There is currently no unique ICD10 code for PCD. This limits efforts to identify and guide affected individuals to appropriate treatment before lung damage occurs, and it hinders initiatives to better understand demographics and outcomes.

Description: This project explores the possibility of utilizing claims data to characterize the diagnostic odyssey in rare disease. The vision is a framework to better characterize their disease and the diagnostic process, providing opportunities for earlier diagnosis and improved care.

After IRB approval (Genetic Alliance), a large claims dataset with 6M+ patients was linked to the 152 de-identified PCD patients from the PCD Foundation’s patient registry in a secure environment.

Lessons Learned: Preliminary findings show it is possible to characterize patient cohorts quantitatively based on aspects of their clinical encounters from claims data. This emphasizes the value of incorporating rare disease patient registry records as ‘gold-standard’ annotated data within a much larger general dataset. This provides a powerful vehicle for exploring the utility of claims data for studying the diagnostic and care journey of rare disease patients.

Stakeholder perspective:

Patient: The registry is the core of the PCDF discovery (data) ecosystem. By investing in clinical grade data, we can efficiently link to claims data years ahead of what we thought possible.

Data scientist: Deidentified data linkage to disease registry members makes longitudinal claims and rich metadata available at large scale.

Industry: Privacy-preserving record linkages allowed rapid data collaboration–less than one month from ideation to data access–given the low risk of using de-identified data.