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Is there a duty to reinterpret genetic data? The ethical dimensions.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2019-10-15 , DOI: 10.1038/s41436-019-0679-7
Paul S Appelbaum 1 , Erik Parens 2 , Sara M Berger 3 , Wendy K Chung 4 , Wylie Burke 5
Affiliation  

The evolving evidence base for the interpretation of variants identified in genetic and genomic testing has presented the genetics community with the challenge of variant reinterpretation. In particular, it is unclear whether an ethical duty of periodic reinterpretation should exist, who should bear that duty, and what its dimensions should be. Based on an analysis of the ethical arguments for and against a duty to reinterpret, we conclude that a duty should be recognized. Most importantly, by virtue of ordering and conducting tests likely to produce data on variants that cannot be definitively interpreted today, the health-care system incurs a duty to reinterpret when more reliable data become available. We identify four elements of the proposed ethical duty: data storage, initiation of reinterpretation, conduct of reinterpretation, and patient recontact, and we identify the parties best situated to implement each component. We also consider the reasonable extent and duration of a duty, and the role of the patient's consent in the process, although we acknowledge that some details regarding procedures and funding still need to be addressed. The likelihood of substantial patient benefit from a systematic approach to reinterpretation suggests the importance for the genetics community to reach consensus on this issue.

中文翻译:


是否有责任重新解释遗传数据?道德维度。



用于解释遗传和基因组测试中发现的变异的不断发展的证据基础向遗传学界提出了变异重新解释的挑战。特别是,目前还不清楚是否应该存在定期重新解释的道德义务、谁应该承担该义务以及其范围应该是什么。基于对支持和反对重新解释义务的道德论点的分析,我们得出结论,应该承认一项义务。最重要的是,由于订购和进行的测试可能会产生目前无法明确解释的变异数据,医疗保健系统有责任在获得更可靠的数据时重新解释。我们确定了拟议道德义务的四个要素:数据存储、重新解释的启动、重新解释的实施以及患者重新联系,并且我们确定了最适合实施每个组成部分的各方。我们还考虑了职责的合理范围和持续时间,以及患者同意在该过程中的作用,尽管我们承认有关程序和资金的一些细节仍然需要解决。系统性的重新解释方法可能会给患者带来大量益处,这表明遗传学界在这个问题上达成共识的重要性。
更新日期:2019-10-16
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