PGx and its importance to our future healthcare
Any opportunity we have to be able to provide medical advances that help to streamline the process of diagnoses through treatment and recovery is something that we need to seriously consider. One of those areas that are continuing to make strides is the field of Pharmacogenomics or PGx. As we understand our genetics better, this field shows increasing promise, and it currently uses applications that can help us live healthier and longer lives.
Its history can be dated all the way back to thousands of years ago when Pythagoras himself made some observations that would lead to modern-day PGx.
What is PGx?
In short, Pharmacogenomics is a field of study showing how a person would respond to a drug treatment based on their genetics. It is the combination of pharmacology (the science of drugs) alongside genomics (the study of genes and their functions).1 The idea behind it is to utilize an individual's genetics to help develop a more curated treatment plan for each patient. It was first coined in 1959 by geneticist Dr. Friedrich Vogel.2 Our current methodology for treating patients can be better and typically can have too many side effects. By pushing forward the study of how genes will ultimately affect a person's response to treatment, it will eventually help us to eliminate side effects altogether.
The term pharmacogenetics was first identified in 1959 by German geneticist Friedrich Vogel and since then has gained research attention in the field of genomic medicine within the last few decades. The terms pharmacogenetics and pharmacogenomics are basically interchangeable. By studying pharmacogenomics, the target of scientists is to identify the influence of patients' genetic variations when responding to drugs. Then when they have established this, to use this knowledge to create optimal therapeutic treatments in relation to the unique genomic profile of an individual.
Additionally among a variety of individuals, other factors such as sex, organ function, lifestyle, and environment can all in theory explain the different drug outcomes among patients. It's not just about that curated approach but also ensuring that we don't accidentally poison patients with either too many drugs or drugs that end up having an adverse reaction as well.
It's quite a meticulous science to be researching as there are so many variations of possible DNA sequencing that more effort must be put into it. Currently, most variations come from something called single nucleotide polymorphisms (SNP).3 There are currently 11 million in the population, and there is one in every 1,300 base pairs. These are important because they help become the most common 'markers' since they are found so frequently and are the basis of PGx.
What does PGx offer doctors?
The major issue that happens with doctors is when they finish their diagnosis and want to be able to look into a treatment plan with pharmaceuticals, they are typically built in a broad spectrum mentality. That means that the medication should work. On the other hand, any doctor doesn't like to work in these types of conditions where it's about the probability of curing a patient versus activating a potentially harmful side effect.
So, streamlining the testing process and having these genetic markers identified before the diagnosis helps doctors prescribe more effective therapeutic medication that will make the patient not come back as often and have a better quality of life and overall well-being. Without the need for a doctor to be so concerned about side effects because of these genetic markers, it also helps them to be able to handle more patients faster and have their own well-being in good condition as the science is helping to alleviate them for thinking they are second guessing.
Overall this will help to reduce already taxed medical systems worldwide, as doctors and their support staff will work efficiently and with better positive results.
What does PGx offer patients?
It offers a level of safety unprecedented before. Instead of being stuck with a one-size-for-everyone mentality regarding medical treatment, PGx helps build a safe solution specifically for you, the patient. For example, there are still several treatments out there that are life-saving but can also be life-threatening, such as Warfarin sensitivity 4 Warfarin is a blood thinner that's a critical treatment to prevent blood clots. Yet because of a genetic predisposition, tens of thousands of people are still at risk of hemorrhaging, and all of this was discovered when studying the CYP2C9 alleles and relevant variants.
There is more being discovered the more research that is done in this field. For example, those with the CYP2C19 5 gene have a genetic resistance to Clopidogrel, another medicine used to prevent blood clots, combat heart disease, and prevent a stroke. Yet those with that resistance have a hard time metabolizing it, which occurs much more frequently and cannot activate the medicine.
The ability to eliminate fear when it comes to therapies and taking medicine to help oneself only helps them recover further due to their more positive mindset. This is taking us where doctor visits won't be about explaining what adverse drug effects may happen but can be expedited, so you know what won't happen.
What does the future of PGx hold?
While this may seem like science fiction, more and more of the population is willing to explore their DNA as they see the many health benefits that can come from it. Already there are private companies that collect DNA to either promote the discovery of ancestry or discovery specifically related to genetics and how they affect your health. It is helping people become more mindful and aware of any predispositions they may have, and that also helps the overall global population have a healthier mindset.
By having more people know how their body works, they'll take better preventative care and actions to ensure their overall health. PGx will only help to enhance that further because as we work towards fewer people getting sick, anytime someone does, there could be a future where the right medicine is made on the spot, specifically to handle the affected person, eliminating the need for guesswork.
The FDA itself is already working on putting biomarkers on drug labeling 6, and that list is only going to continue to grow. Nevertheless, it's going in the right direction, and having such a highly detailed and strict government organization provide a bit of buy-in with PGx only helps bring the mission forward even more.
This doesn't eliminate or replace any industries, such as the pharmaceutical industry, but it does push them to explore a more personalized and curated approach to researching and producing medicines and cures for people. The more efforts put into the industry and infrastructure today will only help their bottom lines even further down the line when they figure out the logistics of this type of personalized distribution of medicine instead of their existing mass production model.
References:
1 Pharmacogenomics: The Right Drug to the Right Person
2 Single Nucleotide Polymorphisms and Applications
3 Integrating Pharmacogenomics Into Treatments: Rationales, Current Challenges, and Future Directions
6 Table of Pharmacogenomic Biomarkers in Drug Labeling