Mir Kalim U
The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Brief Funct Genomic Proteomic. 2009 Sep;8(5):367-78. doi: 10.1093/bfgp/elp040.
The whole genome sequences of Jim Watson and Craig Venter are early examples of personalized genomics, which promises to change how we approach healthcare in the future. Before personal sequencing can have practical medical benefits, however, and before it should be advocated for implementation at the population-scale, there needs to be a better understanding of which genetic variants influence which traits and how their effects are modified by epigenetic factors. Nonetheless, for forging links between DNA sequence and phenotype, efforts to sequence the genomes of individuals need to continue; this includes sequencing sub-populations for association studies which analyse the difference in sequence between disease affected and unaffected individuals. Such studies can only be applied on a large enough scale to be effective if the massive strides in sequencing technology that have recently occurred also continue.
吉姆·沃森(Jim Watson)和克雷格·文特尔(Craig Venter)的全基因组序列是个性化基因组学的早期实例,这有望改变我们未来对待医疗保健的方式。然而,在个人测序能够带来实际的医疗益处之前,以及在倡导在人群规模上实施之前,需要更好地了解哪些基因变异影响哪些性状,以及它们的效应如何被表观遗传因素修饰。尽管如此,为了建立DNA序列与表型之间的联系,对个体基因组进行测序的工作仍需继续;这包括对亚群体进行测序以开展关联研究,分析患病个体和未患病个体之间的序列差异。只有最近在测序技术上取得的巨大进展得以持续,此类研究才能在足够大的规模上应用以产生效果。