Molecular Genetic Techniques in Biomarker Analysis Relevant for Drugs Centrally Approved in Europe

Mol Diagn Ther. 2022 Jan;26(1):89-103. doi: 10.1007/s40291-021-00567-x. Epub 2021 Dec 14.


On the basis of scientific evidence, information on the option, recommendation or requirement to test for pharmacogenetic or pharmacogenomic biomarkers is incorporated in the Summary of Product Characteristics of an increasing number of drugs in Europe. A screening of the Genetic Testing Registry (GTR) showed that a variety of molecular genetic testing methods is currently offered worldwide in testing services with regard to according drugs and biomarkers. Thereby, among the methodology indicated in the screened GTR category 'Molecular Genetics', next-generation sequencing is applied for identification of the largest proportion of evaluated biomarkers that are relevant for therapeutic management of centrally approved drugs in Europe. However, sufficient information on regulatory clearances, clinical utility, analytical and clinical validity of applied methods is rarely provided.

Publication types

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

MeSH terms

  • Biomarkers
  • Europe
  • Genetic Testing
  • Humans
  • Pharmacogenetics* / methods
  • Pharmacogenomic Testing*


  • Biomarkers