Will the revolution in genetics improve healthcare?

BMJ 2012; 345 doi: https://doi.org/10.1136/bmj.e4651 (Published 20 July 2012) Cite this as: BMJ 2012;345:e4651
  1. Liam Smeeth, professor of clinical epidemiology1,
  2. Tjeerd van Staa, director of research2
  1. 1London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK
  2. 2Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, Netherlands
  1. liam.smeeth{at}lshtm.ac.uk

We need randomised trials to tell us

The new millennium has brought with it an explosion in genetic knowledge. Future generations are likely to look back at this time as the beginning of a new era in human genetics and health. The major challenge facing researchers is how to translate this new knowledge into improved health and healthcare, and progress has been slower than predicted.1 2 Simply knowing that a genetic variant is associated with an increased risk of a disease or that it influences a response to drug treatment is only half the picture. The new research frontiers are how this knowledge should be used and assessing the clinical and cost effectiveness of such use. A linked research study by Hollands and colleagues (doi:10.1136/bmj.e4708) is a pioneering attempt to use a genetic discovery to improve healthcare.3

Increased knowledge of the underlying genetic causes of disease has already made major contributions. For example, the finding that genetic variants of components of the complement pathway were associated with age related macular degeneration stimulated a whole new area of research and suggested …

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