How to Define Pathogenicity, Health, and Disease?

Hum Mutat. 2017 Feb;38(2):129-136. doi: 10.1002/humu.23144. Epub 2016 Dec 6.


Scientific and clinical communities produce ever increasing amounts of data and details about health and disease. Our ability to understand and utilize this information is limited because of imprecise language and lack of well-defined concepts. This problem involves also the principal concepts of health, disease, and pathogenicity. Here, a systematic model is presented for pathogenicity, as well as for health and disease. It has three components: extent, modulation, and severity, which jointly define the continuum of pathogenicity. The model is population based, and once implemented, it can be used for numerous purposes such as diagnosis, patient stratification, prognosis, finding phenotype-genotype correlations, or explaining adverse drug reactions. The new model has several benefits including health economy by allowing evidence-based personalized/precision medicine.

Keywords: disease; disease extent; disease modulation; disease severity; health; individual variability; pathogenicity; pathogenicity model; pathogenicity zone.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computer Simulation
  • Genetic Association Studies
  • Health Status Indicators*
  • Humans
  • Models, Biological*
  • Pharmacogenetics
  • Prognosis
  • Severity of Illness Index