Aarti Swaminathan

Calculating the genetic risk for a disease of allelic variants of unknown significance can be a complicated task. AnalyzeMyVariant is a tool designed for genetics experts that uses pedigree data from families with genetic variants of unknown significance, to calculate likelihood ratios that a variant fits pathogenic or benign patterns. In this study, we performed a two-part evaluation of the tool to understand the context within which genetics experts might use this tool, and assess their initial usability perceptions. First, we surveyed existing literature to develop an instrument to assess perceptions of usability based on constructs of usability, quality, and safety. The instrument consisted of scaled as well as open-ended questions assessing users’ perceptions relating to each of the constructs of interest, with regard to their experience with AnalyzeMyVariant. We used the instrument to collect qualitative and quantitative Likert-type data from 57 genetic experts who were recruited via email invitations. The second part of our evaluation was comprised of follow-up, semi-structured interviews with 6 genetics experts to identify work contexts in which users might use the tool, and further delve into issues faced in using the tool. These interviews were inductively coded and major themes identified using the constant comparative method. Based on these findings, we provide recommendations for future improvement of the tool. This work has importance in the consideration of the varying needs of genetics professionals and how they use cosegregation analysis in their work, and the difference between requirements for research-focused and clinically-focused work. The results could also inform the future development of other tools developed for experts, particularly with regard to the attention that must be paid to experts’ context of use, background knowledge, and the intended applicability of results.