Willard Huntington F, Angrist Misha, Ginsburg Geoffrey S
Institute for Genome Sciences & Policy, Duke University, CIEMAS 2376, 101 Science Drive, Durham, NC 27708, USA.
Philos Trans R Soc Lond B Biol Sci. 2005 Aug 29;360(1460):1543-50. doi: 10.1098/rstb.2005.1683.
Advances in genome technology and other fruits of the Human Genome Project are playing a growing role in the delivery of health care. With the development of new technologies and opportunities for large-scale analysis of the genome, transcriptome, proteome and metabolome, the genome sciences are poised to have a profound impact on clinical medicine. Cancer prognostics will be among the first major test cases for a genomic medicine paradigm, given that all cancer is caused by genomic instability, and microarrays allow assessment of patients' entire expressed genomes. Analysis of breast cancer patients' expression patterns can already be highly correlated with recurrence risks. By integrating clinical data with gene expression profiles, imaging, metabolomic profiles and proteomic data, the prospect for developing truly individualized care becomes ever more real. Notwithstanding these promises, daunting challenges remain for genomic medicine. Success will require planning robust prospective trials, analysing health care economic and outcome data, assuaging insurance and privacy concerns, developing health delivery models that are commercially viable and scaling up to meet the needs of the whole population.
基因组技术的进步以及人类基因组计划的其他成果在医疗保健服务中发挥着越来越重要的作用。随着新技术的发展以及对基因组、转录组、蛋白质组和代谢组进行大规模分析的机会不断涌现,基因组科学有望对临床医学产生深远影响。鉴于所有癌症都是由基因组不稳定引起的,且微阵列能够评估患者的整个表达基因组,癌症预后将成为基因组医学范式的首批重大测试案例之一。对乳腺癌患者表达模式的分析已经能够与复发风险高度相关。通过将临床数据与基因表达谱、成像、代谢组学谱和蛋白质组学数据相结合,开展真正个性化医疗的前景变得越来越现实。尽管有这些前景,但基因组医学仍面临严峻挑战。要取得成功,需要规划强有力的前瞻性试验、分析医疗保健经济和结果数据、缓解保险和隐私方面的担忧、开发具有商业可行性的医疗服务模式并扩大规模以满足全体人口的需求。