Variation in Phenotype Definitions in Observational Clinical Research: A Review of Three Conditions

  • Azza Shoaibi
  • , Anna Ostropolets
  • , James Weaver
  • , Gowtham A. Rao
  • , Asieh Golozar
  • , Joel Swerdel
  • , Vojtech Huser
  • , Atif Adam
  • , Thamir Alshammari
  • , Nnabuchi Anikpezie
  • , William A. Baumgartner
  • , Milou Brand
  • , Ruochong Fan
  • , Andrew S. Kanter
  • , Dave Kern
  • , Septi Melisa
  • , Evan Minty
  • , Jessica Mo
  • , Bolu Oluwalade
  • , Lisa M. Schilling
  • Hayden Spence, Jacqueline C. Stocking, Linying Zhang, Patrick Ryan

Research output: Contribution to journalReview articlepeer-review

Abstract

Our study examined the heterogeneity of phenotype algorithms (PA) in literature on Alzheimer's disease (AD), major depressive disorder (MDD), and pulmonary arterial hypertension (PAI), focusing on the impact of PA differences on patient overlap and incidence rate variability across conditions in six observational databases. We reviewed 49 replicated PAs (13 for AD, 23 for MDD, and 13 for PAI) and found significant heterogeneity. These varied PAs identified distinct patient cohorts, resulting in significant incidence rate heterogeneity. Despite some papers reporting primary condition codes and inclusion. comprehensive documentation ensuring reproducibility was often lacking, underscoring the need for more transparent and robust research practices.

Original languageEnglish
Pages (from-to)1021-1029
Number of pages9
JournalAMIA ... Annual Symposium proceedings. AMIA Symposium
Volume2024
StatePublished - 2024

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