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8 minutes read

Pharmacogenetic Testing: A MedTech Innovation

By Robert Kazmi
woman staring through microscope
By Robert Kazmi
8 minutes read

We are still learning a lot about genetics and how our bodies work in different ways. Pharmacogenetic testing is helping medical researchers, drug manufacturers, and others in the MedTech sector create better pharmaceutical products and deliver better care to patients. 

Everybody has a unique genetic makeup. Modern medical research leads scientists to believe that our unique genetic codes play the largest role in our body’s response to drug therapies. They now believe that genetics has a larger influence than diet, overall health, and the environment regarding our physical response to medications. This puts a premium on pharmacogenomic testing. 

While pharmacogenomic testing has really accelerated in recent years, surprisingly, this is not a new idea. In fact, back in 1957, a geneticist named Arno Mutulsky linked specific liver enzymes with the adverse drug reactions to a combination of an antimalarial drug Primaquine and a muscle relaxant Suxamethonium Chloride. 

Others argue that the famed Greek Pythagoras was the first to link genetics and the way our bodies react to certain things. In 510 B.C., Pythagoras linked the fava bean to the development of hemolytic anemia in some people. 

Modern science and pharmacogenomic testing would eventually prove Pythagoras right. Some people lack an enzyme in their genetic code that is responsible for the stability of the red blood cell membrane. The consumption of fava beans exaggerates this deficiency. 

So what exactly is pharmacogenetics? How does this testing work, and why is it so important to modern medicine? Let’s explore this interesting genetic testing topic in greater detail and see the potential role MedTech apps can play.

What is Pharmacogenetics?

Pharmacogenetics is the study of the genetic variations that cause individual responses to medications. Enzymes, proteins, drug targets, and the individual genes responsible for these aspects of the human body are all studied in pharmacogenetics. 

Researchers also have to account for the ways drugs interact with one another and the effect that different combinations can have on the individual’s body. Obviously, this field of study and treatment requires the gathering and analysis of big data

Pharmacogenetic testing is how researchers and doctors gather the genetic information that they need in order to make important decisions regarding medication prescription, dosage, and more. Pharmacogenetic tests might not be able to say for certain if medications will work for a particular patient, but they can highlight potential issues that a patient might have with medications.

This is an important field of modern medicine. MedTech apps have a real opportunity to provide valuable services for medical providers and patients alike, especially patients who need to take multiple medications at once. 

How Does Pharmacogenetic Testing Work?

Of the more than 20,000 genes that are present in each of our bodies, medical scientists performing pharmacogenetic tests focus on the Cytochrome P450 family of genes. There are more than 50 genes in the Cytochrome P450 family that produce the enzymes that our bodies need to process and metabolize medication.

There are other enzymes outside of the Cytochrome P450 family that also work to metabolize medications, but the majority of enzymes that work in this capacity are found in the Cytochrome P450 family in the liver. 

Doctors and medical researchers use genetic tests to look at a patient’s Cytochrome P450 producing genes and the enzymes themselves. When they perform these genetic tests, they are looking at the genes and the enzymes to find polymorphisms. Polymorphisms are common genetic variations that can affect how enzymes function. 

For example, enzymes that metabolize a medication slowly leave active medication in the body for longer. Conversely, enzymes that metabolize medication quickly leave active medication in the body for a shorter amount of time. The genetic variation of enzymes are broken down into four broad categories based on their ability to metabolize medication:

  • Poor 
  • Intermediate 
  • Normal
  • Rapid


Medication is broken down slowly by the body compared to the normal rate of metabolism. Likely the standard dose for a particular medication is too much for poor metabolizers. The side effects listed for standard dosage may be more intense or extreme in these circumstances. 


Medication is still broken down more slowly than normal. There is still a chance that the standard dose for a medication could be too much, which can cause more adverse drug reactions and more intense side effects.


Medication is broken down in an expected manner, and standard doses should be proper with minimal side effects or adverse drug reactions. 


Medication is broken down too quickly. In these situations, you may not have enough medication in your body to experience relief or get the appropriate treatment. Rapid metabolizers may have to take higher doses of a medication to get the same effect as a normal metabolizer. 

What makes the field of pharmacogenetics so interesting and difficult is that a patient may be a poor metabolizer for one type of medication but also a rapid metabolizer for a different medication. There is an opportunity for MedTech and HiTech apps to play an important role in helping patients and medical professionals track medications, symptoms, drug interactions, reactions, and more. 

Why is Pharmacogenetic Testing so Important? 

The current approach to medication in most cases is one-size-fits-all. Dosing instructions may vary based on age, weight, sex, etc., but even these variations are standardized. The medical community knows full well that each individual will react differently to medication based on their genetic composition, but in the overwhelming majority of cases, pharmacogenetic testing is not done until a patient has had an adverse drug reaction. 

Pharmacogenetic tests have the ability to save lives and provide patients with care that is tailored to their exact genetic composition. While the possibilities and the future potential of tailoring medications to the individual are staggering and would change the way we provide medical treatment forever, today, pharmacogenetic testing is only used preemptively in a few situations.  

Pharmacogenetic tests are currently being done preemptively with the following medications; in some cases, these tests are only available to certain ethnic groups:

  • Warfarin 
  • Clopidogrel 
  • Irinotecan 
  • Abacavir
  • Tamoxifen 
  • Methylphenidate 
  • Opioids 
  • SSRIs
  • Some antidepressants 
  • Some antipsychotics 

As you can see, the list of medications that doctors currently perform preemptive genetic testing for is very small. Pharmacogenetic tests could be useful in almost all situations that require a patient to take medication or a combination of medications. 

Genetic testing is getting cheaper to perform, and the associated technology is becoming more ubiquitous. This is a hopeful sign for the future of preemptive genetic testing. In the not too distant future, it is likely that pharmacogenetic testing will be used to individually tailor all medications to the patient. This would be a huge development in the way we administer health care and would lead to better results from drug therapies too. 

Pharmacogenetic testing helps save lives, reduces the impact of adverse drug reactions, and helps provide better care for patients who require drug therapy. Even though these genetic tests are not as widely used today as they will be in the future, they still play an important role in modern medicine. 

The Role of MedTech Apps in Pharmacogenetics 

MedTech apps have a lot of potential to provide valuable services in the field of pharmacogenetics. MedTech app development projects could focus on creating platforms that help patients and doctors track medications currently being used, make notes about how those medications are working and making patients feel, which medications are metabolized quickly, slowly, or normally, and how medications are interacting with one another. 

Pharmacogenetic testing is a MedTech advancement that will only continue to get more use as genetic tests get more affordable and easy to run. Now is the time for a MedTech app developer to be a first mover in the industry. Right now, there is little competition, and advancements in genetics like Crisper are making genetic testing more accessible than ever before. 

One day, a MedTech app might even be capable of allowing users to test themselves and place orders for highly personalized medications based on their genetic test results. 

Final Thoughts 

Pharmacogenetic testing is an exciting advancement in pharmaceutical treatment. However, this technology is only being used to preemptively test in select situations. The one area for concern is that most people won’t be able to get a pharmacogenetic test until they have an adverse drug reaction.

Still, this technology has the ability to save lives and improve the efficacy of drug therapies. The future of MedTech apps that operate in the pharmacogenetic field is very bright. There are a lot of potential innovations waiting to happen in this field. If you have an idea for an app but you don’t know how to go about bringing it into reality, speak with an app development partner

An experienced development partner can help you translate your innovative idea into a fully functioning application using industry experience and technical expertise.

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