Say Aa:Why pharmacogenetics is something worth talking about
BMJ 2006; 333 doi: https://doi.org/10.1136/sbmj.0607270 (Published 01 July 2006) Cite this as: BMJ 2006;333:0607270
- John D Blakey, clinical research fellow1
- 1Division of Therapeutics, University of Nottingham, Nottingham
Certain phrases are guaranteed to grab the attention of medical students—such as “beer,” “free stuff,” and “genetics.” Unfortunately, the last of these is usually avoided with the same fervour with which the others are pursued. An extensive survey (n=4 in the coffee room), found genetics was perceived to be complicated, confusing, and of limited relevance to patients. We highlight how millions of dollars and work hours have resulted in an explosion of available genetic data and introduce how this will profoundly influence prescribing practice in the future. And we promise not to draw a single pedigree.
A common scenario
Mrs B is referred to the respiratory outpatients department by her general practitioner as she has noticed increasing breathlessness on exertion and has a productive cough. As she has smoked a packet of cigarettes a day for the past 25 years, you feel confident she has chronic obstructive pulmonary disease (COPD). Examination and spirometry support your preliminary diagnosis, but your minor triumph is shortlived: Mrs B tells you about her next door neighbour, a chain smoking octogenarian who never gets out of breath. You are tempted to rubbish her suggestion, then an unexpected synapse recalls that less than a third of chronic heavy smokers get COPD.1
Mrs B says it can't just be the cigarettes and wants to know why she has been affected when her neighbour continues to dig his allotment unimpeded. You explain that an individual's genetic makeup can influence everything from the initial decision to try cigarettes, through the metabolism of inhaled toxins, to the likelihood of malignancy (fig 1).
Potential sites of influence of genetics in the development …
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