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On the use of genetic risk scores to predict cardiovascular disease in the general population
  1. Alexandre C Pereira1,2
  1. 1Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of Sao Paulo, Sao Paulo, Brazil
  2. 2Genetics Department, Harvard Medical School, Boston, Massachusetts, USA
  1. Correspondence to Dr Alexandre C Pereira, Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of Sao Paulo, Sao Paulo, 05403-000, Brazil; alexandre.pereira{at}

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Using genetic information to predict the risk of common diseases has been the holy grail of several groups working in genetics of common human diseases.1 Results up to now have been contradictory and subject to widely different interpretations: from sheer enthusiasm to deep pessimism. While great success has been obtained in the identification of several hundreds of genetic markers robustly and consistently associated with a wide range of human quantitative phenotypes, for the majority of these genetic variants, no clear translation into a better prediction capacity has been shown. In their Heart publication, Morris et al2 provide new data on the predictive capacity of a genetic risk score crafted using information on 53 common genetic markers previously associated with coronary artery disease or stroke and studied in more than 10 000 individuals from different UK prospective studies (please insert reference here). The results are still far from the ones needed for wide-scale population-based use. And the overall conclusion, if taken blindly, not the most encouraging one for the future use of genetic information in this clinical scenario.

The idea that the use of the combined information from several genetic markers associated with a complex phenotype could increase predictive accuracy for common human diseases is not new.3 This could be done through the …

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  • Competing interests None declared.

  • Provenance and peer review Commissioned; internally peer reviewed.

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