Topic outline

  • Pharmacogenetics/Pharmacogenomics

    Different organisations and authors use different definitions of the terms ‘pharmacogenetics’ and ‘pharmacogenomics’.

    A common way of thinking about these terms is:

    • Pharmacogenetics is the study of how people’s individual genes affect their responses to medicines.
    • Pharmacogenomics is the study of how the whole genome affects the response to medicines. The genome is the complete set of genes or genetic material present in a cell or organism.

    However, the European Medicines Agency (EMA) has its own definitions. These are different to those given above:

    • Pharmacogenetics is a subset of pharmacogenomics and is the study of variations in DNA sequence as related to medicine response. In other words, only DNA is measured (not RNA). Variations in DNA between people are linked to how differently people respond to medicines.
    • Pharmacogenomics is the study of variations of DNA and RNA as related to medicine response. In other words, both DNA and RNA are measured. Variations in these measurements between people are linked to how differently people respond to medicines.

    The difference in how the terms are defined can cause confusion, and needs to be kept in mind when reading new information you might find on these topics. EUPATI uses the EMA definitions.

  • Overview of techniques involved (e.g. 'omics')

    For stratified and personalised medicine to develop, we need to understand the underlying biology of health, disease and response to treatment. They can improve the efficiency of clinical trials and offer potential new targets for new medicines.

    Biomarkers are indicators of normal or disease processes in the body that can be measured. This might include an individual’s response to a medicine.

    Progress in this area helps develop new targeted treatments and tests that can predict the risk and/or course of disease.