Usability study of clinical exome analysis software: top lessons learned and recommendations

Area of Science:

• Genomics and Bioinformatics
• Human Genetics
• Clinical Informatics

Background:

• Next-generation sequencing technologies, particularly exome analysis, are increasingly used in clinical genetics.
• Interpreting the vast number of genetic variants identified requires sophisticated computational tools and expert assessment.
• The clinical adoption of exome analysis is hindered by challenges in software usability.

Purpose of the Study:

• To identify key features of effective user interfaces for clinical exome analysis software from the perspective of expert clinical geneticists.
• To assess user-system interactions to pinpoint strengths and weaknesses of current software.
• To inform future software design and accelerate the clinical integration of exome analysis.

Main Methods:

• Surveys, interviews, and cognitive task analysis were employed.
• Ten clinical geneticists used two next-generation exome sequence analysis software packages.
• The "think aloud" method was used, with interactions time-stamped and annotated to identify usability issues.

Main Results:

• 193 usability issues were identified, primarily related to interface layout, navigation, and report resolution.
• Clinicians performed best with systems structured into well-defined, customizable layers aligned with clinical workflows.
• Opportunities exist to significantly speed up clinician analysis and interpretation of patient genomic data.

Conclusions:

• This is the first study applying usability methods to evaluate clinical exome analysis software interfaces.
• User feedback revealed critical usability challenges and opportunities for software reengineering.
• Improved software design is essential for the widespread clinical adoption of large-scale genome analysis in healthcare.