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Converting OMOP CDM to phenopackets: A model alignment and patient data representation evaluation.

Kayla Schiffer-Kane1, Cong Liu1, Tiffany J Callahan1

  • 1Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA.

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|May 22, 2024
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Summary
This summary is machine-generated.

This study aligns Observational Medical Outcomes Partnership (OMOP) and Phenopackets data models to enhance precision medicine interoperability. A new pipeline and UMLS semantic type filtering improve real-world patient data mapping to Phenopackets, aiding clinical applications.

Keywords:
Data modelHealth data standardsInteroperabilityOMOP-CDMPhenopackets schemaPhenotyping

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Area of Science:

  • Biomedical Informatics
  • Translational Research
  • Precision Medicine

Background:

  • Interoperability is crucial for precision medicine and translational research.
  • Existing data models like OMOP and Phenopackets present challenges for seamless data exchange.
  • Phenopackets facilitates multimodal patient data storage and analysis.

Purpose of the Study:

  • To promote interoperability by aligning OMOP and Phenopackets data models.
  • To develop and evaluate a data transformation process for mapping OMOP data to Phenopackets.
  • To assess the suitability of Phenopackets for representing real-world clinical data.

Main Methods:

  • Developed a data transformation process to map OMOP to Phenopackets.
  • Applied the transformation to 1,000 Alzheimer's disease patient records from OMOP.
  • Incorporated Unified Medical Language System (UMLS) semantic type filtering for ambiguous concept alignment.
  • Conducted domain-expert evaluation of the mapping's clinical utility.

Main Results:

  • Successfully mapped required entities for 1,000 Alzheimer's patients, with a 10.2% data loss due to missing OMOP values.
  • UMLS semantic type filtering achieved 96% agreement with clinical thinking, a significant improvement from 68% without it.
  • Identified unmappable Phenopacket attributes for specialty use cases not supported by OMOP.

Conclusions:

  • A pipeline for transforming OMOP to Phenopackets data was established.
  • Key considerations for data quality, validation, and format handling were identified.
  • UMLS semantic type filtering effectively resolves ambiguous alignments, enhancing interpretability.
  • This work addresses key interoperability barriers, facilitating Phenopackets' use in clinical settings.