Saturday 6 December 2014

PHARMACOGENOMICS

Pharmacogenomics (sometimes referred to also as pharmacogenetics) is a discipline aimed to identify human genetic traits which can be associated either to drug response (sensitivity/resistance) or to adverse drug reactions. Some individuals have certain genetic variants (also called pharmacogenetic or pharmacogenomic markers) which can affect the way a drug is metabolized and therefore influence the drug power and/or the appearance of side-effects. Therefore pharmacogenomics is essentially relevant for (1) dose adjustment and (2) drug selection.

Until yesterday, the costs and turn-around time of testing, a lack of skilled counselling staff and regulatory and reimbursement issues curbed the spreading of pharmacogenetic testing. Today, thanks to time-effective analyses and preventive genotyping programs, pharmacogenomics is about to become a reality in the context of the so-called personalized medicine.

Personalized medicine is not something new. Already in ancient Greece Hippocrates used to measure the balance of blood, phlegm, yellow bile, and black bile to select the best therapy for every patient. Today we prefer to look at genetics rather than to these four fanciful humors, but the point is the same: the “one-fit-for-all” model is, at least for some available drug, not even desirable, as considerable advantages in treatment outcome (and side-effects avoidance) can be achieved through a personalized approach.

Just to explain the concept with a few numbers: only 30-60 % of patients respond properly to beta-blockers, anti-depressants, statins and antipsycothic agents. Adverse drug reactions can cause significant prolongation of hospital visits and, only in the USA, they are estimated to cause approximately 100,000 deaths every year. To learn more about pharmacogenomics: