Impact of First-of-Its-Kind Patient-Facing Pharmacogenetics Tool on Dosing Decisions and Treatment Outcomes

Abstract

Germline pharmacogenetics (PGx) is increasingly used to tailor medication selection/dosing. However, existing systems primarily communicate PGx results to providers, limiting direct patient engagement. To address this, we developed YourPGx Oncology, an innovative patient-facing portal that delivers multi-gene PGx results (CYP2D6, UGT1A1, DPYD) through 33 unique, patient-friendly summaries. The utility of this tool was prospectively evaluated in an oncology population, where these pharmacogenes impact high-stakes treatments. Patients enrolled in the PhOCus study (NCT04541381) participated in single-session evaluations of the tool in-person or via videoconference, with a pharmacist available for questions and administering pre- and post-surveys that assessed educational impact. Each patient viewed their own previously obtained PGx results. Of 190 eligible patients, 70 responded to solicitations via email, phone, and in-person, of whom 51 (73%) completed an observed session and completed surveys. Patients spent a median of 13.4 minutes (range 8.1-21.0) navigating YourPGx Oncology. After portal interaction, patients' ability to identify individual efficacy and safety estimates for chemotherapies and pain medications significantly improved, with the proportion accurately recognizing PGx-informed drug efficacy likelihoods rising from 32% to 72% (Odds Ratio [OR] = 5.8 for the shift from discordant to concordant efficacy knowledge, P < 0.001), and PGx-related toxicity recognition increasing from 31% to 57% (OR = 3.2, P = 0.01). Our findings show that a customized patient-facing PGx results portal enhances patient understanding of individual medication efficacy and toxicity likelihoods, highlighting the potential key role of direct-to-patient PGx tools to facilitate optimized treatment-informed care and promote genetically guided shared decision-making.

Figure 1

Example screenshot from the YourPGx Oncology portal showing representative PGx results and information for DPYD and CYP2D6 for patients receiving 5‐fluorouracil and tramadol.

Figure 2

(a) Proportion plot illustrating the shift in survey responses before (Pre‐Survey) and after (Post‐Survey) using the PGx portal. Participants were asked to rate their agreement with the statement: “My healthcare providers incorporate ‘personalized medicine’ into my treatments.” The difference in bar lengths on the left and right sides of the chart represents changes in the distribution of respondents across the Likert‐scale options (Strongly Agree, Somewhat Agree, Somewhat Disagree, Not Sure). (b) Proportion plot illustrating the shift in survey responses before (Pre‐Survey) and after (Post‐Survey) using the PGx portal. Participants were asked to rate their agreement with the statement: “Based on my current knowledge, I wish my doctor had pharmacogenomic information before prescribing a new medication for me.” The difference in bar lengths on the left and right sides of the chart represents changes in the distribution of respondents across the Likert‐scale options before and after using the PGx portal (Strongly Agree, Somewhat Agree, Somewhat Disagree, Not Sure).

Figure 3

(a) Proportional shift in patient‐perceived opioid efficacy before and after using the PGx portal, based on responses to the question: “Based on my pharmacogenomic results, there are medications I may be prescribed that could potentially…” with the options: Very effective, Somewhat effective, Ineffective, or I can't remember. (b) Patient level metabolizer status and knowledge concordance for opioids efficacy before and after interacting with the PGx portal. Each icon represents an individual patient. Columns represent patient survey responses before (Pre) and after (Post) interacting with the PGx portal. Icon colors denote metabolizer phenotypes: Red = Poor Metabolizer (PM), Yellow = Intermediate Metabolizer (IM), Green = Normal Metabolizer (NM), Ultra Metabolizer (UM). A checkmark (✔) indicates a correct response, an “X” denotes an incorrect response, and a question mark (?) signifies “I can't remember”.

Figure 4

(a) Proportional shift in patient‐perceived safety of their chemotherapy regimen and/or opioid‐related toxicities before and after using the PGx portal, based on responses to the question: “Based on my pharmacogenomic results, there are medications I may be prescribed that could potentially…” with the options: “Have dangerously increased risk of side effects,” “Have somewhat increased risk of side effects,” “Are generally safe for me,” or “I can't remember.” (b) Patient level metabolizer status and knowledge concordance for chemotherapy regimen and/or from opioid‐related toxicities before and after interacting with the PGx portal. Columns represent patient survey responses before (Pre) and after (Post) interacting with the PGx portal. Icon colors denote metabolizer phenotypes: Red = Poor Metabolizer (PM), Yellow = Intermediate Metabolizer (IM), Green = Normal Metabolizer (NM). A checkmark (✔) indicates a correct response, an “X” denotes an incorrect response, and a question mark (?) signifies “I can't remember.”