1. General Concepts

(This section is organised in the form of a book, please follow the blue arrows to navigate through the book or by following the navigation panel on the right side of the page.)

If we understand how variations in DNA and/or RNA between people affect how they respond to medicines, we can use this information to make treatment decisions.

Patients with the same disease can be separated into ‘sub-groups’ depending on their DNA and/or RNA. This can help doctors decide which medicine, and which dose, are likely to be most safe and effective for that individual.

This should also help doctors improve patient outcomes and reduce adverse side effects (adverse drug reactions, ADRs).

Much effort is put into research in this area with input from scientists in academia (universities) and in pharmaceutical companies. One example of this is ‘OncoTrack’. This project is looking at new approaches to help find new biomarkers for colon cancer.

There is a lot of discussion on ethical issues involved in pharmacogenomics, including:

See section below in this topic.

Gene expression

Gene expression measurements describe the level at which a gene is expressed (or present). For example, you can measure the expression of something called an ‘oncogene’. This can help researchers find out how likely an individual is to get cancer.

These measurements can be done with the final gene product, such as proteins. However, it is often easier to measure the ‘pre-cursors’, usually RNA. From that, you can then infer the level of gene expression. Gene expression measurements are included in the EMA definition of pharmacogenomics.