genome-based prediction of common diseases methodological considerations for future researchgenome-based常见疾病的预测方法考虑为未来的研究.pdfVIP

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genome-based prediction of common diseases methodological considerations for future researchgenome-based常见疾病的预测方法考虑为未来的研究.pdf

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genome-based prediction of common diseases methodological considerations for future researchgenome-based常见疾病的预测方法考虑为未来的研究

Review GGeennoommee--bbaasseedd pprreeddiiccttiioonn ooff ccoommmmoonn ddiisseeaasseess:: mmeetthhooddoollooggiiccaall ccoonnssiiddeerraattiioonnss ffoorr ffuuttuurree rreesseeaarrcchh A Cecile JW Janssens* and Cornelia M van Duijn* Address: *Department of Epidemiology, Erasmus University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands. Correspondence: A Cecile JW Janssens. Email: a.janssens@erasmusmc.nl. Published: 18 February 2009 Genome Medicine 2009, 11::N (doi:10.1186/gm20) The electronic version of this article is the complete one and can be found online at /content/1/2/20 © 2009 BioMed Central Ltd AAbbssttrraacctt The translation of emerging genomic knowledge into public health and clinical care is one of the major challenges for the coming decades. At the moment, genome-based prediction of common diseases, such as type 2 diabetes, coronary heart disease and cancer, is still not informative. Our understanding of the genetic basis of multifactorial diseases is improving, but the currently identified susceptibility variants contribute only marginally to the development of disease. At the same time, an increasing number of companies are offering personalized lifestyle and health recommendations on the basis of individual genetic profiles. This discrepancy between the limited predictive value and the commercial availability of genetic profiles highlights the need for a critical appraisal of the usefulness of genome-based applications in clinical and public health care. Anticipating the discovery of a large number of genetic variants in the near future, we need to prepare a framework for the design and analysis of studies aiming to evalua