GenomiX

Abstract

The increase in the availability of personal genomic data to lay consumers using online services poses a challenge to HCI researchers: such data are complex and sensitive, involve multiple dimensions of uncertainty, and can have substantial implications for individuals' well-being. Personal genomic data are also unique because unlike other personal data, which constantly change, genomic data are largely stable during a person's lifetime; it is their interpretation and implications that change over time as new medical research exposes relationships between genes and health. In this paper, we present a novel tool for self exploration of personal genomic data. To evaluate the usability and utility of the tool, we conducted the first study of a genome interpretation tool to date, in which users used their own personal genomic data. We conclude by offering design implications for the development of interactive personal genomic reports.

Exploring Genetic Data Across Individuals: Design and Evaluation of a Novel Comparative Report Tool

“…We focused on highlighting 3 dimensions of the data, which were found to be particularly important when exploring personal genomic information [22]: impact , which refers to type of effect (eg, whether the gene variant causes or protects against disease), rarity , which highlights gene variants that are especially unusual (high rarity indicates low frequency in the population), and certainty , which describes the strength of scientific evidence supporting a putative effect. Comparing and contrasting people’s data across these dimensions can help them explore commonalities and differences, as well as implications for potential future health conditions.…”

“…In visualizing these dimensions, we drew upon GenomiX [22], an interactive gene variant report for a single genome, where color, size, and position represent impact, rarity, and certainty, respectively. The 3 visual prototypes we developed for CrossGenomics use the same visual encoding as Genomix for representing individual variants but are varied in the visualization technique used for depicting and comparing multiple gene variant reports.…”

“…Comprehension of pretask material was assessed by a 6-question quiz [3,22]. Those who failed to answer at least 3 questions correctly were excluded from the analysis.…”

“…Shaer et al [3] compared alternative designs of visual genetic variant reports and showed that a bubble-chart visualization is more effective than other design approaches. On the basis of this finding, they developed a visual tool for nonexperts to explore their own personal genomics information [22]. In this study, we draw on design recommendations introduced by Shaer et al [22] and apply them to the design of a multiperson genetic report that supports the comparison of multiple genomes.…”

“…On the basis of this finding, they developed a visual tool for nonexperts to explore their own personal genomics information [22]. In this study, we draw on design recommendations introduced by Shaer et al [22] and apply them to the design of a multiperson genetic report that supports the comparison of multiple genomes.…”