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.