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沟通障碍基因检测的伦理和社会影响。

Ethical and social implications of genetic testing for communication disorders.

作者信息

Arnos Kathleen S

机构信息

Department of Biology, Gallaudet University, 800 Florida Avenue, NE, Washington, DC 20002, USA.

出版信息

J Commun Disord. 2008 Sep-Oct;41(5):444-57. doi: 10.1016/j.jcomdis.2008.03.001. Epub 2008 Mar 25.

Abstract

UNLABELLED

Advances in genetics and genomics have quickly led to clinical applications to human health which have far-reaching consequences at the individual and societal levels. These new technologies have allowed a better understanding of the genetic factors involved in a wide range of disorders. During the past decade, incredible progress has been made in the identification of genes involved in the normal process of hearing. The resulting clinical applications have presented consumers with new information and choices. Many of the same gene identification techniques are increasingly being applied to the investigation of complex disorders of speech and language. In parallel with gene identification, studies of the legal, ethical and psychosocial impacts of the clinical application of these advances and their influence on specific behaviors of individuals with communication disorders are paramount, but often lag behind. These studies will help to ensure that new technologies are introduced into clinical practice in a responsible manner.

LEARNING OUTCOMES

As a result of this activity, the participant will be able to (1) explain the differences between Mendelian and complex forms of inheritance and why these differences complicate the ethical impact of genetic testing, (2) explain how publicly funded genome research through the Human Genome Project, the International HapMap Project and others have examined the ethical, legal and social implications of genome research, (3) list some of the ethical complexities of prenatal, newborn and predictive testing for various genetic disorders and (4) discuss the importance of evidence-based practice to the development of public policy for the introduction and clinical use of genetic tests.

摘要

未标注

遗传学和基因组学的进展迅速带来了对人类健康的临床应用,这些应用在个人和社会层面都产生了深远影响。这些新技术使人们能够更好地理解各种疾病所涉及的遗传因素。在过去十年中,在识别参与正常听力过程的基因方面取得了惊人进展。由此产生的临床应用为消费者提供了新的信息和选择。许多相同的基因识别技术越来越多地应用于言语和语言复杂障碍的研究。与基因识别并行,对这些进展的临床应用的法律、伦理和心理社会影响及其对沟通障碍个体特定行为的影响的研究至关重要,但往往滞后。这些研究将有助于确保新技术以负责任的方式引入临床实践。

学习成果

通过本活动,参与者将能够(1)解释孟德尔遗传和复杂遗传形式之间的差异以及为什么这些差异使基因检测的伦理影响变得复杂,(2)解释通过人类基因组计划、国际人类基因组单体型图计划及其他项目进行的公共资助基因组研究如何审视基因组研究的伦理、法律和社会影响,(3)列出针对各种遗传疾病的产前、新生儿和预测性检测的一些伦理复杂性,以及(4)讨论循证实践对制定基因检测引入和临床使用的公共政策的重要性。

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本文引用的文献

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Defining purpose: a key step in genetic test evaluation.
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Medicine. The future of personal genomics.医学。个人基因组学的未来。
Science. 2007 Sep 21;317(5845):1687. doi: 10.1126/science.1147475.
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Use of array-based technology in the practice of medical genetics.
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The diploid genome sequence of an individual human.某个人类个体的二倍体基因组序列。
PLoS Biol. 2007 Sep 4;5(10):e254. doi: 10.1371/journal.pbio.0050254.
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Clinical aspects of hereditary hearing loss.遗传性听力损失的临床方面
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