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BMJ 2008; 336 doi: https://doi.org/10.1136/bmj.39526.462905.BE (Published 27 March 2008) Cite this as: BMJ 2008;336:690

Genome research remains on the edges of mainstream medicine

Scientists finished sequencing the human genome in 2003. They are now busy looking for the genetic markers for common diseases using new gene scanning technology that is fast, accurate, and relatively cheap, says one comment article. Genome wide association studies have already found plausible markers for various cancers, diabetes, heart disease, and Crohn’s disease to name just a few. When, if ever, will the research translate into better prevention, diagnosis, and treatment?

Evidence, or lack of it, is one of the biggest barriers, the article says. These markers typically contribute 10-40% of a person’s individual risk of disease, and that proportion varies between populations in an unpredictable way. We don’t know how genetic markers interact with environmental risk factors. And we have little idea whether prevention and treatment guided by genotype is any better or safer than traditional preventive or therapeutic measures. Even if we did, doctors and the general public have such a …

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