Application of personalized medicine to chronic disease: a feasibility assessment

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Personalized medicine tailors medical treatment to a patient’s personal history, genetic profile and specific biomarkers .


Pharmacogenetics (PGx) is an application of personalized medicine, referring to the process where patients are stratified and treated based on their genetic profile, which is used to assess expected drug response and the risk of adverse side effects. Traditional medicine typically relies on the broad application of “standard of care” or “one size fits all” treatments to all patients with a given diagnosis, irrespective of their genetic context.


The association between one’s gene variants and drug response rates or risks of adverse side effects to specific medications have been reported in many studies; in response, the US Food and Drug Administration (FDA) has updated the labels of nearly 100 drugs with recommendations for genetic testing prior to their use 



Personalized Medicine has the potential to improve health outcomes and reduce the cost of care; however its adoption has been slow in Canada.


The main goal of the study was to explore the feasibility of utilizing personalized medicine in the treatment of chronic complex patients as a preliminary institutional health technology assessment.


We analyzed stroke treatment optimization as a clinical indication that could serve as a “proof of concept” for the widespread implementation of pharmacogenetics. The objectives of the study were three-fold:


1. Review current practice in medication administration for stroke treatment at Bridgepoint Health

2. Critically analyze evidence that pharmacogenetic testing could (or could not) enhance drug selection and treatment efficacy for stroke patients;

3. Assess the cost-benefit potential of a pharmacogenetic intervention for stroke.


Summary of results

The PGx-guided treatment approach has the potential to optimize drug treatment for complex continuing care patients who take a battery of medications for a prolonged period of time.


We have shown that genetic testing for antiplatelet medications and anticoagulants would greatly benefit prevention of secondary stroke, particularly in patients on clopidogrel or warfarin.


Specifically, PGx testing for clopidogrel metabolism is strongly recommended by the FDA and leading pharmacogenetic experts. It would be prudent of BPH to consider practical implementation of genetic testing for current and future clopidogrel users. Furthermore, an integrated approach for critical re-evaluation of the entire drug portfolio can add further value at minimal extra cost when expanding basic testing to include other gene variants.


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