Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.

ABSTRACT:

Purpose

To investigate the phenotypic presentation of Mendelian disease across the diagnostic trajectory in the electronic health record (EHR).

Methods

We applied a conceptual model to delineate the diagnostic trajectory of Mendelian disease to the EHRs of patients affected by 1 of 9 Mendelian diseases. We assessed data availability and phenotype ascertainment across the diagnostic trajectory using phenotype risk scores and validated our findings via chart review of patients with hereditary connective tissue disorders.

Results

We identified 896 individuals with genetically confirmed diagnoses, 216 (24%) of whom had fully ascertained diagnostic trajectories. Phenotype risk scores increased following clinical suspicion and diagnosis (P < 1 × 10^-4, Wilcoxon ra

SUBMITTER: Tinker RJ 

PROVIDER: S-EPMC11092403 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature