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Pharmacogenomics - A shallow introduction
- Evan Moloseni
- Mar 7
- 3 min read
Updated: Apr 1
Many diseases are unpreventable due them either hereditary, contagious or just extremely common, and the most common solution to mitigate the risk of them is by treating them effectively with the right medications. Seems simple right? Once you get diagnosed just drink the right medications and you will be fine, right? Well not really. Our bodies are incredible complex, and some medications work better for some patients compared to others. This phenomenon is caused by the one factor that makes us all unique...our genes.
Each person genetic make-up is completely different from the rest (even their own family members) which is why it is common for common medications that might not be able to treat specific individuals. The driving factor for this result is the way your DNA responds to medication.
This example shows how statin (medication used for high cholesterol), is absorbed by a protein made by SLCO1B1 gene and gets transported to the liver to lower your cholesterol (CDC, 2024). Though, as seen in the example, some people have a variation of the gene that disallows that protein to absorb sufficient amounts of the statin, therefore making the drug inefficient. That's where it pharmacogenomics comes in to the rescue!
Pharmacogenomics is a rapidly growing medical field that focuses on understanding the effect of a person's genetic make-up on certain medications/treatments (Cleveland Clinic, 2023).
Pharmacology is an essential in treating a range of disorders such as sickle cell anemia, Huntington's disease and cystic fibrosis. Many of these disorders are often considered fatal when left due to the adversely negative effects they can cause to their victims.
For example, let's look at cystic fibrosis. Cystic fibrosis is caused by the deactivation of a channel protein (CFTR protein), thus restricting vital molecules from accessing the cell.
Though a common medication Ivacaftor is used to force this channel open, curing most people who suffer from cystic fibrosis. Though a few people have a mutation of the gene that creates CFTR protein, that basically deactivates, causing to channel protein to be present (CDC, 2024).
So we will need pharmacogenomics to intervene.
How does it work?
As stated before, pharmacogenomics is tailored for a specfic-type of patient because the contraventions often target the underlying issue than the disease itself (CDC, 2024).
So we split the response of the drug into sub-categories: Pharmacodynamics and pharmacokinetics.
Pharmacokinetics: Some gene mutation affect the way drugs are absorbed, distributed, metabolised or excreted (Rollinson et al., 2017).
Pharmacodynamics: These have less direct effects, these mainly talk about how other mechanisms interact with a drug, such as enzymes.
So to combat this doctors either modify the dosage of the medication, run more genetic tests to identify any other potential medications that can be help the root issue (e.g administer a medication that will take place of an enzyme that is missing your body). On the other hand this type of medical therapy comes with many downsides including: costs, limited knowledge and awareness and privacy concerns (Dhounchak, 2025).
An example of this is the use of 6-mercaptopurine, a drug that is used to treat leukemia, like all the other examples, most patients are able to metabolise it quickly (through an enzyme called thiopurine methyl transferase) inducing a positive effect. Though a very small percentage of individuals have a mutation in the TPMT gene that reduces the efficiency of metabolising this drug, causing it to be ineffective (March, 2000). So doctors run blood tests to confirm this and modify the doses to suit the individual (simple right?).
As pharmacogenomics continues to grow, our world will hopefully move to a future where you can get administered medication that will serve optimally for your condition and your body.
References
CDC. (2024, December 2). Pharmacogenomics. Genomics and Your Health. https://www.cdc.gov/genomics-and-health/pharmacogenomics/index.html
Cleveland Clinic. (2023, October 4). Pharmacogenomics. Cleveland Clinic. https://my.clevelandclinic.org/health/articles/pharmacogenomics
Dhounchak, R. (2025, March 6). Understanding the Role of Pharmacogenomics in Personalized Medicine – Blog. Geetauniversity.edu.in.
Drugs.com. (2025, February 9). Cystic Fibrosis - What You Need to Know. Drugs.com. https://www.drugs.com/cg/cystic-fibrosis.html
March, R. (2000). Pharmacogenomics: The Genomics of Drug Response. Yeast, 1(1), 16–21. https://doi.org/10.1155/2000/524865
Rollinson, V., Turner, R. M., & Rollinson, M. P. author V. (2017, October 11). Pharmacogenomics: an overview. The Pharmaceutical Journal. https://pharmaceutical-journal.com/article/ld/pharmacogenomics-an-overview
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