Abstract: We describe the architecture and use of a web-based application that permits discrete phenotype annotation directly within a clinical workflow. The application, known as PheNominal, runs within and interfaces directly with the Epic EHR using Web services. PheNominal facilitates tagging of a patient’s record with terms from the Human Phenotype Ontology. These terms can be imported into a clinical note and are easily incorporated into variant filtering pipelines to accelerate diagnostic genetic and research workflows.

Describe the new knowledge and additional skills the participant will gain after attending your presentation.: Attendees will:
1) Understand both the need for deep phenotyping in a genomic diagnostic pipeline as well as the limitation of current approaches to extracting phenotypic data from the EHR
2) Learn how modern Web services (either vendor-specific or FHIR) and domain-specific ontologies can be harnessed to create point-of-care tools for complex clinical workflows

Authors:

Bimal Desai (Presenter)
Children's Hospital of Philadelphia

Malar Singaravelu, Children's Hospital of Philadelphia
Livija Medne, Children's Hospital of Philadelphia
Ian Krantz, Children's Hospital of Philadelphia