Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and "personalized" medicine?

Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and "personalized" medicine?
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DOI:
10.1097/gim.0b013e3182011222
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发表时间:
2010-12-01
影响因子:
8.8
通讯作者:
Zimmern, Ronald L.
Zimmern, Ronald L.
中科院分区:
医学1区
文献类型:
--
作者:
Burke, Wylie;Burton, Hilary;Zimmern, Ronald L.

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在人类基因组计划完成后的十年里,人们对基因组学在改善人口健康方面的效用提出了各种不同的主张。一方面,基因组学被认为是一个勇敢的新世界的先驱,在这个新世界中,新的治疗方法可以纠正已知的疾病原因。另一方面,基因组学对于主要由社会或环境引起的疾病的主要原因或治疗方法可能没有什么实际意义,特别是在低收入和中等收入国家。那些支持公共卫生基因组学作用的人认为,增加基因组学和分子病理学的知识可以释放有效的诊断技术和治疗方法,并更好地针对公共卫生干预措施。为了解决其中一些紧张关系,2010年5月在联合王国伊克沃思举行了一次国际多学科会议,目的是为在基因组和“个性化”医学时代发展公共卫生制定议程。出现了一些关键主题,表明需要重新调整现有基因组研究的重点和供资的目标阶段,以便优先考虑对健康影响最大的潜在领域,并更加重视从基础科学到实施的转变。为了支持这些发展,应当立即、持续和系统地努力提供证据基础。这些讨论构成了六项关键建议的基础,这些建议可以指导基因组学和个性化医疗时代的公共卫生实践。Genet Med 2010:12(12):785-791.
The decade following the completion of the Human Genome Project has been marked by divergent claims about the utility of genomics for improving population health. On the one hand, genomics is viewed as the harbinger of a brave new world in which novel treatments rectify known causes of disease. On the other hand, genomics may have little practical relevance to the principal causes or remedies of diseases which are predominantly social or environmental in origin, particularly in low-and middle-income countries. Those supportive of a role for public health genomics argue that increasing knowledge of genomics and molecular pathology could unlock effective diagnostic techniques and treatments, and better target public health interventions. To resolve some of these tensions, an international multidisciplinary meeting was held in May 2010 in Ickworth, United Kingdom, with the aim of setting an agenda for the development of public health in an era of genome-based and "personalized" medicine. A number of key themes emerged, suggesting a need to reconfigure both the focus for existing genomic research and the stage at which funding is targeted, so that priority is given to areas of greatest potential health impact and that translation from basic science to implementation is given greater emphasis. To support these developments, there should be an immediate, sustained and systematic effort to provide an evidence base. These deliberations formed the basis for six key recommendations, which could guide the practice of public health in an era of genomics and personalized medicine. Genet Med 2010:12(12):785-791.