Ensuring that patients have an adequate understanding of pharmacogenomic (PGx) test results is a critical component of implementing precision medicine into clinical care. However, no PGx-specific validated literacy assessment has yet been developed. To address this need, we developed and validated the Minnesota Assessment of Pharmacogenomic Literacy (MAPLTM). Foundational work included a scoping review of patient and general public attitudes and experiences with pharmacogenomic testing, three focus groups, readability assessments, and review by experts and members of the general public. This resulted in a 15-item assessment designed to assess knowledge in four domains: underlying concepts, limitations, benefits, and privacy. For validation, 646 participants completed the MAPL as a part of a larger survey about pharmacogenomic research and statewide PGx implementation. Two items were deemed to be “too easy” and dropped. The remaining 13 items were retained in the final MAPL with good internal reliability (Cronbach’s alpha = 0.75). Confirmatory factor analysis validated the four-domain construct of MAPL and suggested good model performance and high internal validity. The estimated coefficient loadings across 13 questions on the corresponding domains are all positive and statistically significant (p < 0.05). The MAPL covers multiple knowledge domains of specific relevance to PGx and is a useful tool for clinical and research settings where quantitative assessment of PGx literacy is of value.
6 October 2023 in Clinical and Translational Science
Pharmacogenomics (PGx) implementation into clinical care is rapidly increasing in China. However, the extent to which the public understands PGx testing and important knowledge domains requiring patient education or counseling remains unclear. To address this, we created and validated the Chinese version of the Minnesota Assessment of Pharmacogenomic Literacy (MAPL‐CTM). The MAPL‐C was developed by translating the English MAPL to Chinese following cross‐cultural translation guidelines. An online survey validated the MAPL‐C and assessed Chinese individuals' PGx literacy. Validation analyses were performed and associations of PGx literacy with participants' characteristics were quantified. Of 959 high‐quality responses, the majority of respondents were Han Chinese (96.3%), men (54.5%), aged 18–29 years (70.9%), residing in China (97.3%), and had received college or higher education (95.0%). Out of 15 starting items developed to query specific predefined knowledge domains, two uninformative items were excluded, resulting in a 13‐item MAPL‐C. Chinese participants' MAPL‐C performance was best explained by a three‐factor model, encompassing PGx concepts and function, testing limitations, and privacy. Higher MAPL‐C performance was associated with younger age, higher education, and previous genetic testing experience. Correct response rates for questions related to testing limitations were lower than those in other domains. The creation and validation of the MAPL‐C fills a gap in determining PGx knowledge among Chinese speakers, quantifying PGx literacy within a Chinese cohort, and identifying response patterns and knowledge gaps. The MAPL‐C can be useful in clinical practice to guide patient counseling, assess PGx education interventions, and quantify PGx knowledge in relation to outcomes in research studies involving Chinese participants.
27 November 2025 in Clinical and Translational Science
Pharmacogenomic (PGx) testing using multi‐gene panels (mgPGx) is documented to improve clinical outcomes; however, real‐world data on its economic impact remain limited. This study aimed to evaluate the utility and economic value of mgPGx testing among Medicare patients within a community‐based health system. We identified Medicare Advantage patients within the primary care setting of a community‐based health system hospital who were taking ≥ 1 PGx‐guided medication using a stratification algorithm. In total, 1042 patients participated in mgPGx testing. We evaluated the prevalence of PGx medications, polypharmacy involving PGx medications, and actionable results (i.e., a phenotype with PGx guidance and a relevant PGx medication). A Total Cost of Care (TCOC) analysis was performed for a subset of patients ( n = 548) who underwent PGx testing and were matched to a control group that did not undergo PGx testing using propensity score matching. Total medical expenses over 12 months, both before and after testing, were compared. Forty‐four percent ( n = 454/1042) of patients were ≥ 3 PGx‐guided medications. Over one‐third of patients who were on ≥ 3 PGx medications had ≥ 2 actionable results (35.5%, n = 161/454). The TCOC analysis demonstrated a trend toward a net cost savings of $1827 per member per year (PMPY), with $1582 in medical savings and $245 in pharmacy savings. Polypharmacy with PGx medications is prevalent, and mgPGx led to cost savings. Further research with a larger sample size is needed to replicate the results and assess the long‐term impact on healthcare utilization and costs.
Background: Solute carrier organic anion transporter family member 1B1 (SLCO1B1) mediates statin uptake into hepatocytes, the primary sites of cholesterol production. While the impact of SLCO1B1 variation on statin-associated muscle symptoms (SAMS) is well-documented, its role in LDL-C reduction remains understudied. This single-center, retrospective cohort study evaluated whether SLCO1B1 variation affects statin effectiveness in 213 adults. Methods: The SLCO1B1 variant rs4149056 (NM_006446.5:c.521T>C) was tested to categorize patients by their SLCO1B1 function: normal, decreased, or poor. The primary endpoint was percent change in LDL-C from baseline to follow-up (≥6 weeks post-statin initiation), with secondary endpoints of SAMS occurrence and statin adherence. Results: Overall, the average LDL-C decreased by 32% across all groups. No significant difference in LDL-C reduction was observed between SLCO1B1 phenotypes (p = 0.24). Conclusions: SLCO1B1 variation did not significantly affect LDL-C reduction, SAMS occurrence, or statin adherence. However, the retrospective design and limited adherence data in this study represent important limitations warranting prospective validation studies.
Background/Objectives: Patient interest in pharmacogenomics (PGx) is growing, yet literacy remains low. This study aims to evaluate patient perspectives on pharmacist-led PGx services, assessing community perceptions of PGx pharmacists, their perceived role in care, literacy levels, and willingness to pay for services. Methods: A brief survey was distributed via social media to participants in southern Ohio, northern Kentucky, and southeastern Indiana. This survey included the Minnesota Assessment of Pharmacogenomic Literacy (MAPL), Likert-style questions to assess preferences, and willingness to pay questions with open fields. Upon completion, 152 responses were received. After data cleaning, 82 responses were analyzed. Results: While 66% of participants preferred their primary care provider to order testing, 45% preferred a PGx pharmacist over their primary care provider to explain their results and medication implications. Conclusions: After being educated on the role of a PGx pharmacist, respondents preferred a PGx pharmacist to explain their PGx testing results and any medication implications.