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本文引用的文献

1
"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.“我想知道潘多拉魔盒里有什么”:比较临床全基因组测序中偶然发现的利益相关者观点。
Am J Med Genet A. 2012 Oct;158A(10):2519-25. doi: 10.1002/ajmg.a.35554. Epub 2012 Aug 17.
2
Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project.前瞻性个体化医疗基因分型的实施:范德堡 PREDICT 项目的设计。
Clin Pharmacol Ther. 2012 Jul;92(1):87-95. doi: 10.1038/clpt.2011.371. Epub 2012 May 16.
3
Incidental medical information in whole-exome sequencing.全外显子测序中的偶然医疗信息。
Pediatrics. 2012 Jun;129(6):e1605-11. doi: 10.1542/peds.2011-0080. Epub 2012 May 14.
4
Exploring concordance and discordance for return of incidental findings from clinical sequencing.探讨临床测序中偶然发现结果的一致性和不一致性。
Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15.
5
Taxonomizing, sizing, and overcoming the incidentalome.分类、定标和克服偶然发现。
Genet Med. 2012 Apr;14(4):399-404. doi: 10.1038/gim.2011.68. Epub 2012 Feb 9.
6
The legal risks of returning results of genomics research.基因组学研究结果回传的法律风险。
Genet Med. 2012 Apr;14(4):473-7. doi: 10.1038/gim.2012.10. Epub 2012 Feb 9.
7
Currents in contemporary bioethics: physicians' duty to inform patients of new medical discoveries: the effect of health information technology.当代生物伦理学的潮流:医生向患者告知新医学发现的义务:健康信息技术的影响。
J Law Med Ethics. 2011 Winter;39(4):690-3. doi: 10.1111/j.1748-720X.2011.00636.x.
8
Exome sequencing as a tool for Mendelian disease gene discovery.外显子组测序作为孟德尔疾病基因发现的工具。
Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031.
9
Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time.在临床实践和公共卫生中应用全基因组测序:一次处理一个分类单元来应对挑战。
Genet Med. 2011 Jun;13(6):499-504. doi: 10.1097/GIM.0b013e318220aaba.
10
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group.向研究参与者报告基因研究结果的伦理与实践指南:美国国立心肺血液研究所工作组的更新指南
Circ Cardiovasc Genet. 2010 Dec;3(6):574-80. doi: 10.1161/CIRCGENETICS.110.958827.

管理偶然发现的基因组学信息:临床医生的法律义务。

Managing incidental genomic findings: legal obligations of clinicians.

机构信息

Center for Biomedical Ethics and Society, Vanderbilt University, Nashville, Tennessee, USA.

出版信息

Genet Med. 2013 Aug;15(8):624-9. doi: 10.1038/gim.2013.7. Epub 2013 Feb 28.

DOI:10.1038/gim.2013.7
PMID:23448723
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3805501/
Abstract

PURPOSE

Clinical whole-exome and whole-genome sequencing will result in a broad range of incidental findings, but clinicians' obligations to identify and disclose such findings are a matter of debate. We sought legal cases that could offer insights into clinicians' legal liability.

METHODS

We searched for cases in which incidental findings were related to the cause of action, using the search engines WestLaw, WestLaw Next, Lexis, and Lexis Advance.

RESULTS

We found no case law related to incidental findings from genetic testing but identified eight cases involving incidental findings in medical imaging. These cases suggest that clinicians may face liability for failing to disclose incidental findings that would have offered an opportunity for interventions to improve health outcome, if under the applicable standard of care, they fail to identify or appreciate the significance of the incidental finding or they negligently fail to notify other clinicians and/or the patient of the identified incidental finding. Other cases support liability for failure to refer appropriately to a clinician with greater expertise.

CONCLUSIONS

Clinicians may face liability if they fail to disclose incidental information that could inform interventions to improve health outcome; information lacking clinical actionability is likely to have less import.

摘要

目的

临床外显子组和全基因组测序将产生广泛的偶然发现,但临床医生识别和披露这些发现的义务是一个有争议的问题。我们寻求可以为临床医生的法律责任提供见解的法律案例。

方法

我们使用 WestLaw、WestLaw Next、Lexis 和 Lexis Advance 等搜索引擎,搜索与诉讼原因相关的偶然发现案例。

结果

我们没有发现与遗传测试偶然发现相关的案例法,但确定了涉及医疗成像中偶然发现的八个案例。这些案例表明,如果在适用的护理标准下,临床医生未能识别或认识到偶然发现的意义,或者疏忽地未能通知其他临床医生和/或患者已识别的偶然发现,那么他们可能会因未能披露偶然发现而面临责任,这些偶然发现可能为改善健康结果提供干预机会。其他案例支持因未能适当转介给具有更高专业知识的临床医生而承担责任。

结论

如果临床医生未能披露可能告知干预以改善健康结果的偶然信息,他们可能会面临责任;缺乏临床可操作性的信息可能意义不大。