Intended for healthcare professionals


Pharmacogenetics begins to deliver on its promises

BMJ 2015; 351 doi: (Published 23 September 2015) Cite this as: BMJ 2015;351:h5042
  1. Alain Li-Wan-Po, director
  1. 1Centre for Evidence-Based Pharmacotherapy, Nottingham NG9 3FD, UK
  1. a.liwanpo{at}

Those promises include safer and smarter use of drugs

Pharmacogenetics promises the safer use of drugs through personalised prescribing that is informed by the genetic make-up of the individual, cancer tumour, or invading micro-organism. Although the first inherited molecular marker for a severe drug induced toxic effect was identified over half a century ago, until recently, few such markers were routinely used by prescribers. Even pharmacogenetics pioneers were beginning to wonder whether it was all hype. However, rapid progress is being made, and an increasing number of drugs have been licensed for use with a companion genetic test, both to improve the chances of success and to reduce the risk of severe side effects. This progress is typified in a linked article reporting that genetic testing helped to reduce patients’ risk of a rare but serious adverse reaction to allopurinol.1

Abnormal reactions to foods and chemicals have been recorded since antiquity. Pythagoras, better known for his geometry, commented on hypersensitivity to the broad bean (favism); a reaction now known to be associated with hereditary deficiency in glucose-6-phosphate dehydrogenase (G6PD). Over 2000 years later, Charles Darwin observed that hair and skin colour was “correlated …

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