Genomics and Precision Medicine for Clinicians and Scientists in Hypertension
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In 1903, Sir William Osler wrote “the good physician treats the disease; the great physician treats the patient who has the disease.” These words ring very true in 2016 as we approach the era of precision or stratified medicine. The precision or stratified medicine (we are going to use these terms interchangeably) is based on identifying subgroups of patients with distinct mechanisms of disease and particular responses to treatments. This allows us to identify and develop treatments that are effective for particular groups of patients. Ultimately, precision medicine will ensure that the right patient gets the right treatment at the right time. The above definition broadly follows suggested definition published by the UK Medical Research Council (http://www.mrc.ac.uk/research/initiatives/stratified-medicine/). We can therefore summarize the promise of precision medicine as being able to remove nonresponders and toxic responders before prescribing medication and to treat with a given drug only responders and patients not predisposed to toxicity.
Such approaches are very well developed in cancer medicine with several examples of successful precision medicine applications in breast, prostate, ovarian, colon, and pancreatic cancer,1–6 and this list is by no means complete. Cardiovascular medicine in general and hypertension in particular both lag behind oncology in this respect.
However, there are examples from rare monogenic syndromes, where a single genetic mutation explains the entire pathophysiology of severe, early onset hypertension and dictating perfect pharmacogenetics-led prescription.7,8 These syndromes include the Glucocorticoid Remediable Aldosteronism, Liddle Syndrome, and pseudohypoaldosteronism type II to name just a few. In these syndromes, glucocorticoids, amiloride, and thiazide diuretics, …