A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases

Phenotype-based rapid diagnosis can make up for the time-consuming genetic sequencing diagnosis of rare diseases. However, the collected phenotypes of patients can sometimes be inaccurate or incomplete, which limits the accuracy of diagnostic results. To solve this problem, we try to design a phenotype-based differential diagnosis process for rare diseases to achieve rapid and accurate diagnosis of rare diseases.

The core of the differential diagnosis of rare diseases is to optimize the phenotype information of a specific patient and the visualized comparative analysis of diseases. To recommend additional phenotypes, replace the fuzzy phenotypes and filter the unexplained phenotypes for patients, we constructed a phenotype hierarchical network and a disease-phenotype differential network and calculated the phenotype co-occurrence relationship. In addition, we designed a visual comparative analysis method to explore the correlation and difference of disease phenotypes.

The evaluation based on the published 10 rare disease cases demonstrated that after the optimization of patient phenotype information through our differential diagnosis, the target disease often got a better ranking and recommendation score than before. We have deployed this scheme on the RDmap project ( http://rdmap.nbscn.org ).

Compared to genetic and molecular analysis, phenotype-based diagnosis is faster, cheaper, and easier. The differential diagnosis process we designed can optimize the phenotype information of patients and better locate the target disease. It can also help to make screening decisions before genetic testing.