Department of Bioethics & Humanities, University of Washington, Seattle, Washington, USA.
Genet Med. 2010 Dec;12(12):785-91. doi: 10.1097/GIM.0b013e3182011222.
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.
人类基因组计划完成后的十年见证了对基因组学在改善人口健康方面的实用性的不同看法。一方面,基因组学被视为一个勇敢的新世界的先兆,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,基因组学可能与主要由社会或环境因素引起的疾病的主要原因或治疗方法几乎没有实际关联,特别是在中低收入国家。支持公共卫生基因组学作用的人认为,增加对基因组学和分子病理学的了解可以解锁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。为了解决其中的一些紧张局势,2010 年 5 月在英国的伊克沃思举行了一次国际多学科会议,旨在为基于基因组和“个性化”医学的公共卫生发展制定议程。出现了一些关键主题,表明需要重新配置现有的基因组研究重点和资金目标阶段,以便优先考虑对健康影响最大的领域,并更加重视从基础科学到实施的转化。为了支持这些发展,应该立即、持续和系统地努力提供一个证据基础。这些审议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学时代的公共卫生实践。