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.