Mapping Metaphor: A qualitative analysis of metaphorical language in discussions of receiving exome and whole genome sequencing results

Thesis (Master's)--University of Washington, 2014The rapid integration of genomics into clinical care, growing interest in offering genetic results to research participants, and consumer enthusiasm for personalized genomics requires greater understanding of how individuals conceptualize and communicate about genetic information, preferences for genetic information, and individual genetic results. At stake are the potential benefits and harms of accurate communication versus miscommunication. Metaphors such as the "genome as a blueprint" have been well studied in public discourse as a vehicle for conceptualizing genetics; however, the applicability of these metaphors to the translation of personal genetic information is largely unknown. We performed a qualitative analysis of metaphorical language in 40 interviews and 13 focus groups in which participants (n=109) were asked to discuss their preferences for and expectations about receiving genetic results from whole genome or exome sequencing. We identified several salient conceptual metaphors in which participants compared genetic information to physical objects such as tools, weapons, and goods in boxes. Dichotomies and tensions within these metaphors suggest the importance of agency and different loci of control. In some cases, genetic information empowered the individual to act (e.g., a weapon in their arsenal) while in other cases it overpowered them (e.g., they are bombarded by genetic information). Participants used metaphors such as storing results in a "lockbox" or unintentionally opening "Pandora's box" to describe the potential benefits and harms of incidental sequencing results. Metaphors comparing whole genome sequences to formal documents or reports (e.g., credit report) raised questions of authorship, ownership, and interpretability, and resonated with well-known genetics metaphors in the public domain (e.g., blueprint, recipe, book of life). These results have practical implications for understanding and perhaps influencing how research participants and patients perceive the desirability, utility, and actionability of genetic information. Our findings suggest that increased awareness of and attention to metaphorical language may serve to improve communication between stakeholders when discussing genetic information