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Standardised and reproducible phenotyping using distributed analytics and tools in the Data Analysis and Real World Interrogation Network (DARWIN EU®)
  • +11
  • Daniel Prieto Alhambra,
  • Francesco Dernie,
  • George Corby,
  • Abigail Robinson,
  • James Bezer,
  • Rowan Parry,
  • Annika M. Jödicke,
  • Talita Duarte-Salles,
  • Peter Rijnbeek,
  • Katia Verhamme,
  • Alexandra Pacurariu,
  • Daniel Morales,
  • Luís Pinheiro,
  • Albert Prats-Uribe
Daniel Prieto Alhambra
University of Oxford Nuffield Department of Orthopaedics Rheumatology and Musculoskeletal Sciences

Corresponding Author:[email protected]

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Francesco Dernie
University of Oxford Medical Sciences Division
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George Corby
University of Oxford Medical Sciences Division
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Abigail Robinson
University of Oxford Medical Sciences Division
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James Bezer
University of Oxford Medical Sciences Division
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Rowan Parry
Erasmus University Medical Centre
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Annika M. Jödicke
University of Oxford Nuffield Department of Orthopaedics Rheumatology and Musculoskeletal Sciences
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Talita Duarte-Salles
Erasmus University Medical Centre
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Peter Rijnbeek
Erasmus University Medical Centre
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Katia Verhamme
Erasmus University Medical Centre
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Alexandra Pacurariu
European Medicines Agency
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Daniel Morales
European Medicines Agency
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Luís Pinheiro
European Medicines Agency
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Albert Prats-Uribe
University of Oxford Nuffield Department of Orthopaedics Rheumatology and Musculoskeletal Sciences
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Abstract

Purpose The generation of representative disease phenotypes is important for ensuring the reliability of the findings of observational studies. The aim of this manuscript is to outline a reproducible framework for reliable and traceable phenotype generation based on real world data for use in the Data Analysis and Real-World Interrogation Network (DARWIN EU®). We illustrate the use of this framework by generating phenotypes for two complex diseases: pancreatic cancer and systemic lupus erythematosus (SLE). Methods The phenotyping process involves a 14-step process based on a standard operating procedure co-created by the DARWIN EU® Coordination Centre in collaboration with the European Medicines Agency. A number of bespoke R packages were utilised to generate and review codelists for two phenotypes based on real world data mapped to the OMOP Common Data Model. Results Phenotypes were generated for both pancreatic cancer and SLE, and cohorts were generated using the Clinical Practice Research Datalink (UK primary care records) and Pharmetrics (US health claims data). Diagnostic checks were performed, which showed these cohorts had broadly similar incidence and prevalence figures to previously published literature. Additionally, co-occurrent symptoms, conditions, and medication use were in keeping with pre-specified clinical descriptions based on previous knowledge. Conclusions Our detailed phenotyping process makes use of bespoke tools and allows for comprehensive codelist generation and review, as well as large-scale exploration of the characteristics of the generated cohorts. Wider use of structured phenotyping methods will be important in ensuring the reliability of observational studies for regulatory purposes.
Submitted to Pharmacoepidemiology and Drug Safety
22 Feb 2024Review(s) Completed, Editorial Evaluation Pending
26 Feb 2024Editorial Decision: Revise Major
18 Jun 20241st Revision Received
18 Jun 2024Submission Checks Completed
18 Jun 2024Assigned to Editor
01 Aug 2024Review(s) Completed, Editorial Evaluation Pending
06 Aug 2024Editorial Decision: Revise Major
03 Oct 20242nd Revision Received
03 Oct 2024Submission Checks Completed
03 Oct 2024Assigned to Editor
03 Oct 2024Review(s) Completed, Editorial Evaluation Pending
06 Oct 2024Editorial Decision: Accept