User-Centered Design of a Collaborative Genetic Variant Interpretation Tool

Abstract

Precision genomic medicine relies upon accurate variant knowledge. However, laboratories continue to arrive at discordant interpretations for the same genomic test. Gaps, inconsistencies, and siloing of variant knowledge may contribute to inter-rater discordance in variant interpretation. Our overall goal is to develop a novel, openly available computerized tool supporting role-based collaboration, knowledge sharing, and consensus-making in variant interpretation. In Aim 1, we use literature review and informal expert input to characterize a typical variant interpretation workflow, propose a collaborative workflow, and develop an initial design for a computerized tool supporting collaborative variant interpretation. In Aim 2, we use user-centered design methodology to further characterize the typical workflow, define project requirements and user needs, and finalize the design of a tool supporting collaborative variant interpretation.