Exploring Genetic Data Across Individuals Using Novel Comparative Report Tools (Preprint)
Authors: Westendorf Lauren , Shaer Orit , Pollalis Christina , Verish Clarissa , Nov Oded , Ball Mad Price 
Published: March 2018

BACKGROUND

The growth in the availability of personal genomic data to non-experts poses multiple challenges to Human-Computer Interaction (HCI) research: data are highly sensitive, complex, and have health implications for individuals and families. However, there has been little research on how non-expert users explore genomic data. Studies that investigated the information practices of personal genomic data users found that non-experts seek to contextualize and compare their personal data to others. The family-relevant nature of genetic data highlights the need for tools to enable non-experts to explore not only their own data, but to compare and contrast it with the data of others.

OBJECTIVE

We designed CrossGenomics, a novel tool for comparing personal genetic reports, which enables exploration of shared and unshared genetic variants among individuals. Focusing on communicating comparative impact, rarity, and certainty, we evaluated alternative novel interactive prototypes of this tool. In particular, we sought to:
1. asses to what extent are users able to comprehend both intra-individual and inter-individual information, and whether there are gaps between subjective and objective comprehension;
2. understand how people engage with a comparison tool for personal genomics, and what visualization type and features are most helpful for comprehension;
3. identify the needs of early adopters, people who share their genetic reports publicly, for comparing their genetic reports to others’.

METHODS

We conducted three online user studies. The first two studies employed a controlled experimental design to examine the effectiveness of different design interventions on user comprehension. In both studies, we applied between-subjects design with alternative views for comparing the personal genomic information of fictional family members. Participants were Amazon Mechanical Turk workers. Building on the two initial studies, the third user study evaluated a redesigned version of CrossGenomics 2.0, which combines multiple views. We recruited 49 participants, who are members of Open Humans and shared their genomic information publicly. Participants used the tool to compare their own personal genomic report to the report of four famous people.

RESULTS

Results from the first two studies highlight strengths of two visualization types and of particular features in enabling user comprehension of genomic data, and demonstrate the value of affording users the flexibility to examine the same report using multiple perspectives. Results from the third study emphasize users’ motivation and needs in comparison of genomic data.

CONCLUSIONS

The familial nature of personal genomic data highlights the need for tools to enable non-experts to explore not only their own data, but to compare and contrast their data with data of other biological family members, who share common genetic characteristics. The design and evaluation of CrossGenomics offer important insights into the design of future tools for personal genomics exploration and comparison.