Phenotypic and genetic classification of diabetes

Diabetologia. 2022 Nov;65(11):1758-1769. doi: 10.1007/s00125-022-05769-4. Epub 2022 Aug 12.

Abstract

The historical subclassification of diabetes into predominantly types 1 and 2 is well appreciated to inadequately capture the heterogeneity seen in patient presentations, disease course, response to therapy and disease complications. This review summarises proposed data-driven approaches to further refine diabetes subtypes using clinical phenotypes and/or genetic information. We highlight the benefits as well as the limitations of these subclassification schemas, including practical barriers to their implementation that would need to be overcome before incorporation into clinical practice.

Keywords: Cluster analysis; Disease subtypes; Genetics; MODY; Personalised medicine; Polygenic score; Precision medicine; Review; Type 1 diabetes; Type 2 diabetes.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diabetes Mellitus, Type 2* / genetics
  • Humans
  • Phenotype
  • Precision Medicine