Practice and Prevention Finder makes this information accessible to a wide group of stakeholders.
与健康相关的基因组测试的发展是分散和动态的，涉及政府、学术和商业实体。因此，不容易确定哪些测试正在开发中、当前可用或已停产。我们开发并评估了一种在互联网上识别新基因组测试的系统方法的有用性。
我们设计了针对网页、报纸文章和博客（Google Alerts）的靶向查询，以识别新的基因组测试。我们在 2010 年 3 月结束的试点阶段确定了搜索和审查程序。查询每天继续运行，每周汇总；选定的数据在一个在线数据库中进行索引，即基因组应用于实践和预防资源查找器。
在试点阶段之后，我们的扫描每周检测到大约两到三个新的基因组测试。所有测试中近三分之二（122/188，65%）与癌症有关；只有 6%与遗传性疾病有关。尽管 88 项（47%）测试，包括 2 项直接向消费者销售的测试，已经上市，但只有 12 项（6%）声称获得了美国食品和药物管理局的许可。
对互联网的系统监测提供了有关基因组测试的信息，这些信息可与其他资源结合使用，以评估基因组测试。基因组应用于实践和预防资源查找器使广泛的利益相关者能够获得这些信息。
