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血统检测与遗传咨询实践

Ancestry Testing and the Practice of Genetic Counseling.

作者信息

Kirkpatrick Brianne E, Rashkin Misha D

机构信息

WatershedDNA, LLC, P.O. Box 126, Crozet, VA, 22932, USA.

Icahn School of Medicine at Mount Sinai, New York, NY, USA.

出版信息

J Genet Couns. 2017 Feb;26(1):6-20. doi: 10.1007/s10897-016-0014-2. Epub 2016 Oct 4.

DOI:10.1007/s10897-016-0014-2
PMID:27704392
Abstract

Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically. Roles of the genetic counselor may include assisting clients with the interpretation of and adaptation to these results, as well as advising the companies involved in this sector on the ethical, legal, and social issues associated with testing. This paper reviews the history, fundamentals, intended uses, and unintended consequences of ancestry genetic testing. It also discusses the types of information in an ancestry testing result, situations that might involve a clinical genetic counselor, and the benefits, limitations, and functions that ancestry genetic testing can play in a clinical genetics setting.

摘要

血统检测是一种具有多方面维度的家庭DNA检测;在某些情况下,检测的影响和结果会延伸到健康领域。寻求血统检测的常见原因包括确定客户种族背景的估计、识别基因亲属,以及获取可用于其他目的的原始DNA数据文件。随着血统检测市场的持续增长,以及第三方供应商使普通公众能够分析自己的遗传物质,遗传咨询师的角色可能会发生巨大演变。遗传咨询师的角色可能包括协助客户解读和适应这些结果,以及就与检测相关的伦理、法律和社会问题向该领域的公司提供建议。本文回顾了血统基因检测的历史、基本原理、预期用途和意外后果。它还讨论了血统检测结果中的信息类型、可能涉及临床遗传咨询师的情况,以及血统基因检测在临床遗传学环境中可以发挥的益处、局限性和作用。

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Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees.采用遗传学:成年领养者进行个人基因组检测的动机与结果
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Genetic Counselors in Startup Companies: Redefining the Genetic Counselor Role.
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