Understanding incidental findings in the context of genetics and genomics
Understanding incidental findings in the context of genetics and genomics
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DOI：
10.1111/j.1748-720x.2008.00270.x
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发表时间：
2008-06-01
影响因子：
2.1
通讯作者：
Cho, Mildred K.
中科院分区：
文献类型：
--
作者：
Cho, Mildred K.
人类基因和基因组研究可以产生可能对作为研究对象的个人具有临床相关性的信息。在知情同意过程中，研究人员通常会通知参与者，不会透露任何个人结果，无论是“附带的”还是其他的。然而，随着研究中获得的基因信息变得数量更多、在线访问越来越多、信息量更大，这一先例可能不再合适。关于研究人员向研究参与者披露个人研究结果的责任，目前还没有达成共识。实证研究表明，参与者希望了解个人的研究结果。另一方面，新的基因组分析提供的更高的分辨率和能力可能会导致具有统计学意义的发现，但不一定是临床意义。本文讨论了在决定是否以及如何披露在人类基因组和基因研究过程中出现的“偶然”发现或其他具有临床意义的发现时要考虑的问题。哪些研究成果应该提供，哪些不应该提供？对于哪些研究，应该向研究参与者提供个人成果，应该在什么时候提供，如何提供，以及提供给谁？
Human genetic and genomic research can yield information that may be of clinical relevance to the individuals who participate as subjects of the research. It has been common practice among researchers to notify participants during the informed consent process that no individual results will be disclosed, "incidental" or otherwise. However, as genetic information obtained in research becomes orders of magnitude more voluminous, increasingly accessible online, and more informative, this precedent may no longer be appropriate. There is not yet consensus on the responsibilities of researchers to disclose individual research results to research participants. Empirical research suggests that participants want to know individual research results. On the other hand, the increased resolution and power afforded by new genomic analyses may lead to findings of statistical, but not necessarily clinical, significance. This paper addresses the issues to be considered in deciding whether and how to disclose "incidental" findings or other findings of clinical significance that arise in the course of human genomic and genetic research. What research results should be offered, and what should not be offered? For which research should individual results be offered to research participants, when should they be offered, how, and to whom?.