Development of self-phenotyping tools to empower patients and improve diagnostics.

ABSTRACT:

Background

Deep phenotyping is important for rare disease diagnostics, often using the Human Phenotype Ontology (HPO). Patients are an under-utilised source; to facilitate self-phenotyping we previously "translated" HPO into plain language. However, self-reported data has not been assessed to date for diagnostic efficacy nor patient opportunities for collaboration with clinical diagnosticians.

Methods

Approximately one-third of the HPO is translatable to layperson HPO terms. We used two instruments to evaluate patients' use of the layperson HPO - the GenomeConnect survey mapped to layperson HPO terms, and a natively layperson HPO-based application, Phenotypr. We created phenotype profiles for 7344 Mendelian diseases for each instrument, representing the theoretical maximum p

SUBMITTER: Shefchek K 

PROVIDER: S-EPMC12616013 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature