A step towards the medicine of the future: personalized treatments based on your genetic information – Michelle Rojas Romero

By studying existing variations in the genome between individuals and populations (genotyping), personalized medicine allows us to prescribe, adjust and/or withdraw a specific drug for a disease that a

particular patient is suffering. This should cause the patient to respond appropriately and improve their quality of life. In recent decades, the number of patients suffering from autoimmune diseases has increased. These are a varied group of diseases that share a common characteristic, namely that they cause the patient’s immune system to produce antibodies, which act erroneously against their cells and tissues.

One of the main drugs used to treat this type of disease is azathioprine (an immunosuppressive drug). Its metabolism involves an enzyme known as thiopurine methyl transferase (TPMT). The gene encoding this enzyme has been shown to be associated with patient response to azathioprine.

Different pharmacogenetic guides make different recommendations depending on the patient’s genetic characteristics. These include, for example, increasing or decreasing the dose depending on the variations that may appear in the gene encoding TPMT. Conducting a genetic study prior to taking azathioprine can therefore help adjust the dose according to the TPMT activity of each patient, thus reducing the occurrence of adverse reactions.

The aim of this study is to assess the degree of implementation of this genetic test in routine clinical practice in our population, and to study the differences in this gene between our population and other reference populations.

Keywords: pharmacogenetics, azathioprine, systemic diseases

Directed by: Emilio Fernández Varón