9.2 Pharmacogenomics Overview
Understanding Pharmacogenomics
The sequence of one’s genome can determine how they respond to certain medications? Understanding pharmacogenomics, or tailoring a person’s medications based on their genome, is only possible by sequencing the genomes of many people and comparing their responses to medicines.
Recall from pharmacology classes that in order for the human body to use some medicines properly (pharmacodynamics), the drug must be distributed to the tissues where it will exert its action and metabolized into an active form. If we want to ensure this happens, it makes sense to target the pathways of our bodies that involve changing the medicine’s form or getting medication to the right places. For example, you probably know someone who takes an antidepressant. Many of these medicines get to the right places by interacting with a protein called ABCB1, which works like a traffic cop outside your cells. In this analogy, the “traffic” is the movement of drugs into, within, and out of cells, and their distribution to target tissues. This represents the pharmacokinetics (ADME). ABCB1 is a transporter protein that regulates the flow of certain drugs across cell membranes.
Given ABCB1’s important role in controlling traffic, you might imagine that if someone has a genomic variant that changes the shape or function of their ABCB1 protein, they might have a different response than usual to any number of medicines. We now know that is the case for some antidepressants, as well as other medications like statins for cholesterol and certain chemotherapy medicines. As a result, at least 18 pharmacogenomic tests for variants in ABCB1 are listed in the NIH’s Genetic Test Registry, suggesting that you be tested for these variants to help determine the correct dose for certain medications.
Concept in Action
Concept in Action (text version)
Watch Pharmacogenomics: The Right Drug, for the Right Patient, at the Right Dose (2 mins) on YouTube for an overview of how pharmacogenomics helps to tailor drug treatments.
Watch Introduction to Pharmacogenomics (10 mins) on YouTube from the Pharmacogenomics Knowledgebase (PharmGKB), an NIH-funded resource.
Source: Created by Andrea Gretchev, CC BY-NC 4.0, except where otherwise noted
Attribution & References
Except where otherwise noted, this content is adapted from Pharmacogenomics courtsey of National Human Genome Research Institute, Public Domain with attribution. / Adapted language to nursing context, added extra video.
