Informed consent for population-based research involving genetics
Informed consent for population-based research involving genetics
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DOI：
10.1001/jama.286.18.2315
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发表时间：
2001-11-14
影响因子：
120.7
通讯作者：
Khoury, MJ
中科院分区：
文献类型：
--
作者：
Beskow, LM;Burke, W;Khoury, MJ
要弥合基因发现与我们利用遗传信息造福健康的能力之间的差距，就需要以人群为基础的知识，了解常见基因变异和基因-环境相互作用对疾病风险的影响。涉及遗传学的以人群为基础的研究，特别是低外显率基因变异，其风险和益处可能与以家庭为基础的研究在性质上有所不同。为了响应对适当指导方针的迫切需要，疾病控制和预防中心成立了一个多学科小组，以制定一种将遗传变异纳入基于人群的研究的知情同意方法。该小组参考了专家意见、联邦法规、国家生物伦理咨询委员会（National Bioethics Advisory Commission）关于涉及人类生物材料的研究的报告、现有的同意表格和知情同意文献，为知情同意文件和补充手册创建了建议语言。这种措辞反映了一个前提，即伤害的可能性和程度以及可能的个人利益与结果对参与者健康的意义直接相关，适当的披露和获得同意的程序应基于一开始对结果产生信息的可能性的评估，这些信息可能直接导致循证干预。提出这种知情同意方法是为了促进关于如何最好地使潜在参与者对涉及遗传学的基于人群的研究做出知情决定的讨论，并建议研究发起人、机构审查委员会和调查人员考虑的问题。
Bridging the gap between gene discovery and our ability to use genetic information to benefit health requires population-based knowledge about the contribution of common gene variants and gene-environment interactions to the risk of disease. The risks and benefits associated with population-based research involving genetics, especially lower-penetrance gene variants, can differ in nature from those associated with family-based research. In response to the urgent need for appropriate guidelines, the Centers for Disease Control and Prevention formed a multidisciplinary group to develop an informed consent approach for integrating genetic variation into population-based research. The group used expert opinion and federal regulations, the National Bioethics Advisory Commission's report on research involving human biological materials, existing consent forms, and literature on informed consent to create suggested language for informed consent documents and a supplemental brochure. This language reflects the premise that the probability and magnitude of harm, as well as possible personal benefits, are directly related to the meaning of the results for the health of the participant and that appropriate disclosures and processes for obtaining consent should be based on an assessment at the outset of the likelihood that the results will generate information that could lead directly to an evidence-based intervention. This informed consent approach is proposed to promote discussion about how best to enable potential participants to make informed decisions about population-based research involving genetics and to suggest issues for consideration by research sponsors, institutional review boards, and investigators.