Literature DB >> 31325501

Facilitating phenotype transfer using a common data model.

George Hripcsak1, Ning Shang2, Peggy L Peissig3, Luke V Rasmussen4, Cong Liu2, Barbara Benoit5, Robert J Carroll6, David S Carrell7, Joshua C Denny8, Ozan Dikilitas9, Vivian S Gainer5, Kayla Marie Howell10, Jeffrey G Klann5, Iftikhar J Kullo9, Todd Lingren11, Frank D Mentch12, Shawn N Murphy5, Karthik Natarajan13, Jennifer A Pacheco4, Wei-Qi Wei6, Ken Wiley14, Chunhua Weng2.   

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.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Common data model; Electronic health records; Phenotyping

Mesh:

Year:  2019        PMID: 31325501      PMCID: PMC6697565          DOI: 10.1016/j.jbi.2019.103253

Source DB:  PubMed          Journal:  J Biomed Inform        ISSN: 1532-0464            Impact factor:   6.317


  24 in total

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2.  Analyzing the heterogeneity and complexity of Electronic Health Record oriented phenotyping algorithms.

Authors:  Mike Conway; Richard L Berg; David Carrell; Joshua C Denny; Abel N Kho; Iftikhar J Kullo; James G Linneman; Jennifer A Pacheco; Peggy Peissig; Luke Rasmussen; Noah Weston; Christopher G Chute; Jyotishman Pathak
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5.  Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience.

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Journal:  J Am Med Inform Assoc       Date:  2011-05-19       Impact factor: 4.497

6.  An evaluation of the NQF Quality Data Model for representing Electronic Health Record driven phenotyping algorithms.

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Authors:  Catherine A McCarty; Rex L Chisholm; Christopher G Chute; Iftikhar J Kullo; Gail P Jarvik; Eric B Larson; Rongling Li; Daniel R Masys; Marylyn D Ritchie; Dan M Roden; Jeffery P Struewing; Wendy A Wolf
Journal:  BMC Med Genomics       Date:  2011-01-26       Impact factor: 3.063

9.  Evaluating Phenotypic Data Elements for Genetics and Epidemiological Research: Experiences from the eMERGE and PhenX Network Projects.

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Authors:  George Hripcsak; David J Albers
Journal:  J Am Med Inform Assoc       Date:  2012-09-06       Impact factor: 4.497

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8.  Blockchain-Authenticated Sharing of Genomic and Clinical Outcomes Data of Patients With Cancer: A Prospective Cohort Study.

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9.  Deep phenotyping: Embracing complexity and temporality-Towards scalability, portability, and interoperability.

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