Youtube: https://youtu.be/BPfKjNHoh9g
Full details OHDSI Phenotype Phebruary and workgroup updates - #76 by Gowtham_Rao
Executive Summary
On February 14, 2025, the team convened to advance and refine key phenotype definitions critical to upcoming diagnostic evaluations and broader research deployment. The discussion centered on six primary areas:
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Project Overview & Code Definition:
The team is on a tight deadline to finalize and extract core phenotype definitions, converting them into JSON files for diagnostic testing by Johnson and Johnson. Clear objectives were set for reviewing, naming, and packaging these definitions, with a progress tracker guiding the next steps. -
Rheumatic Disease Phenotyping:
Focus was placed on refining phenotype definitions for rheumatic diseases. While most definitions are nearly complete, further expert input is needed—especially for cases involving complex scenarios like steroid usage—to ensure clinical accuracy. -
Vision Screening Phenotyping:
The team is developing a pediatric vision screening phenotype using well-child visits as a proxy. They are addressing challenges related to data granularity and stratification by age and time, aiming to validate the approach against real-world screening records. -
Osteoporosis Phenotyping:
An iterative “two out of three” logic is being implemented for osteoporosis, combining diagnosis codes, medication records, and fragility fracture data. Discussions emphasized the need to exclude traumatic fractures and to ensure that the operational criteria align with clinical descriptions. -
Medication Concept Set Challenges:
The refinement of medication groupings, particularly for osteoporosis treatments, is underway. The team is moving away from SPL classifications in favor of RxNorm ingredients to more accurately capture relevant drug formulations and distinguish between monotherapy and combination therapies. -
Operational Next Steps & Diagnostics:
Final steps include updating the progress tracker, standardizing cohort naming conventions, and scheduling diagnostic tests both internally and with external partners. These actions will help identify and resolve any data inconsistencies before broader deployment.
This meeting set the stage for ensuring that phenotype definitions are both clinically robust and operationally ready, supporting the ongoing effort to standardize and validate these definitions across different data sources.