Intended for healthcare professionals


Pharmacogenetics—expectations and reality

BMJ 2004; 329 doi: (Published 01 July 2004) Cite this as: BMJ 2004;329:4
  1. Geoff Tucker, professor of clinical pharmacology (
  1. Academic Unit of Clinical Pharmacology, Pharmacokinetics and Pharmacogenetics Group, University of Sheffield, Royal Hallamshire Hospital, Sheffield S10 2JF

    Drug response and toxicity depend on genes, environment, and behaviour

    Thirty years have passed since Mike Rawlins, the current chairman of the National Institute for Clinical Excellence (NICE), coauthored a small but perfectly formed book entitled Variability in Human Drug Response.1 In the interim we have witnessed the waxing and waning of clinical pharmacology and the inexorable rise of genomic medicine. Genomic medicine has generated many expectations with regard to the advent of “personalised medicine” and “individualised prescriptions,” fuelled by the pace of technological advances in genotyping; enthusiasts extrapolating beyond small proof of principle and retrospective studies; and a few apparent success stories, such as the treatment of breast cancer with trastuzumab (Herceptin) and of HIV with abacavir (Ziagen).

    But the promise of pharmacogenetics has largely remained unfulfilled. In general, drug response and toxicity are likely to be a complex function of the influence of many genes interacting with environmental and behavioural factors. Trastuzumab is effective in only the 15-20% of breast cancer patients who respond positively to a test for mutations in the tumour that over-expresses human epidermal growth factor receptor (HER)-2.2 And about half of white, male, HIV positive patients …

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