Assessment of patient perceptions of genomic testing to inform pharmacogenomic implementation

Abstract

OBJECTIVE Pharmacogenomics seeks to improve prescribing by reducing drug inefficacy/toxicity. However, views of patients during pharmacogenomic-guided care are largely unknown. We sought to understand attitudes and perceptions of patients in an institutional implementation project and hypothesized that views would differ based on experience with pharmacogenomic-guided care. METHODS Two focus groups were conducted–one group consisted of patients who had previously submitted to broad pharmacogenomic genotyping with results available to physicians (pharmacogenomic group), while the other had not been offered genotyping (traditional care). Five domains were explored: 1) experiences with medications/side-effects, 2) understanding of pharmacogenomics, 3) impact of pharmacogenomics on relationships with healthcare professionals, 4) scenarios involving pharmacogenomic-guided prescribing, and 5) responses to pharmacogenomic education materials. RESULTS Nine pharmacogenomic and 13 traditional care participants were included. Participants in both groups agreed pharmacogenomics could inform prescribing and help identify problem prescriptions, but expressed concerns over insurance coverage and employment discrimination. Both groups diverged on who should be permitted to access pharmacogenomic results, with some preferring access only for providers with a longstanding relationship, while others argued for open-access. Notably, traditional care participants showed greater skepticism about how results might be used. Case scenarios and tested educational materials elicited strong desires on the part of patients for physicians to engage participants when considering pharmacogenomic-based prescribing, and to utilize shared decision-making. CONCLUSION Participants experiencing pharmacogenomic-guided care were more receptive toward pharmacogenomic information being used than traditional care participants. As key stakeholders in implementation, addressing patients’ concerns will be important to successfully facilitate clinical dissemination.

Impact of SLCO1B1 Pharmacogenetic Testing on Patient and Healthcare Outcomes: A Systematic Review

“…In addition, five large healthcare system–based pharmacogenetics implementation projects of multigene panels, including SLCO1B1 , have reported preliminary or final results: four in the United States (1,200 Patients Project; INdiana GENomics Implementation: an Opportunity for the UnderServed (INGENIOUS); the Marshfield Clinic; and the RIGHT protocol) and one from La Paz University Hospital in Spain ( Table ). Most of these projects are using passive or active CDS in the EHR to support prescriber use of pharmacogenetic results in several different clinically actionable pharmacogenes.…”

“…The study was powered to detect a one-point difference in the primary outcome of a medication adherence scale; secondary outcomes included low-density lipoprotein cholesterol (LDL-C) at 3 and 8 months, the Brief Pain Inventory, and the Short Form Health Survey quality-of-life measure. 42,43 In addition, five large healthcare system-based pharmacogenetics implementation projects of multigene panels, including SLCO1B1, have reported preliminary or final results: four in the United States (1,200 Patients Project 11,(44)(45)(46)(47)(48)(49) ; INdiana GENomics Implementation: an Opportunity for the UnderServed (INGENIOUS) 13,50,51 ; the Marshfield Clinic 12,52 ; and the RIGHT protocol 8,11,12,[53][54][55][56] ) and one from La Paz University Hospital in Spain 10 ( Table 1). Most of these projects are using passive or active CDS in the EHR to support prescriber use of pharmacogenetic results in several different clinically actionable pharmacogenes.…”

Pharmacogenomic (PGx) Counseling: Exploring Participant Questions about PGx Test Results

“…Participants in a focus group study on patient, physician, and pharmacist opinions on PGx conducted by Frigon et al [15] commented on the potential for PGx test results to limit the experience of having a physician discount a patient's report of a drug side-effect as a "psychosomatic" event rather than a real drug side effect. The notion of PGx results potentially leading people to conclude that any and all adverse events from a drug was due to their genetic make-up was noted by Lee et al [16] in their focus group study comparing the attitudes and perceptions of individuals exposed to PGx-guided care versus those of individuals with traditional care. On the other hand, some studies have found that individuals receiving PGx test results may be more medication compliant and willing to tolerate some side effects if PGx testing was utilized to assist with drug and dose selection [2,16,18,19].…”

“…Most participants requesting genetic counseling (54%) were seeking general assistance with understanding their PGx result reports, often alluding to uncertainty regarding whether they should or should not take a given medication in the future based on their results. The expectation for PGx test results to have the potential to inform physician prescribing decisions in a way that maximizes drug efficacy while limiting adverse reactions has been captured in several other studies, including studies of participants who have received PGx results [2,3,[14][15][16][17].…”

“…Others have also documented confusion with PGx test results and the metabolizer status terminology present in the interpretation of those PGx test results. Lee et al [16] asked focus group participants with either prior PGx exposure or none to review educational handouts for clopidogrel and simvastatin PGx results. Participants expressed concern that only four categories were examined (poor metabolizer, intermediate metabolizer, extensive/normal metabolizer, ultra-rapid metabolizer) and wondered if that meant that the testing was either incomplete or too limited in scope to be useful.…”