Abstract 20778: Implementing an EHR-Based Phenotyping Algorithm to Detect Familial Hypercholesterolemia Cases in the eMERGE Network

Introduction: In most countries <20% of prevalent cases of familial hypercholesterolemia (FH) are diagnosed. There is an unmet need to develop EHR-based strategies to increase detection and control of FH. Objective: We assessed performance and portability of an electronic phenotyping algorithm for FH in the electronic MEdical Records and GEnomics (eMERGE) Network. Methods: Using the Phenotype KnowledgeBase (PheKB) platform, we deployed an electronic algorithm to ascertain FH at 5 adult sites. Family history of premature ASCVD/FH, findings of tendon xanthomas and corneal arcus were assessed using natural language processing (NLP) systems. LDL cholesterol levels, secondary hypercholesterolemia, and medications were ascertained from structured data sources. Personal history of premature ASCVD was defined using both code-based and NLP systems. Implementation was assessed by a 15-question survey at each site, including a 5-point Likert scale (very difficult/undesirable to excellent/very desirable) for ease of ...