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Communication, encouragement, and cancer screening in families with and without mutations for hereditary nonpolyposis colorectal cancer: a pilot study.遗传性非息肉病性结直肠癌有无突变家庭中的沟通、鼓励与癌症筛查:一项试点研究。
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Psychological and behavioral responses to genetic test results indicating increased risk of obesity: does the causal pathway from gene to obesity matter?对表明肥胖风险增加的基因检测结果的心理和行为反应:从基因到肥胖的因果途径重要吗?
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Functions of health fatalism: fatalistic talk as face saving, uncertainty management, stress relief and sense making.健康宿命论的功能:作为保全面子、不确定性管理、缓解压力和意义建构的宿命论话语。
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Validating, augmenting and refining genome-wide association signals.验证、增强和完善全基因组关联信号。
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Human genetic variation and its contribution to complex traits.人类遗传变异及其对复杂性状的贡献。
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基因组学在未来的健康应用:沟通、行为和社会科学研究的优先事项。

Future health applications of genomics: priorities for communication, behavioral, and social sciences research.

机构信息

Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA.

出版信息

Am J Prev Med. 2010 May;38(5):556-65. doi: 10.1016/j.amepre.2010.01.027.

DOI:10.1016/j.amepre.2010.01.027
PMID:20409503
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4188632/
Abstract

Despite the quickening momentum of genomic discovery, the communication, behavioral, and social sciences research needed for translating this discovery into public health applications has lagged behind. The National Human Genome Research Institute held a 2-day workshop in October 2008 convening an interdisciplinary group of scientists to recommend forward-looking priorities for translational research. This research agenda would be designed to redress the top three risk factors (tobacco use, poor diet, and physical inactivity) that contribute to the four major chronic diseases (heart disease, type 2 diabetes, lung disease, and many cancers) and account for half of all deaths worldwide. Three priority research areas were identified: (1) improving the public's genetic literacy in order to enhance consumer skills; (2) gauging whether genomic information improves risk communication and adoption of healthier behaviors more than current approaches; and (3) exploring whether genomic discovery in concert with emerging technologies can elucidate new behavioral intervention targets. Important crosscutting themes also were identified, including the need to: (1) anticipate directions of genomic discovery; (2) take an agnostic scientific perspective in framing research questions asking whether genomic discovery adds value to other health promotion efforts; and (3) consider multiple levels of influence and systems that contribute to important public health problems. The priorities and themes offer a framework for a variety of stakeholders, including those who develop priorities for research funding, interdisciplinary teams engaged in genomics research, and policymakers grappling with how to use the products born of genomics research to address public health challenges.

摘要

尽管基因组学发现的步伐正在加快,但将这一发现转化为公共卫生应用所需的沟通、行为和社会科学研究却落后了。国家人类基因组研究所于 2008 年 10 月举办了为期两天的研讨会,召集了一组跨学科的科学家,为转化研究推荐前瞻性的优先事项。这一研究议程旨在解决导致四大慢性疾病(心脏病、2 型糖尿病、肺病和许多癌症)的三大主要风险因素(吸烟、不良饮食和缺乏运动),这些疾病占全球所有死亡人数的一半。确定了三个优先研究领域:(1)提高公众的遗传素养,以增强消费者技能;(2)评估基因组信息是否比当前方法更能改善风险沟通和更健康行为的采用;(3)探索基因组发现与新兴技术相结合是否能阐明新的行为干预目标。还确定了重要的跨领域主题,包括需要:(1)预测基因组发现的方向;(2)在提出研究问题时采取一种不可知论的科学观点,询问基因组发现是否为其他健康促进工作增添了价值;(3)考虑对重要公共卫生问题有影响的多个层次和系统。这些优先事项和主题为各种利益相关者提供了一个框架,包括那些制定研究资金优先事项的人、从事基因组学研究的跨学科团队以及努力利用基因组学研究成果应对公共卫生挑战的政策制定者。