Lay understandings of drug-gene interactions: The right medication, the right dose, at the right time, but what are the right words?

As pharmacogenomic (PGx) testing increases in popularity, lay concepts of drug-gene interactions set the stage for shared decision making in precision medicine. Few studies explore what recipients of PGx results think is happening in their bodies when a drug-gene interaction is discovered. To characterize biobank participants' understanding of PGx research results, we conducted a focus group study, which took place after PGx variants conferring increased risk of dihydropyrimidine dehydrogenase (DPD) deficiency were disclosed to biobank contributors. DPD deficiency confers an increased risk of adverse reaction to commonly used cancer chemotherapeutics. Ten focus groups were conducted, ranging from two to eight participants. Fifty-four individuals participated in focus groups. A framework approach was used for descriptive and explanatory analysis. Descriptive themes included participants' efforts to make sense of PGx findings as they related to: (1) health implications, (2) drugs, and (3) genetics. Explanatory analysis supplied a functional framework of how participant word choices can perform different purposes in PGx communication. Results bear three main implications for PGx research-related disclosure. First, participants' use of various terms suggest participants generally understanding their PGx results, including how positive PGx results differ from positive disease susceptibility genetic results. Second, PGx disclosure in biobanking can involve participant conflation of drug-gene interactions with allergies or other types of medical reactions. Third, the functional framework suggests a need to move beyond a deficit model of genetic literacy in PGx communication. Together, findings provide an initial evidence base for supporting bidirectional expert-recipient PGx results communication.

"Who Doesn't Like Receiving Good News?" Perspectives of Individuals Who Received Genomic Screening Results by Mail.

As genomic sequencing expands to screen larger numbers of individuals, offering genetic counseling to everyone may not be possible. One approach to managing this limitation is for a genetic counselor to communicate clinically actionable results in person or by telephone, but report other results by mail. We employed this approach in a large genomic implementation study. In this paper, we describe participants' experiences receiving genomic screening results by mail. We conducted 50 semi-structured telephone interviews with individuals who received neutral genomic screening results by mail. Most participants were satisfied receiving neutral results by mail. Participants generally had a good understanding of results; however, a few participants had misunderstandings about their genomic screening results, including mistaken beliefs about their disease risk and the comprehensiveness of the test. No one reported plans to alter health behaviors, defer medical evaluations, or take other actions that might be considered medically problematic. Reporting neutral results by mail is unlikely to cause recipients distress or generate misunderstandings that may result in reduced vigilance in following recommended preventive health strategies. Nonetheless, some individuals may benefit from additional genetic counseling support to help situate their results in the context of personal concerns and illness experiences.

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.

At a Moment's Notice: Community Advisory Board Perspectives on Biobank Communication to Supplement Broad Consent.

INTRODUCTION: To address ethical concerns about the of future research authorization, biobanks employing a broad model of consent can design ongoing communication with contributors. Notifying contributors at the time of sample distribution provides one form of communication to supplement broad consent. However, little is known about how community-informed governance might anticipate contributor responses and inform communication efforts. OBJECTIVE: We explored the attitudes of members of a three-site Community Advisory Board (CAB) network. CAB members responded to a hypothetical proposal for notifying biobank contributors at the time of sample distribution to researchers utilizing the biobank. METHODS: We used regularly scheduled CAB meetings to facilitate 3 large-group and 6 small-group discussions. Discussions were audio-recorded, transcribed, and analyzed for thematic content using descriptive thematic analysis. RESULTS: The results challenged our expectation of general support for the proposed communications. While CAB members identified some advantages, they were concerned about several potential harms to biobank contributors and the biobank. The CABs understood biobank communication in terms of an ongoing relationship with the biobank and a personal contribution to research. CONCLUSION: Our findings contribute to the emerging literature on community engagement in biobanking. Additional communication with biobank contributors can serve a variety of value-based objectives to supplement broad consent. Design of communication efforts by biobanks can be improved by CAB members' anticipation of the unintended consequences of additional contact with contributors. CAB members' holistic interpretation of communication efforts suggests that biobank leadership considers all communication options as part of a more comprehensive communications strategy.