Definition of Precision Medicine
What is precision medicine? No standard definition is found. Sometimes described as High Definition Medicine which is: “the dynamic assessment , management, and understanding of an individual’s healthmeasured at (or near) its most basic units.”11 The impetus for this venture was advanced and stimulated by biogenetics, the study of how genes and their products affect health but also contribute to disease or resistance to cure. Medicine is an epistemology: a way of knowing, perceiving, remembering, finding out, proving, inferring, wondering, reflecting, a conceptual knowing relying upon observationsfitted to disease concepts.
While precision medicine relies upon a mechanistic classification of disease based on biogenetics. Medical reductionism captures the sense in which precise measurements are construed as the conceptual basis of medical practice. This in turn relies upon artificial intelligence and so-called machine learning.22
We stipulate what a disease consists of by our sensory observations and intuit a concept. Immanuel Kant in the Critique of Pure Reason argued that
a priori synthetic judgments were necessary in order to understand all sensation. This type of judgment is independent of all other faculties.
Viral infections fall into a concept, as does autoimmune disease. The only advantage precision medicine offers is to turn these sensory level observations (e.g. an RNA polymerase that does not function correctly thereby preventing DNA messages to be transcribed) over to artificial intelligence and machine learning to describe, or discriminate, a pattern, a concept, in short, to create a new classification of disease, so-called online learning similar to what sellers on the internet do to make offers relevant to consumers.
But DNA is a completely passive biologic molecule and further measurement would only modify our concept of disease; we would require a polymerase to activate DNA. DNA acts only when it is signaled by theentire organism to produce RNA’s which in turn form templates for the production of proteins. And less than 5% of DNA is able to participate in coding for protein production. Even if I knew what introns did, I could not use this information. Only coding and transmission via mRNA promotes life. DNA cannot be transmitted faithfully unless corrected by the entire organism. So there is nothing new under the genome! The ramifications would rely on ‘deep’ and exhaustive searching of the genome of which I know something, but not all functionality.
Keith Yamamoto coined the term precision medicine in 2010 as a broad concept in order to integrate rational, Data-driven mechanism-based health-care. So this new concept of molecular medicine would utilize the evolving collections of big-data, by employing artificial intelligence and machine-learning. Similar to face-recognition programs? Big data would be treated as possibly linking all similar data to machine learning then to disease classification, diagnosis and treatment? Is this feasible? No, because diseases evolve: what today represents population-based data will change as diseases change. See discussion below.
Moreover precision medicine relies upon big data and a form of ‘digital health’ as described by complex systems captured in machine learning. The definition of ‘precision’ is a deterministic approach to knowledge; not probabilistic, as in traditional medicine. Precision medicine is the aggregated collection, interpretation, and application of data to define all disease. But precision medicine is only a recent ambiguous name for improved diagnosis and treatment e.g. imaging developments CT with contrast, MRI, allow for more accurate staging of tumors; this might be thought of as precision medicine. By these methods we observe entities that heretofore were not seen. We observe what Galileo’s telescope offered to churchmen.
Diseases evolve so population data changes:
Only biologic entities evolve. Traditionally we define a disease as a natural kind based on the probability of correct diagnosis (category) and cure when properly classified, staged and treated; a disease evolves even during treatment. Disease is a living entity that sometimes resists intervention: the purpose of clinical trials is to allow inductive inferences in order to classify and identify the disease that resists treatment and continues to live. (precision medicine may fill a role here only if it provides insight into the traditional categories of disease.). If disease were not a natural kind i.e. aberrations within a biological system, mimics of closely related diseases e.g. type 2 diabetes mellitus vs. insulin dependent diabetes, then these would be entities sui generis, a part of the world of organisms (a category, vegetable, animal). Our disease classification permits us to make inductions about what disease and what treatment. Not all diseases fit easily under one classification e.g. are prion diseases classified as infectious. The only possible contribution that precision medicine may contribute is increased specificity.