Facilitating phenotype transfer using a common data model

J Biomed Inform. 2019 Aug:96:103253. doi: 10.1016/j.jbi.2019.103253. Epub 2019 Jul 17.

Abstract

Background: Implementing clinical phenotypes across a network is labor intensive and potentially error prone. Use of a common data model may facilitate the process.

Methods: Electronic Medical Records and Genomics (eMERGE) sites implemented the Observational Health Data Sciences and Informatics (OHDSI) Observational Medical Outcomes Partnership (OMOP) Common Data Model across their electronic health record (EHR)-linked DNA biobanks. Two previously implemented eMERGE phenotypes were converted to OMOP and implemented across the network.

Results: It was feasible to implement the common data model across sites, with laboratory data producing the greatest challenge due to local encoding. Sites were then able to execute the OMOP phenotype in less than one day, as opposed to weeks of effort to manually implement an eMERGE phenotype in their bespoke research EHR databases. Of the sites that could compare the current OMOP phenotype implementation with the original eMERGE phenotype implementation, specific agreement ranged from 100% to 43%, with disagreements due to the original phenotype, the OMOP phenotype, changes in data, and issues in the databases. Using the OMOP query as a standard comparison revealed differences in the original implementations despite starting from the same definitions, code lists, flowcharts, and pseudocode.

Conclusion: Using a common data model can dramatically speed phenotype implementation at the cost of having to populate that data model, though this will produce a net benefit as the number of phenotype implementations increases. Inconsistencies among the implementations of the original queries point to a potential benefit of using a common data model so that actual phenotype code and logic can be shared, mitigating human error in reinterpretation of a narrative phenotype definition.

Keywords: Common data model; Electronic health records; Phenotyping.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Attention Deficit Disorder with Hyperactivity / diagnosis*
  • Data Collection
  • Databases, Factual*
  • Diabetes Mellitus, Type 2 / diagnosis*
  • Electronic Health Records*
  • Humans
  • Medical Informatics
  • National Human Genome Research Institute (U.S.)
  • Observational Studies as Topic
  • Outcome Assessment, Health Care
  • Phenotype
  • Research Design
  • Software
  • United States