Using user-centered design to better understand challenges faced during genetic analyses by novice genomic...

The lack of user-centered design principles in the current landscape of commonly-used bioinformatics software tools poses challenges for novice genomics researchers (NGRs) entering the modern genomics ecosystem. Comparing the usability of one analysis software to that of another is a non-trivial task and requires evaluation criteria that incorporates perspectives from both existing literature and a diverse, underrepresented user base of NGRs. To better characterize these barriers, we utilized a two-pronged approach consisting of a retrospective literature review of existing bioinformatics tools and prospective semi-structured interviews of the needs of NGRs. From both knowledge sources, the key findings that resulted in poor adoption and sustained use of most bioinformatics tools included: poor documentation, lack of readily-accessible informational content, challenges with installation and dependency coordination, and inconsistent error messages/progress indicators. Combining the results from the literature review and the insights gained by interviewing the NGRs, an evaluation rubric was created that can be utilized to grade existing and future bioinformatics tools. This rubric acts as a summary of key components needed for software tools to cater to the diverse needs of both NGRs and experienced users. Due to the rapidly evolving nature of genomics research, it becomes increasingly important to critically evaluate existing tools and develop new ones that will help build a strong foundation for future exploration.