Realization of a Standard of Care for Rare Diseases Using Patient-Engaged Phenotyping [Methods Study], United States, 2018-2020

To diagnose rare genetic conditions, doctors look at patients' genetic data and a phenotypic profile. A phenotypic profile is a record of all the physical traits of a condition. It uses a list of standard terms called Human Phenotype Ontology, or HPO. Doctors and clinic staff do a thorough exam with the patient to create the profile. The exam takes a long time and often more than one visit.
Patients may be able to create phenotypic profiles themselves using surveys. These surveys may take less time than clinic visits. But it is unclear whether patient surveys can provide enough details to correctly identify conditions.
In this project, the research team tested two surveys:

Phenotypr. This survey asks patients to describe their symptoms and then matches the descriptions to plain language HPO or clinical HPO terms.
GenomeConnect. This survey uses multiple choice questions to asks patients about their health and symptoms.