There is a revolution that is underfoot that is going to change how we understand our bodies, approach our health and how medicine will be practiced.
This coming revolution is being powered by a super-convergence of technology and empowered consumers. Advances in biotechnology now allows us to sequence your genome in a few hours, analyze hundreds of proteins and metabolites from a drop of blood. We can even describe the ecology of your of poop! Coupling this with the exponential increases in computing power, data storage and wearable devices which can now measure real time physiologic variables and you have a convergence of technologies which are going to change medicine.
Precision Medicine is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyle for each person” (https://ghr.nlm.nih.gov/primer/precisionmedicine/definition). This is in contrast with the current paradigm of “one-size-fits-all approach”. We know now that every one is biochemically unique. We need to move from medicine of the average to medicine for the individual. Within each individual there are thousands of genetic and metabolic variations. We are all mutants, outliers in some aspect. This is actually good for the most part because because many of these mutations may confer some of biologic survival advantage.
“Medicine is for real people. Statistical humans are of little interest” – Dr. Roger Williams.
The molecular you is the sum total of all the molecules in your body and how they interact with each other. As we begin to map these out, we are essentially writing an operator’s manual for our body which as it turns out we never got.
The omic technologies of genomics, proteonomics, metabolomics and microbiomics are the foundations of understanding the molecular you. Genomics is the study of our DNA – our blueprint you might say. Proteonomics is the study of proteins that have been made from the translation of DNA. We can now measure hundreds of proteins at once using mass spectrometry. The complete array of proteins at a given point in time is a snapshot of how your DNA is being translated. Metabolomics is the science of the unique chemical fingerprints of cellular processes. The power is in the combination of this multi-layered data set. We have decoded the human genome a while ago now and it did not herald a massive transformation in healthcare. The reason is because the DNA is only the blueprint. It doesn’t tell us what is actually built or translated.
What is the promise of all of this information? It will tell us what diseases are you more at risk for and what we can do minimize our risk. It will tell us how to correct imbalances before they manifest into disease. It will tell us what medicines to take and which ones not to take. It will tell us what we individually should eat or not eat. It will tell us if certain lifestyle changes are changing our biochemistry or not.
Most of our current lab testing measures only a few markers that usually can only indicate disease when it is clinically evident (obvious symptoms). Most chronic diseases which represents the biggest burden of illness certainly in the developed world have a long latency period. It often takes many years from initiation of a condition before it manifests into obvious symptoms and detectable disease. For example, atherosclerosis (hardening of the arteries which leads to heart disease and stroke) starts 10 – 20 years before someone has any symptoms. The promise of molecular testing is that we can begin to detect patterns of system imbalances many years before and this will give us a head start to correct them. If we are able to correct the imbalances far enough ahead, we may be able to avert getting the disease all together. This is upstream medicine rather than downstream medicine when we treat disease at its end manifestations.
However, it is early days yet for this technology. We have much to learn about how significant a particular molecular pattern or signature might be and what specifically we can do to change it. We will need enough data from enough people to pick up the signals from the molecular noise. For diagnosis, we will need ensure that the test is sensitive and specific enough to rule in or out disease without having too many false positive or falsely negative tests that will create anxiety and unnecessary testing, interventions and possible harm.
Ultimately, the ability to understand our bodies and mind at a molecular level is going to empower us to make better and better decisions about our health than we ever have been able to until now. But the totality of a human being is much greater than the sum total of our measured molecules. So, in order for this technology to truly transform our health, we will need to be able to translate molecular data into real actionable insights and to combine this with conscious awareness and a deep understanding of our inter-connectivity.
For more information about molecular testing: