Making Healthcare Personalized: Pharmacogenomics

May 30, 2023

It wasn’t long ago that personalized medicine was thought of as a kind of science fiction–amazing, but unattainable. But now, it is closer to mainstream care than ever.

Pharmacogenomics is a major factor in making this possible. Here’s what you need to know:

What is pharmacogenomics?

Pharmacogenomics is the study of how someone’s genes affect how he or she responds to medications.

Understanding how a person’s genes affect medication response can help guide that person’s medication therapy in several ways. With this information, providers would already be able to know which medication may cause adverse reactions or have lower efficacy – meaning they would prescribe a higher or lower dose – and they would also be able to understand which medication alternatives might be the most effective.

This can result in significantly less trial and error in finding the right medication, navigating side effects, avoiding medication waste and, most importantly, reducing the amount of time between diagnosis and disease control. Usually, all it takes is a blood or saliva sample. And because a person’s genetics don’t change, the results can be used to guide medication decisions throughout a patient’s entire life.

What role do genes play in how someone responds to a medication?

At a very high level, once someone has taken medication, their body needs to be able to break it down and get it to the right area for it to have the desired effect – a process that can be impacted by his or her DNA.

For example, to work properly, some drugs need to attach to proteins on the surface of cells called receptors. DNA determines what type of receptors you have, how many, and even how well they work. Depending on how a drug breaks down, having a higher or lower number of certain receptors may result in a medication not working as well as it should, or not working at all. In some cases, this could also lead to increased side effects (or worse) if the drug can’t be broken down by receptors and eliminated properly.

How is pharmacogenomics used today?

Pharmacogenomic testing is already being used to gauge how patients interact with certain medications as part of the prescribing process, though it is only formally indicated to be used with a few drugs, including HIV, epilepsy, and cancer treatments. However, pharmacogenomic information is continuing to be included in clinical trial design and there are hundreds of known relationships between genes and their impact on medications, with additional research being conducted all the time. As interest rapidly grows to expand the disease states and medications that can be tested, this field is poised to take off.

What does the industry say?

Currently, much of healthcare is based around treating populations (think formularies). And while some entities, like Abarca, are working to evolve the industry towards truly personalized care, the industry at-large does not currently have the payment models, technology, or interoperability necessary to facilitate it.

So, while the benefits of pharmacogenomics are widely understood and supported, there is no clear path to making it standard care. Yet.

At Abarca, we are thrilled with the potential that pharmacogenomics has to usher in healthcare that is more personalized and effective. And we will continue to work with our partners and clients to make that a reality for everyone.


This blog was written by Timothy Mizak, Pharm.D., MS, MBA, Senior Director of Drug Trend Solutions at Abarca.


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