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正反观点. 临床基因组学中的患者自主性和偶然发现。

Point-counterpoint. Patient autonomy and incidental findings in clinical genomics.

机构信息

University of Minnesota, Minneapolis, MN 55455, USA.

出版信息

Science. 2013 May 31;340(6136):1049-50. doi: 10.1126/science.1239119. Epub 2013 May 16.

DOI:10.1126/science.1239119
PMID:23686341
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3721305/
Abstract

In spite of the centrality of informed consent in clinical genetics and genomics, new recommendations from the American College of Medical Genetics and Genomics (ACMG) call for laboratories and clinicians to test for and report specific genetic incidental findings, even when the patient does not consent to the testing or disclosure and even when the patient is a child.

摘要

尽管知情同意在临床遗传学和基因组学中至关重要，但美国医学遗传学与基因组学学院（ACMG）的新建议要求实验室和临床医生检测和报告特定的遗传偶然发现，即使患者不同意检测或披露，甚至当患者是儿童时也是如此。

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Point-counterpoint. Ethics and genomic incidental findings.针锋相对。伦理学与基因组偶然发现
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本文引用的文献

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.ACMG 临床外显子组和基因组测序中偶然发现报告的推荐标准。
Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.
2
Technical report: Ethical and policy issues in genetic testing and screening of children.技术报告：儿童基因检测和筛查中的伦理和政策问题。
Genet Med. 2013 Mar;15(3):234-45. doi: 10.1038/gim.2012.176. Epub 2013 Feb 21.
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Managing incidental findings and research results in genomic research involving biobanks and archived data sets.管理涉及生物库和存档数据集的基因组研究中的偶发发现和研究结果。
Genet Med. 2012 Apr;14(4):361-84. doi: 10.1038/gim.2012.23.
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Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.全基因组关联研究个体研究结果的回报：电子病历和基因组学（eMERGE）网络的经验。
Genet Med. 2012 Apr;14(4):424-31. doi: 10.1038/gim.2012.15. Epub 2012 Feb 23.
5
Putting the Genetic Information Nondiscrimination Act in context.将《遗传信息非歧视法案》置于背景之中。
Genet Med. 2008 Sep;10(9):655-6. doi: 10.1097/gim.0b013e31818337bd.
6
Managing incidental findings in human subjects research: analysis and recommendations.人类受试者研究中偶然发现的管理：分析与建议
J Law Med Ethics. 2008 Summer;36(2):219-48, 211. doi: 10.1111/j.1748-720X.2008.00266.x.
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Medicine. Reestablishing the researcher-patient compact.医学。重建研究者与患者的契约。
Science. 2007 May 11;316(5826):836-7. doi: 10.1126/science.1135489.
8
The incidentalome: a threat to genomic medicine.偶发瘤：对基因组医学的威胁。
JAMA. 2006 Jul 12;296(2):212-5. doi: 10.1001/jama.296.2.212.
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Generic consent for genetic screening.基因筛查的一般同意书。
N Engl J Med. 1994 Jun 2;330(22):1611-3. doi: 10.1056/NEJM199406023302213.
10
Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors.需要考虑的要点：儿童和青少年基因检测的伦理、法律及社会心理影响。美国人类遗传学会董事会、美国医学遗传学学院董事会。
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