Communicating unexpected pharmacogenomic results to biobank contributors: A focus group study

Objectives: The goals of this study were to explore 1) the impact of returning unexpected pharmacogenomic (PGx) results to biobank contributors, and 2) participant views about improving communication. Methods: We conducted a qualitative focus group study with biobank participants (N = 54) who were notified by mail of an individual research result indicating increased risk for adverse events associated with the common cancer drug 5-fluorouracil (5-FU). We employed a framework approach for analysis. Results: Our results revealed three themes illustrating participants’ questions and uncertainty, especially regarding how to share results with health providers and family members, and remember them over time. Participants valued results for themselves and others, and for the future of medicine. Risk perception was framed by health identity. “Toxicity narratives,” or familiarity with another's adverse reaction to chemotherapy, increased the sense of importance participants reported. Conclusion: These focus group results highlight research participant remaining questions and high valuation of PGx results, even when unexpected. Practice implications: We identify PGx research participants’ needs for clear clinical translation messaging that attends to health identity, pragmatics of sharing information with family members, and patient perceptions of barriers to transferring research results to a clinical context.