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基因组时代的公共卫生:《公共卫生基因组学》是否会推动常见疾病预防的重大变革?

Public health in the genomic era: will Public Health Genomics contribute to major changes in the prevention of common diseases?

机构信息

Operational Direction Public Health and Surveillance, Scientific Institute of Public Health, Brussels, Belgium.

出版信息

Arch Public Health. 2011 Dec 5;69(1):8. doi: 10.1186/0778-7367-69-8.

Abstract

The completion of the Human Genome Project triggered a whole new field of genomic research which is likely to lead to new opportunities for the promotion of population health. As a result, the distinction between genetic and environmental diseases has faded. Presently, genomics and knowledge deriving from systems biology, epigenomics, integrative genomics or genome-environmental interactions give a better insight on the pathophysiology of common diseases. However, it is barely used in the prevention and management of diseases. Together with the boost in the amount of genetic association studies, this demands for appropriate public health actions. The field of Public Health Genomics analyses how genome-based knowledge and technologies can responsibly and effectively be integrated into health services and public policy for the benefit of population health. Environmental exposures interact with the genome to produce health information which may help explain inter-individual differences in health, or disease risk. However today, prospects for concrete applications remain distant. In addition, this information has not been translated into health practice yet. Therefore, evidence-based recommendations are few. The lack of population-based research hampers the evaluation of the impact of genomic applications. Public Health Genomics also evaluates the benefits and risks on a larger scale, including normative, legal, economic and social issues. These new developments are likely to affect all domains of public health and require rethinking the role of genomics in every condition of public health interest. This article aims at providing an introduction to the field of and the ideas behind Public Health Genomics.

摘要

人类基因组计划的完成引发了一个全新的基因组研究领域,这可能为促进人口健康带来新的机遇。因此,遗传疾病和环境疾病之间的区别已经变得模糊。目前,基因组学以及系统生物学、表观基因组学、综合基因组学或基因组-环境相互作用等方面的知识,为常见疾病的病理生理学提供了更好的认识。然而,这些知识在疾病的预防和管理中几乎没有得到应用。随着遗传关联研究数量的增加,这就需要采取适当的公共卫生行动。公共卫生基因组学领域分析了基于基因组的知识和技术如何能够负责任和有效地融入卫生服务和公共政策,以造福于人口健康。环境暴露与基因组相互作用产生健康信息,这些信息可能有助于解释个体间健康或疾病风险的差异。然而,目前具体应用的前景仍然遥远。此外,这些信息尚未转化为健康实践。因此,基于证据的建议很少。缺乏基于人群的研究阻碍了对基因组应用影响的评估。公共卫生基因组学还在更大范围内评估效益和风险,包括规范、法律、经济和社会问题。这些新的发展可能会影响公共卫生的所有领域,需要重新思考基因组学在每一种公共卫生关注条件下的作用。本文旨在介绍公共卫生基因组学的领域和背后的理念。

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