Diagnosis paralysis

In the majority of cancer cases, the disease (presence of tumor) is detected at the late stage, when the treatment options are already limited. Liver and brain cancers, for example, are those that often develop with no symptoms during the major period of the disease – it can take several years, even decades, before the symptoms can be distinguishable. It is therefore quite natural to suggest that the diagnosis of cancers should evolve and allow to detect such deadly diseases earlier.

Or even predict?



The development of diagnostic biomarkers seemed very much in line with these needs (to diagnose better and earlier) and have already been on the hype list for cancer treatments. The term “biomarker” has meanwhile become a very popular buzz word. Everybody knows how it should look like and why, but not many have actually touched it.

Today, a whole new idea of biomarkers is just on the rise towards the next Big Thing in the pharmaceutical industry – we call them “probability” biomarkers. What are these? Probability biomarkers are those that can with a decent accuracy predict what disease(s) a person will get and what are the odds. If succeeded, this can be very helpful for the patient in terms of cancer (and other disease) prophylaxis and prevention.


Who can pay

“To be helpful” for a patient, however, is not always the same thing as “to be commercially profitable”. In order to attract a commercial drive within the pharmaceutical industry it is necessary to figure out how to provide market exclusivity (monopolic rights) for developers of a particular product. What is normal for new drugs (20 years of exclusivity for patented new molecules) will not necessarily work well for “probability” [or any other] biomarkers.

Another issue is that even with a perfectly well-developed and patented probability biomarker it can be really challenging to motivate a healthy person to buy an expensive test for [hundreds of] potentially irrelevant diseases. But it is challenging today, not necessarily tomorrow. Maybe the future will change our priorities faster than we think. If we take a look into the technologically not-so-distant future, it seems highly possible that “a simple” [and cheap] DNA analysis of a newborn child will be able to predict (with decently high accuracy) when and why this individual can die. Very interesting for insurance companies perhaps.


Sensitive topic

The DNA itself can be considered as a biomarker par excellence, therefore the effort of the pharma industry, health-care system and our society to understand the DNA language better has been extensive. It is most likely just a matter of time before we get there – one day the DNA-based prediction approach will dramatically change our everyday life (hopefully to the better). Certainly, some ethical and moral issues will arise, which is usual for every big biological innovation, but this will be a completely different story and probably already now very inspirational for Hollywood.


Not only the tissue issue

DNA is however much more than just a sequence of nitrogenous bases backboned with five-carbon sugars, and some phosphate group(s). There is a very specific functional “decoration” of the DNA that allows it to be recognized by an exclusively designed machinery that in turn orchestrates how our DNA behaves and when. These decorations and machinery are dependent on (sensitive to) external factors coming from outside of our bodies. These factors we usually call environment and the functional decorations together with the machinery – epigenetics. The thing is that (if you did not know) our environment is having a tremendous impact on our bodies and has also an indirect impact on our DNA. So, can a DNA sequence itself be a biomarker? Can environment be? The machinery? All together?

The success of human sequencing project has shown us how much we don’t know about our DNA. This can, however, be the beginning of a new and quite interesting journey in the mankind development and contribute positively to our battle against cancer.

[To be continued.]


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