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遗传学与生物伦理学:自 1969 年以来我们思维的转变。

Genetics and bioethics: how our thinking has changed since 1969.

机构信息

Professor Emeritus, Kennedy Institute of Ethics, Department of Philosophy, Georgetown University, Washington, DC 20057, USA.

出版信息

Theor Med Bioeth. 2012 Feb;33(1):83-95. doi: 10.1007/s11017-012-9210-8.

DOI:10.1007/s11017-012-9210-8
PMID:22270712
Abstract

In 1969, the field of human genetics was in its infancy. Amniocentesis was a new technique for prenatal diagnosis, and a newborn genetic screening program had been established in one state. There were also concerns about the potential hazards of genetic engineering. A research group at the Hastings Center and Paul Ramsey pioneered in the discussion of genetics and bioethics. Two principal techniques have emerged as being of enduring importance: human gene transfer research and genetic testing and screening. This essay tracks the development and use of these techniques and considers the ethical issues that they raise.

摘要

1969 年,人类遗传学领域还处于起步阶段。羊膜穿刺术是一种新的产前诊断技术,一个州已经建立了新生儿遗传筛查计划。人们还对基因工程的潜在危害表示担忧。黑斯廷斯中心和保罗·拉姆齐的一个研究小组率先讨论了遗传学和生物伦理学。两种主要的技术已经被证明具有持久的重要性:人类基因转移研究和基因测试和筛查。本文跟踪了这些技术的发展和应用,并考虑了它们所引发的伦理问题。

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本文引用的文献

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Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis.使用游离胎儿 DNA 进行非侵入性胎儿性别鉴定:系统评价和荟萃分析。
JAMA. 2011 Aug 10;306(6):627-36. doi: 10.1001/jama.2011.1114.
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Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011.非整倍体筛查:2011年1月,一个委员会代表国际产前诊断学会理事会发表的立场声明。
Prenat Diagn. 2011 Jun;31(6):519-22. doi: 10.1002/pd.2730.
3
State-of-the-art gene-based therapies: the road ahead.
孕周与因胎儿异常而选择终止妊娠(这些异常与新生儿存活不相容)之间的关联。
Einstein (Sao Paulo). 2016 Jul-Sep;14(3):311-316. doi: 10.1590/S1679-45082016AO3721.
基于基因的最先进疗法:前路漫漫。
Nat Rev Genet. 2011 May;12(5):316-28. doi: 10.1038/nrg2971. Epub 2011 Apr 6.
4
Secretary's Advisory Committee on Heritable Disorders in Newborns and Children response to the President's Council on Bioethics report: the changing moral focus of newborn screening.新生儿及儿童遗传性疾病问题秘书咨询委员会对总统生物伦理委员会报告的回应:新生儿筛查中不断变化的道德焦点
Genet Med. 2011 Apr;13(4):301-4. doi: 10.1097/GIM.0b013e318210655d.
5
Carrier testing for severe childhood recessive diseases by next-generation sequencing.下一代测序技术在严重儿童隐性疾病中的携带者检测
Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.
6
Molecular technologies open new clinical genetic vistas.分子技术为临床遗传学开辟了新的前景。
Sci Transl Med. 2011 Jan 12;3(65):65ps2. doi: 10.1126/scitranslmed.3002064.
7
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.母体外周血游离 DNA 测序揭示胎儿全基因组遗传和突变特征。
Sci Transl Med. 2010 Dec 8;2(61):61ra91. doi: 10.1126/scitranslmed.3001720.
8
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Hematol Oncol Clin North Am. 2010 Oct;24(5):837-59. doi: 10.1016/j.hoc.2010.06.006.
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An overview of newborn screening.新生儿筛查概述。
J Dev Behav Pediatr. 2010 Sep;31(7):622-31. doi: 10.1097/DBP.0b013e3181eedf01.
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