Evidence map›Paper›PMID 31325501›Full record

ArticleJournal of biomedical informatics2019

Facilitating phenotype transfer using a common data model.

George Hripcsak, Ning Shang, Peggy L Peissig, Luke V Rasmussen, Cong Liu, Barbara Benoit, Robert J Carroll, David S Carrell, Joshua C Denny, Ozan Dikilitas and 12 more

Registry-linked trialAbstract read
In one paragraph

Article in Journal of biomedical informatics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05277116 (The Electronic Medical Records and GEnomics), which is not on this map. Cited by 50 papers.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05277116 naactive not recruitingnot on this mapstarted 2022, after this paper: background citation

The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment

TypeinterventionalSponsorVanderbilt University Medical CenterRan2022 to 2030Enrolled26,877ConditionsGenetic DiseaseArmsGenome Informed Risk Assessment (GIRA) report
3 · Its place in the literature

Who cites it

50 citing papers in PubMed.

  1. Article
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  3. Observational
  4. Article
  5. A pipeline for enabling path-specific causal fairness in observational health data.Proceedings of the ... Conference on Fairness, Accountability, and Transparency · 2026
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  8. Article
  9. Article
  10. Review
  11. Article
  12. Towards cross-application model-agnostic federated cohort discovery.Journal of the American Medical Informatics Association : JAMIA · 2024
    Article
  13. Review
  14. Improving reporting standards for phenotyping algorithm in biomedical research: 5 fundamental dimensions.Journal of the American Medical Informatics Association : JAMIA · 2024
    Article
  15. Review
  16. Article
  17. Review
  18. Characterizing variability of electronic health record-driven phenotype definitions.Journal of the American Medical Informatics Association : JAMIA · 2023
    Article
  19. Translating and evaluating historic phenotyping algorithms using SNOMED CT.Journal of the American Medical Informatics Association : JAMIA · 2023
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

George HripcsakDepartment of Biomedical Informatics, Columbia University, New York, NY, United States; Medical Informatics Services, NewYork-Presbyterian Hospital, New York, NY, United States. Electronic address: hripcsak@columbia.edu.
Ning ShangDepartment of Biomedical Informatics, Columbia University, New York, NY, United States.
Peggy L PeissigCenter for Precision Medicine Research, Marshfield Clinic Research Institute, Marshfield, WI, United States.
Luke V RasmussenNorthwestern University Feinberg School of Medicine, Chicago, IL, United States.
Cong LiuDepartment of Biomedical Informatics, Columbia University, New York, NY, United States.
Barbara BenoitResearch Information Science and Computing, Partners Healthcare, Boston, MA, United States.
Robert J CarrollDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, United States.
David S CarrellKaiser Permanente Washington Health Research Institute, Seattle, WA, United States.
Joshua C DennyDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, United States; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Ozan DikilitasDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, United States.
Vivian S GainerResearch Information Science and Computing, Partners Healthcare, Boston, MA, United States.
Kayla Marie HowellVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, United States.
Jeffrey G KlannResearch Information Science and Computing, Partners Healthcare, Boston, MA, United States.
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, United States.
Todd LingrenCincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
Frank D MentchCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Shawn N MurphyResearch Information Science and Computing, Partners Healthcare, Boston, MA, United States.
Karthik NatarajanDepartment of Biomedical Informatics, Columbia University, New York, NY, United States; Medical Informatics Services, NewYork-Presbyterian Hospital, New York, NY, United States.
Jennifer A PachecoNorthwestern University Feinberg School of Medicine, Chicago, IL, United States.
Wei-Qi WeiDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, United States.
Ken WileyNational Human Genome Research Institute, NIH, Bethesda, MD, United States.
Chunhua WengDepartment of Biomedical Informatics, Columbia University, New York, NY, United States.

Funding

Vanderbilt Institute for Clinical and Translational Research (VICTR) -Identifying correlates of functional immunity in SARS-CoV-2 convalescent plasmaUL1TR002243 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Paul A. Harris, Wesley H Self · 2017 to 2026
$130.7M
The New England Precision Medicine Consortium of the All of Us Research ProgramOT2OD026553 · OD · MASSACHUSETTS GENERAL HOSPITAL · PI CLARK, CHERYL RENEE, KARLSON, ELIZABETH W · 2018 to 2023
$58.8M
VANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7M
The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4M
Technologies and Resources CoreU54MD007593 · NIMHD · MEHARRY MEDICAL COLLEGE · PI ADUNYAH, SAMUEL EVANS · 2012 to 2018
$24.7M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
Finding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
OMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3M
DNA Sequencing Support for the eMERGE NetworkU01HG008664 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2015 to 2019
$10.9M
DISCOVERING AND APPLYING KNOWLEDGE IN CLINICAL DATABASESR01LM006910 · NLM · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HRIPCSAK, GEORGE M · 2000 to 2023
$10.6M
Global Alliance for Genomic Health (GA4GH)U01HG008676 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LENNON, NIALL JOHN, REHM, HEIDI L · 2015 to 2019
$8.6M
NCATS NIH HHS UL1 TR000445NCATS NIH HHS UL1 TR002243NCRR NIH HHS S10 RR025141NCRR NIH HHS UL1 RR024975NHGRI NIH HHS R01 HG009174NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008664NHGRI NIH HHS U01 HG008666NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01 HG008676NHGRI NIH HHS U01 HG008679NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG008684NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG008701NHLBI NIH HHS R01 HL133786NIH HHS OT2 OD026553NIMHD NIH HHS U54 MD007593NLM NIH HHS R01 LM006910
6 · The paper itself

Abstract

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

methodsElectronic 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.

resultsIt 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.

conclusionUsing 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.

Indexed as

Databases, FactualElectronic Health RecordsAttention Deficit Disorder with HyperactivityData CollectionDiabetes Mellitus, Type 2HumansMedical InformaticsNational Human Genome Research Institute (U.S.)Observational Studies as TopicOutcome Assessment, Health CarePhenotypeResearch DesignSoftwareUnited StatesCommon data modelElectronic health recordsPhenotyping

Identifiers

PMID31325501
PMCPMC6697565

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.