超越碱基对到床边：从人群角度看基因组学如何改善健康。
Beyond base pairs to bedside: a population perspective on how genomics can improve health.
机构信息
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA.
出版信息
Am J Public Health. 2012 Jan;102(1):34-7. doi: 10.2105/AJPH.2011.300299. Epub 2011 Nov 28.
Abstract
A decade after the sequencing of the human genome, the National Human Genome Research Institute announced a strategic plan for genomic medicine. It calls for evaluating the structure and biology of genomes, understanding the biology of disease, advancing the science of medicine, and improving the effectiveness of health care. Fulfilling the promise of genomics urgently requires a population perspective to complement the bench-to-bedside model of translation. A population approach should assess the contribution of genomics to health in the context of social and environmental determinants of disease; evaluate genomic applications that may improve health care; design strategies for integrating genomics into practice; address ethical, legal, and social issues; and measure the population health impact of new technologies.
摘要
人类基因组测序工作完成十周年之际，美国国家人类基因组研究所公布了一项基因组医学战略计划。该计划呼吁评估基因组的结构和生物学特性，了解疾病的生物学机制，推动医学科学进步，提高医疗保健的效果。为了尽快兑现基因组学的承诺，我们迫切需要从人群的角度出发，来补充从实验台到病床的转化模式。人群研究方法应该在考虑疾病的社会和环境决定因素的情况下，评估基因组学对健康的贡献；评估可能改善医疗保健的基因组学应用；设计将基因组学融入实践的策略；解决伦理、法律和社会问题；并衡量新技术对人群健康的影响。
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