Defining a comprehensive verotype using electronic health records for personalized medicine

J Am Med Inform Assoc. 2013 Dec;20(e2):e232-8. doi: 10.1136/amiajnl-2013-001932. Epub 2013 Sep 3.

Abstract

The burgeoning adoption of electronic health records (EHR) introduces a golden opportunity for studying individual manifestations of myriad diseases, which is called 'EHR phenotyping'. In this paper, we break down this concept by: relating it to phenotype definitions from Johannsen; comparing it to cohort identification and disease subtyping; introducing a new concept called 'verotype' (Latin: vere = true, actually) to represent the 'true' population of similar patients for treatment purposes through the integration of genotype, phenotype, and disease subtype (eg, specific glucose value pattern in patients with diabetes) information; analyzing the value of the 'verotype' concept for personalized medicine; and outlining the potential for using network-based approaches to reverse engineer clinical disease subtypes.

Keywords: Electronic Health Records; Genetics; Genotype; Phenotype.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Disease / classification*
  • Disease / genetics
  • Electronic Health Records*
  • Genetic Association Studies
  • Genetic Markers
  • Humans
  • Phenotype*

Substances

  • Genetic Markers