What is Pharmacogenomics? How is it used?
Pharmacogenomics, otherwise known as pharmacogenetics, is a fancy word for how medications work in our bodies based on our genetic code. Each individual person inherits half of their genes from their mother and the other half from their father. The expression of these genes makes us look like we do. From the high widow’s peak, the thinning hair, or those cute dimples, our genes play a role in everything we see and do.
What’s more interesting to me as a pharmacist, they also make us susceptible to certain disease states (yes, I’m talking to you with diabetes, the one with lupus, and the one with heart arrhythmias), and that can make for quite the sticky mess if we’re not careful. So, let’s go over pharmacogenomics and how it’s used to help us steer clear of medication disasters.
I have introduced the basic concept of pharmacogenomics, but the formal definition, according to the National Institute of Health (NIH), is a field of research studying our genetic code and our response to medications.
“Great!” you might say. “But how does this really work? In layman’s terms, for the love.”
The medical field is all a buzz over something called precision medicine. This treats people as individuals and not just a one size fits all type. Our genes are so important in this manner, and before I go any further, let’s have a brief science lesson to help explain.
Our genes, a bundle of DNA, are the mapwork of our bodies, writing instructions to build protein molecules known as enzymes. These protein molecules, or rather enzymes, tell our cells how to work. With all the different bundles of DNA, we are bound to get different enzyme variations. This affects how our bodies react to medication. Sometimes, we create fewer amounts of enzymes or the enzyme itself does not work as efficiently, and this is what can lead to disappointing results and/or life-threatening risks.
Again, this is great, but how does this affect which medication I receive?
Let’s say a family member is diagnosed with high blood pressure. What is the normal tendency of a prescribing clinician? Well, guidelines recommend a thiazide diuretic, an angiotensin-converting enzyme inhibitor (ACE Inhibitor), an angiotensin receptor blocker (ARB), or a calcium channel blocker (CCB). For time’s sake, let’s say the clinician picks an ACE inhibitor like lisinopril. Great. You go home and take it as prescribed, but then your tongue swells up, and you rush to the emergency room of a local hospital for aid.
Could this have been avoided?
With pharmacogenomics, yes.
Studies have shown a particular gene region (XPNPEP2) has been associated with the potential for angioedema. Eureka, right?
Do you see where this is going?
Pharmacogenomics can potentially prevent someone from ingesting a life-threatening medication with a simple lab test.
Isn’t that fantastic?
“Wonderful,” you say. “Sign me up.”
Wait. There is more to this story.
Can pharmacogenomics determine all our reactions to currently available medications on the market? Unfortunately, not yet, but science is getting there. For now, we can use pharmacogenomics in testing some medications used in HIV, depression, some cancers, and heart disease. While this is not ideal, the science behind it is progressing rapidly. Before long, it will catch up, and when it does, life will hopefully be better off.
So, the next time you are in the doctor’s office or at the pharmacy, ask about pharmacogenomics and how it can impact your life. Or ask me, your friendly neighborhood pharmacist.
I would love to hear from you! What are your thoughts on the matter? Is it too sci fi or right up your alley? Give me a comment, and I’ll get back to you as soon as I can.
Until next time,
Yours in health,
Dr. Kat
References:
1. “Pharmacogenomics.” National Institute of General Medical Sciences, U.S. Department of Health and Human Services, http://www.nigms.nih.gov/education/fact-sheets/Pages/pharmacogenomics.aspx. Accessed 5 Dec. 2023.
2. Roden DM;McLeod HL;Relling MV;Williams MS;Mensah GA;Peterson JF;Van Driest SL; “Pharmacogenomics.” Lancet (London, England), U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/31395440/. Accessed 5 Dec. 2023.
3. 2017 ACC/AHA/AAPA/ABC/ACPM/AGS/Apha/Ash/ASPC/NMA/PCNA Guideline for The …, http://www.ahajournals.org/doi/10.1161/HYP.0000000000000065. Accessed 5 Dec. 2023.
4. professional, Cleveland Clinic medical. “Pharmacogenomics.” Cleveland Clinic, my.clevelandclinic.org/health/articles/pharmacogenomics. Accessed 5 Dec. 2023.
Innovations Medication Management 