Clinical Genetics Program, Department of Pediatrics, McMaster University Medical Center, Hamilton, Canada.
Clin Genet. 2011 May;79(5):403-12. doi: 10.1111/j.1399-0004.2010.01609.x. Epub 2011 Jan 10.
The delivery of personalized genomic medicine (refer Table 1 for a comparison of genomic vs genetic medicine and box 1 for glossary) hinges on obtaining personal genomic data through genome-wide association studies (GWAS) or whole-genome sequencing. After the completion of the human genome project (see box 2 for human genome projects and its derivative projects) in 2003, there appeared to be a period of euphoric optimism that as soon as the cost of sequencing the whole human genome could be brought down to an affordable range, the promise of personalized medicine would become a reality. However, inasmuch as the miraculous technological advancements are making whole-genome data acquisition an inexpensive reality, we are also starting to appreciate that making sense of the enormous amount of genomic data is a far bigger hurdle. Issues, both scientific and ethico-legal, will have to be addressed as genomic data are been pushed for clinical and direct-to-consumer utilization. [Table: see text].
个性化基因组医学的实现(参见表 1 中基因组医学与遗传医学的比较和框 1 中的词汇表)取决于通过全基因组关联研究(GWAS)或全基因组测序来获取个人基因组数据。在 2003 年人类基因组计划(参见框 2 中人类基因组计划及其衍生项目)完成后,人们似乎一度乐观地认为,一旦测序整个人类基因组的成本降低到可以承受的范围,个性化医疗的承诺就将成为现实。然而,尽管令人惊叹的技术进步使得全基因组数据的获取变得非常廉价,但我们也开始意识到,理解大量的基因组数据是一个更大的障碍。随着基因组数据被推向临床和直接面向消费者的应用,科学和伦理法律方面的问题都必须得到解决。[表:见正文]。