Evaluating the feasibility of the CIPHER metadata framework towards building a conceptual phenotype standard

Phenotype libraries accelerate health research through the reuse of algorithms. However, multiple libraries exist with differing metadata standards. We describe the integration of libraries using shared conceptual standards to harmonize definitions.

We identified a pilot set of definitions from the Observational Health Data Sciences and Informatics (OHDSI), Phenotype Knowledgebase (PheKB), and Health Data Research UK (HDR UK) phenotype libraries. Metadata were mapped to the Centralized Interactive Phenomics Resource (CIPHER) standard, integrated into the CIPHER library, and validated.

Twenty-seven phenotypes from OHDSI, 25 from PheKB, and 25 from HDR UK were mapped to the CIPHER standard and are available at https://phenomics.va.ornl.gov/.

We demonstrate the feasibility of integrating metadata across phenotype repositories and illustrate the CIPHER standard as a suitable initial framework for a global conceptual metadata model.

Harmonizing phenotype metadata across libraries allows the reuse of definitions throughout the entire health data community.