J Med Genet 51:83-89 doi:10.1136/jmedgenet-2013-101909
  • Screening
  • Original article

Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation

  1. Eric J Topol1,2,3
  1. 1Scripps Genomic Medicine, Scripps Translational Science Institute, and Scripps Health, La Jolla, California, USA
  2. 2Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA
  3. 3Scripps Clinic, La Jolla, California, USA
  1. Correspondence to Dr Cinnamon S Bloss, Scripps Translational Science Institute, 3344 N. Torrey Pines Court, Suite 300, La Jolla, California 92037, USA; cbloss{at}
  • Received 3 July 2013
  • Revised 13 November 2013
  • Accepted 20 November 2013
  • Published Online First 16 December 2013


Background Direct-to-consumer (DTC) genomic testing has generated controversy, however the actual impact of testing on consumer behaviour has been understudied, particularly for pharmacogenomic (PGx) testing.

Methods We recruited a sample of adults who purchased a DTC genomic test and had previously received their genomic test results for complex disease risk. All participants additionally underwent PGx testing. At follow-up, to assess the impact of PGx testing on consumer behaviour, healthcare utilisation and psychological status were compared between approximately a third of participants who had received their PGx results and the remaining two-thirds of participants who were still awaiting results. The PGx test included genetic testing for drug effectiveness or risk of side effects for 12 medications.

Results At follow-up, there were 481 PGx test recipients and 844 non-recipients still awaiting results. PGx test recipients had more physician visits (p=0.04) and were more likely to share their results with their physician (p=0.001). Both groups showed a decrease in anxiety symptoms from baseline to follow-up, with a trend for PGx recipients to show less of a decrease compared with non-recipients (p=0.10). PGx recipients were more likely to report that their physician ordered additional tests (p=0.01) based on their genomic test. There were no group differences in follow-up test-related distress (p=0.67).

Conclusions DTC PGx risk profiling among a selected sample of individuals was associated with increased physician utilisation and did not result in any adverse changes in psychological health or follow-up test-related distress.