Horizon scanning for new genomic tests

Genet Med. 2011 Feb;13(2):161-5. doi: 10.1097/GIM.0b013e3182011661.


Purpose: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

MeSH terms

  • Genetic Testing / methods*
  • Genetic Testing / trends*
  • Genomics / methods*
  • Genomics / trends*
  • Humans
  • Internet*
  • Search Engine / methods*
  • United States
  • United States Food and Drug Administration