Informing the design of direct-to-consumer interactive personal genomics reports

Orit Shaer, Oded Nov, Johanna Okerlund, Martina Balestra, Elizabeth Stowell, Laura Ascher, Joanna Bi, Claire Schlenker, Madeleine Ball

    Research output: Contribution to journalArticle

    Abstract

    Background: In recent years, people who sought direct-to-consumer genetic testing services have been increasingly confronted with an unprecedented amount of personal genomic information, which influences their decisions, emotional state, and well-being. However, these users of direct-to-consumer genetic services, who vary in their education and interests, frequently have little relevant experience or tools for understanding, reasoning about, and interacting with their personal genomic data. Online interactive techniques can play a central role in making personal genomic data useful for these users. Objective: We sought to (1) identify the needs of diverse users as they make sense of their personal genomic data, (2) consequently develop effective interactive visualizations of genomic trait data to address these users' needs, and (3) evaluate the effectiveness of the developed visualizations in facilitating comprehension. Methods: The first two user studies, conducted with 63 volunteers in the Personal Genome Project and with 36 personal genomic users who participated in a design workshop, respectively, employed surveys and interviews to identify the needs and expectations of diverse users. Building on the two initial studies, the third study was conducted with 730 Amazon Mechanical Turk users and employed a controlled experimental design to examine the effectiveness of different design interventions on user comprehension. Results: The first two studies identified searching, comparing, sharing, and organizing data as fundamental to users' understanding of personal genomic data. The third study demonstrated that interactive and visual design interventions could improve the understandability of personal genomic reports for consumers. In particular, results showed that a new interactive bubble chart visualization designed for the study resulted in the highest comprehension scores, as well as the highest perceived comprehension scores. These scores were significantly higher than scores received using the industry standard tabular reports currently used for communicating personal genomic information. Conclusions: Drawing on multiple research methods and populations, the findings of the studies reported in this paper offer deep understanding of users' needs and practices, and demonstrate that interactive online design interventions can improve the understandability of personal genomic reports for consumers. We discuss implications for designers and researchers.

    Original languageEnglish (US)
    Pages (from-to)e146
    JournalJournal of medical Internet research
    Volume17
    Issue number6
    DOIs
    StatePublished - Jun 1 2015

    Keywords

    • Direct-to-consumer genetic testing
    • Genetic testing
    • Genomics
    • Interactive visualizations
    • Personal electronic health records

    ASJC Scopus subject areas

    • Health Informatics

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  • Cite this

    Shaer, O., Nov, O., Okerlund, J., Balestra, M., Stowell, E., Ascher, L., Bi, J., Schlenker, C., & Ball, M. (2015). Informing the design of direct-to-consumer interactive personal genomics reports. Journal of medical Internet research, 17(6), e146. https://doi.org/10.2196/jmir.4415