Topic outline

Pharmacogenetics/Pharmacogenomics

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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.

Stratified (personalised) medicine

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The European Alliance for Personalised Medicine (EAPM) defines personalised medicine as “a targeted approach to the prevention, diagnosis and treatment of disease based on an individual’s specific profile”.

Anyone new to this area should be aware that quite often the terms ‘personalised medicine’ and ‘stratified medicine’ are confused and used as if they mean the same thing. This is discussed again in the book that you can open below.

However, the two closely related terms are important in this area, ‘stratified medicine’ and ‘personalised medicine’. They are explained and discussed below.

  • Stratified medicine is the use of a medicine that targets a group or proportion of patients with a disease (a sub-population). An example could be a sub-population that are impacted by a particular disease based on age and disease stage. This is instead of using one medicine to treat all patients with this disease. Sometimes a ‘companion diagnostic’ is needed to tell if the medicine is suitable for the patient, or what dose should be used. The pharmaceutical industry is using companion diagnostics more and more in the development of new medicines.
  • Personalised medicine, on the other hand, aims to use targeted medicines that take into account other information about the individual patient. This is in order to tailor the treatment and management of the patient to his/her individual situation. Personalised medicines are used to ensure the best outcome and reduce the risk of side effects. The other information that is used might be clinical, environmental and/or lifestyle information.

Both stratified and personalised medicine can also identify people who are at risk of getting diseases in the future. This information can help finding the best preventive action to reduce the risk for these people. Some examples are:

  • Changes to diet and exercise -  to reduce the risk of heart disease.
  • Surgery - for people at high risk of breast cancer.

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

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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.

Assessment

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