Section: New Results

Interactive visualization

Participant : Fanny Chevalier.

The differential diagnosis of hereditary disorders is a challenging task for clinicians due to the heterogeneity of phenotypes that can be observed in patients. Existing clinical tools are often text-based and do not emphasize consistency, completeness, or granularity of phenotype reporting, which can impede clinical diagnosis and limit their utility to genetics researchers. The PhenoBlocks tool described in [13] is a novel visual analytics platform designed to support clinical differential diagnosis. It supports the comparison of phenotypes between patients, or between a patient and the hallmark features of a disorder. An informal evaluation with expert clinicians suggests that the visualization effectively guides the process of differential diagnosis and could reinforce the importance of complete, granular phenotypic reporting.

Figure 4. PhenoBlocks allows to compare the phenotype hierarchies of an undiagnosed query patient to a diagnosed reference patient. During differential diagnosis, clinicians use shared (green) phenotypes to gauge confidence in their diagnostic hypothesis and missing (purple) phenotypes to identify candidates for subsequent analysis.