A cautionary note on the evaluation of biomarkers of subtypes of a single disease

Am J Epidemiol. 2008 Sep 15;168(6):559-62. doi: 10.1093/aje/kwn183. Epub 2008 Jul 15.

Abstract

Heterogeneity in the molecular characteristics of a disease presents a challenge to investigators attempting to identify biomarkers of the disease. Preceding the biomarker discovery effort with stratification within a heterogeneous disease group, which amounts to grouping disease cases into more homogeneous subtypes, seems to be a natural strategy for discovering subtype-specific biomarkers. This is because biologically more homogeneous subgroups are presumably easier to distinguish from the nondiseased than the entire heterogeneous disease group. The misleading benefits of this two-step approach are illustrated using an example from a protein biomarker discovery project for breast cancer. A potential analytical pitfall in this framework is explained using a conditional probability argument.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / blood*
  • Biomarkers, Tumor / classification*
  • Breast Neoplasms / blood*
  • Breast Neoplasms / classification
  • Cohort Studies
  • Humans
  • Sensitivity and Specificity*
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization*

Substances

  • Biomarkers, Tumor