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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 …