“Precision medicine” – the future of medicine or an illusion?
High stakes, puzzling terminology and controversy.
These are the main reasons why we keep seeing more studies, reflections and posts about precision medicine in leading medical journals.
It seems like everyone has something to say about this topic, and it’s fair to say that they do have some valid arguments.
Optimists and pessimists alike.
Probably the main reason for this precision medicine hype is the “Precision Medicine Initiative” project, sponsored by the U.S. president himself.
Large number of public and private health organizations joined aforementioned initiative led by the “NIH”. One of their goals is to include 1 million of patients (volunteers) in their research program in order to collect as much medical data as possible.
They hope this data will help them develop “precise” therapies, resulting in best possible solution for every patient.
But, is this hype good for healthcare?
There’s a lot of concern about precision medicine taking focus off of current issues in healthcare. And they may be right.
Yet, first thing first…
What is precision medicine?
We define precision medicine as treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic, or psychosocial characteristics that distinguish a given patient from other patients with similar clinical presentations.
The goal of this approach is to improve clinical outcomes for individual patients and minimizing unnecessary side effects for those less likely to have a response to a certain treatment.
It sounds like something doctors have been doing all this time, right?
Exactly, it’s just that this kind of an approach goes beyond the traditional disease classification and prescribing medications based on diagnosis.
You might ask yourself: “Well, then what’s so novel about it”?
The answer lies in new, more advanced diagnostic devices, ability to examine patient’s genetic profile and his entire health records, which earlier wasn’t possible.
So, is precision medicine actually personalized medicine?
If you were wondering the same thing, you were right to do so.
Let’s try to sort this out.
Personalized medicine is a term that has been widely used for quite a while now, and it gained relevance as the Human Genome Project announced they managed to sequence the human genome in 2001.
Back then, the general opinion was that having the insight into genetic profile will get us into a position where we’ll simply “design” personalized medications and treatments for every individual.
Undoubtedly, some advancements were made, but the fact is that they’re far less than we hoped for.
Committee of the U.S. National Research Center offered a definition that explains the difference between precision and personalized medicine:
“Precision medicine refers to the tailoring of medical treatment to the individual characteristics of each patient. It does not literally mean the creation of drugs or medical devices that are unique to a patient, but rather the ability to classify individuals into subpopulations that differ in their susceptibility to a particular disease or their response to a specific treatment.”
As we can see, the goal of precision medicine is to offer a framework for advanced research. The focus shifts from the individual patient to smaller subpopulation groups that share the same characteristics.
By analyzing and designing solutions for population groups, we should be able to more “precisely” help patients that share similar human GIS (characteristics on all “omic” levels).
Nevertheless, I have to say that some doctors and researchers, in their papers as well as in everyday communication, still use both terms interchangeably.
On the other hand, some of them strongly advocate a strict distinction between precision and personalized medicine.
Can we see any real effects of precision medicine today?
Even though it may seem as just another fancy theory, precision medicine is actually much more than that.
Precision medicine is effectively helping in the war against cancer, diabetes type 2, as well as in treating rare diseases.
As an example, we’ll mention ivacaftor – a new drug that significantly eases symptoms for patients with cystic fibrosis.
The thing that makes this drug special is that it was designed to help a small and very specific subset of patients with cystic fibrosis.
Genetic testing can reveal which individuals are eligible for this treatment.
In the meantime, opponents of precision medicine will use the example of ivacaftor as well. For them, it’s just another obvious flaw of precision medicine.
It actually took decades to develop this drug, costs $300,000 a year per patient, and is practically useless in the 95% of patients whose mutations are different from the ones that ivacaftor acts on.
The same applies to almost every example of precision medicine you can find out there.
The question is, for how long will these results justify the enormous funding and attention directed towards precision medicine in the past few years.
Precision medicine certainly sounds like a positive thing. It promises designing the right drugs for the right patients, at the right time.
And it’s all based on the genetic diversity of each individual.
But, as we saw, it has its supporters and opponents.
Both of them agree that the challenges and goals of precision medicine are massive. Bigger than anything we have today.
Also, I’m pretty sure they all agree that precision medicine is great as a research enterprise where scientists learn more every day about different factors producing disease in individuals.
Regardless of the critics and maybe just “ok” results, precision medicine still deserves our support.
In my opinion, it’s the future of medicine.
Still, for its significant effects and leading role in much-needed reform of medicine, seems like we’ll just have to wait…