Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Hum Genet. 2011 Jul;130(1):15-8. doi: 10.1007/s00439-011-0986-9. Epub 2011 Apr 13.
The decade since the publication of the Human Genome Project draft has ended with the discovery of hundreds of genomic markers related to diseases and phenotypes. However, the project has not yet delivered on its promise to tailor treatments for individuals. The number of genomic markers in clinical practice is very small. The number of markers to guide treatment decisions is even smaller. In order to speed up discovery and validation of genomic treatment selection markers, we call for considering the brilliant potential of randomized clinical trials. If biomedical research community can collaborate in organizing large-scale consortium of clinical trials associated with well-designed biobanks, these studies would soon act as huge laboratories for investigating genomic medicine; a big step forward towards personalizing medicine.
自人类基因组计划草案发布以来的十年已经过去，在此期间发现了数百个与疾病和表型相关的基因组标记。然而，该计划尚未实现为个体定制治疗的承诺。在临床实践中，基因组标记的数量非常少。指导治疗决策的标记数量甚至更少。为了加快基因组治疗选择标记的发现和验证，我们呼吁考虑随机临床试验的卓越潜力。如果生物医学研究界能够合作组织与精心设计的生物库相关的大型临床试验联盟，这些研究将很快成为研究基因组医学的巨大实验室；朝着个性化医学迈出了一大步。
