Whole genome sequencing fails to predict risk of most common diseases

BMJ 2012; 344 doi: (Published 03 April 2012) Cite this as: BMJ 2012;344:e2535
  1. Susan Mayor
  1. 1London

Whole genome sequencing fails to provide useful guidance on the risk of the most common diseases, according to results published this week of a study comparing risk in thousands of pairs of identical twins.

Whole genome sequencing analyses all the genes coded for by a person’s entire DNA. The cost of the procedure has fallen dramatically over the past few years, so there has been growing interest in its potential for predicting risk of disease.

Each person has millions of genetic variants, and the contribution of nearly all these variants to any disease is unknown, making it very difficult to assess the benefit of whole genome sequencing in determining the risk of a …

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