Patients with rare diseases may be the best source of information on their phenotypes (their physical features). The premise of our study is that “self-phenotyping” will be an accurate source of patient data and will empower patients, which may be particularly beneficial to the rare disease population. ClinGen, an NIH-funded resource, developed a patient self-phenotyping survey, GenomeConnect (https://www.genomeconnect.org/), which asks patient-friendly questions that are mapped to a small subset of Human Phenotype Ontology (HPO) terms (https://hpo.jax.org/app/). An alternative method for self-phenotyping is for patients to generate HPO terms for their condition directly. Because most HPO terms are medical and often unfamiliar to patients, the Monarch Initiative translated approximately a third of the HPO terms into layperson language (the other terms were too clinical to have a lay-friendly translation). This layperson version of HPO is a much larger set of HPO terms than those mapped to the GenomeConnect survey. However, the layperson HPO has not yet been incorporated into patient-centered applications, and neither the GenomeConnect survey nor the layperson HPO has been validated to effectively inform diagnosis in patients with rare diseases.
