Pheno+: An Electronic Health Record-Integrated, Clinician-in-the-Loop Application for Efficient Phenotyping in Clinical Genomics

Pheno+ cut clinician-curated HPO phenotyping workflow time by 66% in an eight case crossover design, reducing mean total time from 31.1 to 10.5 minutes (p < 0.001).

• Why it matters: Generating structured phenotypes for genomic testing is time- and labor-intensive, creating a bottleneck for downstream analysis and gene prioritization.
• What they did: The SMART on FHIR app embedded in the University of Utah Health EHR uses ClinPhen to extract candidate HPO terms from clinician-selected notes, then clinicians curate them; workflow time and HPO counts were compared against standard chart review.
• The result: In a separate cohort of 17 patients with confirmed monogenic diagnoses, Exomiser ranked the causative gene first in all 17 cases (100%) when using Pheno+-derived HPO terms.

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