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Updated: May 4, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation
Cinnamon S Bloss1, Nicholas J Schork, Eric J Topol
1Scripps Genomic Medicine, Scripps Translational Science Institute, and Scripps Health, La Jolla, California, USA.
Direct-to-consumer pharmacogenomic (PGx) testing increased physician visits and result sharing among consumers. The testing did not negatively impact psychological health or distress, suggesting a safe integration into healthcare decisions.
Area of Science:
- Genomics
- Consumer Health
- Pharmacogenomics
Background:
- Direct-to-consumer (DTC) genomic testing is controversial, with limited research on its impact on consumer behavior, especially for pharmacogenomic (PGx) testing.
- Understanding consumer behavior changes after DTC PGx testing is crucial for assessing its real-world utility.
Purpose of the Study:
- To evaluate the impact of DTC pharmacogenomic (PGx) testing on consumer behavior, healthcare utilization, and psychological status.
- To compare outcomes between consumers who received their PGx results and those still awaiting them.
Main Methods:
- Recruited adults who purchased DTC genomic tests and underwent PGx testing.
- Compared healthcare utilization and psychological status between PGx test recipients and non-recipients.
- PGx testing analyzed genetic variations for 12 medications' effectiveness and side effect risks.
Main Results:
- PGx test recipients showed increased physician visits (p=0.04) and higher likelihood of sharing results with physicians (p=0.001).
- Physicians ordered additional tests for PGx recipients more often (p=0.01).
- No significant differences in anxiety symptoms or test-related distress were observed between groups.
Conclusions:
- DTC PGx risk profiling in this sample was linked to greater physician engagement.
- The testing did not lead to adverse psychological effects or increased distress.
- DTC PGx testing appears to be a safe tool for informing consumer healthcare decisions and physician interactions.
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