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本文引用的文献

1
ACMG recommendations on incidental findings are flawed scientifically and ethically.美国医学遗传学与基因组学学会(ACMG)关于偶发发现的建议在科学和伦理方面存在缺陷。
Genet Med. 2013 Sep;15(9):750-1. doi: 10.1038/gim.2013.96.
2
Return of secondary genomic findings vs patient autonomy: implications for medical care.二次基因组结果的反馈与患者自主权:对医疗护理的影响
JAMA. 2013 Jul 24;310(4):369-70. doi: 10.1001/jama.2013.41709.
3
Mandatory extended searches in all genome sequencing: "incidental findings," patient autonomy, and shared decision making.所有基因组测序中的强制扩展搜索:“偶然发现”、患者自主权与共同决策
JAMA. 2013 Jul 24;310(4):367-8. doi: 10.1001/jama.2013.41700.
4
On the ethics of clinical whole genome sequencing of children.论儿童临床全基因组测序的伦理问题
Pediatrics. 2013 Aug;132(2):207-9. doi: 10.1542/peds.2012-3788. Epub 2013 Jul 8.
5
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.
6
Point-counterpoint. Ethics and genomic incidental findings.针锋相对。伦理学与基因组偶然发现
Science. 2013 May 31;340(6136):1047-8. doi: 10.1126/science.1240156. Epub 2013 May 16.
7
Ethical and policy issues in genetic testing and screening of children.儿童基因检测和筛查的伦理和政策问题。
Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.
8
Deciding for a child: a comprehensive analysis of the best interest standard.为孩子做决定:最佳利益标准的综合分析。
Theor Med Bioeth. 2012 Jun;33(3):179-98. doi: 10.1007/s11017-012-9219-z.
9
The best interest standard: both guide and limit to medical decision making on behalf of incapacitated patients.最佳利益标准:既是代表无行为能力患者进行医疗决策的指南,也是限制因素。
J Clin Ethics. 2011 Summer;22(2):134-8.
10
Is it always wrong to perform futile CPR?实施无效的心肺复苏总是错误的吗?
N Engl J Med. 2010 Feb 11;362(6):477-9. doi: 10.1056/NEJMp0908464.

对儿童进行成年期发病疾病的基因检测:家庭利益的限度

Genetic testing of children for diseases that have onset in adulthood: the limits of family interests.

作者信息

Hardart George E, Chung Wendy K

机构信息

Program in Women and Children's Bioethics, and

Department of Pediatrics, Columbia University, New York, New York.

出版信息

Pediatrics. 2014 Oct;134 Suppl 2(Suppl 2):S104-10. doi: 10.1542/peds.2014-1394F.

DOI:10.1542/peds.2014-1394F
PMID:25274875
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4258839/
Abstract

Two recent policy statements, one from the American Academy of Pediatrics and one from the American College of Medical Genetics, reach very different conclusions about the question of whether children should be tested for adult-onset genetic conditions. The American Academy of Pediatrics policy begins with the presumption that genetic testing for children should be driven by the best interest of the child. It recognizes the importance of preserving the child's open future, recommending that genetic testing for adult-onset diseases be deferred. The American College of Medical Genetics, by contrast, recommended testing children for at least some adult conditions, although it should be noted they have recently modified this recommendation. They justified this recommendation by arguing that it, in fact, was in the best interests of the child and family to receive this information. In this article, we analyze these 2 different positions and suggest ways that the seeming conflicts between them might be reconciled.

摘要

美国儿科学会和美国医学遗传学学会近期发布的两份政策声明,对于儿童是否应接受成人发病型遗传病检测这一问题得出了截然不同的结论。美国儿科学会的政策以儿童的最大利益应驱动儿童基因检测这一假设为出发点。它认识到保留儿童开放未来的重要性,建议推迟对成人发病型疾病的基因检测。相比之下,美国医学遗传学学会则建议对儿童进行至少某些成人疾病的检测,不过需要注意的是,他们最近已修改了这一建议。他们为这一建议辩护称,实际上,获取这些信息符合儿童和家庭的最大利益。在本文中,我们分析这两种不同立场,并提出调和它们之间明显冲突的方法。