Jeffrey Bland, PhD, argues that modern science is shifting away from disease-labeling toward understanding the networked causes of ill health — how genetic susceptibilities interact with lifestyle and environmental factors to determine resilience or disease. He cites multiple 2015 Cell papers (including one titled “Natural variation in gene expression modulates the severity of mutant phenotypes”) showing that gene expression and interacting gene networks, modulated by environment and lifestyle, control whether risk genes produce disease. Bland frames this as a paradigm shift that changes clinical dialogue from labeling to investigating underlying network perturbations.
Questions this video answers
2014
Cell (2015)
"Natural variation in gene expression modulates the severity of mutant phenotypes"
Chapters
So in 2014 I proposed in the Disease Delusion a fairly remarkable concept in the minds of some that a focus on what we call something in a person who doesn't feel well is not as important as where it came from. Meaning the term disease is a little misleading because it suggests once we name something and put that label on a person that we understand everything about it. And that individual. Well, that might have seemed like a very controversial point in 2014, but I'm very amazed in 2015 as we see this extraordinary evolution that's occurring in health sciences, that this concept is not so remarkable at all. Let me share some ideas as to why. So the first article is one that talks about the convergence of systems approaches to complex trait analysis, in which, in this article that appeared in the journal Cell in 2015, the authors talk about the fact that if you're trying to really define the nature of the etiology, meaning the cause of a person's feeling unwell or diseased, sick, that you have to dig deeper than just the name of the condition and applying a specific definition, you have to look at the web of interacting variables, the network of, of traits that characterize the appearance of those particular symptoms. So you have to look at genetic background, you have to look at lifestyle habits, you have to look at environmental factors. These types of things give a much broader perspective as to the individual state of that person. Well, that's a little bit consistent then with what we talk about the disease delusion. Then to follow on is a more recent paper that appeared again in the journal Cell, a premiere high profile journal in the advancing of the science of biology, in which the title of this is Natural variation in gene expression modulates the severity of mutant phenotypes. Now what does that mean? You recall that we all carry genes that may give rise to the risk of certain diseases. Every person has those, some more severe than others, some are more penetrant in terms of the expression into their phenotype, how they look, act and feel. But all of us have these genetic kind of soft spots or susceptibility factors. Why then do they not always appear in the individual as that disease? This has to do with resilience. And what have they talked about in this article? They've shown through some extraordinary good biology that in fact these risk genes are kept suppressed by a portfolio of other genes that work to keep them not expressed into the phenotype. Meaning it's the system itself, more than a risk gene, that determines whether that person will in fact have a disease or not. Now why Is that important? That's important because we now know that lifestyle, diet, exercise, stress, environmental factors influence the expression of these patterns of genes that then can either augment or express these characteristics that we call disease in an individual, or can suppress and attenuate silence, those characteristics. Therefore, it's not the genes in and of themselves that causes the disease, it's the environment that creates the disturbance of metabolism that we later then call a disease process. And then the last paper in this series is one that talks about network perturbations. That the only way that we can really understand why a person doesn't feel well is not by just defining the disease, but looking at the perturbations on the network of their biology. In other words, all the factors that contribute to either pluses and minus, puts or takes, the imbalances that cause dysregulated endocrine system, immune function, detoxification, vascular effects, hematological or endocrine effects, those particular, much broader thing that we call the fundamental processes in functional medicine are what really determine health and disease. So what does this all mean? In summary, it means that we are witnessing the step across the threshold right now, a threshold in which the sineoquanon was disease, defining the disease and putting a label on a person to this new era in which it's asking the right questions, the broader, deeper questions as to how the genes and the environment interact to create a network of expression of either resilience or unwellness, that to me, opens up the dialogue between the patient and the practitioner in ways that are extraordinarily different than just trying to define the disease and then the remedial process to treat the symptoms of that disease. Stay tuned. This is the change in the guard.
