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What is Personalised Medicine?

A man in his early fifties with hypertension appears at your office for review. He insists that he has been taking his medication as prescribed, but his blood pressure is still way above target. He has just spent the past few weeks on an expensive medication that has done effectively nothing for him. This scenario is all too common in practice. While there are plenty of protocols in place to change his antihypertensive regimen, once we know that it is ineffective, there is very little information on how to avoid the situation entirely. 

Why should he be subjected to the risk of drug side-effects and untreated hypertension if his response could be predicted by a saliva sample?

Current medical guidelines are often based on old models of practice. Back in the 20th century, there was simply no way of knowing how a patient would respond to treatment before the first dose had been given. This lead to practices that were fundamentally reactive rather than proactive. Drugs are supported by guidelines based on large clinical trials to effectively treat the largest number of people possible. However, due to time, cost, and emerging technologies, patients with specific genetic traits that would change their response to treatment, often find themselves outliers in these studies. With the advent of personalised medicine, this no longer needs to be the case. A quick genetic screen could highlight potentially ineffective medications without exposing the patient to danger.

The genetic basis of many diseases and testing for them has been a part of standard practice for decades. Testing for specific mutations was often time-consuming and specific to the suspected diagnosis. However, new research and methods are changing that. Current screening technologies allow a vast array of known polymorphisms to be screened en masse. Now a simple test can reveal a NOS1AP polymorphism, making a calcium channel blocker you were going to prescribe arrhythmogenic. 

Perhaps there is an ADRB1 polymorphism that could double the efficacy of a beta-blocker. A whole report can be compiled on mutations that affect the pathophysiology of disease and the pharmacodynamics of treatment. Rather than trial and error medications, a personalised therapy can be selected without wasting time and risking unnecessary side effects. This means more time spent on effective therapy, better anticipation of potential risk factors, and improved outcomes overall.

Personalised medicine gives us a chance to be proactive in our prescribing. Therapies can be selected based on a patient-specific genetic and clinical profile rather than broad epidemiological trends. Most importantly, the tools to put this into practice are available now. 

Research is pumping out of journals like Nature Genetics and The Journal of Internal Medicine on the benefits of personalised medicine. Genetic screening kits are available on the market right now to physicians interested in advancing their practice. Is it time for medical practice to catch up with the rest of the medical community?

Click here for more information on genetic screening research. For more information on testing and products for your practice, please follow this link.

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