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Updated: Sep 18, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Patients' Concerns About Receiving Preemptive Pharmacogenomic Testing: Results from a Large, Longitudinal Survey of
Joel E Pacyna1, Suzette J Bielinski2, Janet E Olson2
1Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN 55905, USA.
Abstract:
Background: As more healthcare institutions consider providing preemptive pharmacogenomic (PGx) testing to greater numbers of their patients, it will be important to consider the potential concerns patients may have about the generation of preemptive PGx information. To date, few studies have examined the nature and incidence of patient concerns about preemptive PGx testing. Methods: We conducted a longitudinal survey study of 5000 patients receiving preemptive PGx testing in the Mayo Clinic RIGHT study. We assessed patient concerns regarding issues of data confidentiality, cost implications, comprehension of results, and potential disruption of pre-existing medication regimens. Participants were surveyed before and after they received PGx results from the RIGHT study. Results: We achieved 92.8% and 74.4% response rates on the pre- and post-results surveys, respectively. Participants had low levels of concern about PGx testing overall. However, 25.5% of participants were "quite/extremely concerned" about insurance implications, and 30.1% were "quite/extremely" concerned about increased out-of-pocket costs for prescription medications that might result from PGx testing. These same concerns were significantly reduced on the post-results survey. Patients who initially expressed concerns regarding their ability to understand PGx results were more likely to report having difficulty understanding results on the post-results survey. Conclusions: Our findings suggest that as healthcare institutions look to increase preemptive PGx screening, attention should be given to potential concerns patients may have around such testing. Educational interventions aimed at supporting patient understanding of PGx results and addressing potential concerns will be important elements of a successful PGx program.
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