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除新生儿筛查外,现在基因组学领域还需要公共卫生行动。

Public health action in genomics is now needed beyond newborn screening.

作者信息

Bowen M S, Kolor K, Dotson W D, Ned R M, Khoury M J

机构信息

Centers for Disease Control and Prevention, Department of Health and Human Services, Atlanta, GA, USA.

出版信息

Public Health Genomics. 2012;15(6):327-34. doi: 10.1159/000341889. Epub 2012 Sep 11.

Abstract

For decades, newborn screening was the only public health program in the US focused on reducing morbidity, mortality and disability in people affected by genetic conditions. The landscape has changed, however, as evidence-based recommendations are now available for several other genomic applications that can save lives now in the US. Many more such applications are expected to emerge in the next decade. An action plan, based on evidence, provides the impetus for a new paradigm for public health practice in genomics across the lifespan using established multilevel processes as a guide. These include policy interventions, education, clinical interventions, and surveillance. Applying what we know today in hereditary breast/ovarian cancer, Lynch syndrome and familial hypercholesterolemia has the potential to affect thousands of people in the US population every year. Enhanced partnerships between genetic and nongenetic providers of clinical medicine and public health are needed to overcome the challenges for implementing genomic medicine applications both now and in the future.

摘要

几十年来,新生儿筛查一直是美国唯一一项致力于降低受遗传疾病影响人群的发病率、死亡率和残疾率的公共卫生项目。然而,情况已经发生了变化,因为现在有了基于证据的建议,适用于其他几种在美国能够挽救生命的基因组应用。预计在未来十年还会出现更多这样的应用。一项基于证据的行动计划为在整个生命周期内利用既定的多层次流程作为指导,为基因组学公共卫生实践的新范式提供了动力。这些流程包括政策干预、教育、临床干预和监测。应用我们如今在遗传性乳腺癌/卵巢癌、林奇综合征和家族性高胆固醇血症方面所掌握的知识,每年有可能影响美国成千上万的人口。需要加强临床医学和公共卫生领域的遗传和非遗传服务提供者之间的伙伴关系,以克服当前及未来实施基因组医学应用所面临的挑战。

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