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生物样本库:对遗传咨询师的重要性、影响及机遇

Biobanks: importance, implications and opportunities for genetic counselors.

作者信息

Hawkins Alice K

机构信息

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

出版信息

J Genet Couns. 2010 Oct;19(5):423-9. doi: 10.1007/s10897-010-9305-1. Epub 2010 Aug 3.

Abstract

Biobanks are collections of human biological tissue specimens and related health data. Biobank research hopes to provide novel insights into the genetic component of disease, ultimately leading to a more personalized approach to healthcare. However, biobanks have sparked debate due to the ethical, legal, and social implications surrounding utilization of population samples and data. These controversies include issues of consent, privacy and confidentiality, return of results and data-sharing. This paper provides an overview of the different types and scope of biobanks and an examination of the most pertinent ethical, legal and social considerations surrounding such research, as well as how some of these concerns are being addressed. The paper finishes with a discussion of the relevance of biobanks to the genetic counseling field and concludes that genetic counselors are in a position to make a unique, educated and practical contribution to the ongoing dialogue and direction of biobank research.

摘要

生物样本库是人类生物组织样本及相关健康数据的集合。生物样本库研究希望能为疾病的遗传成分提供新的见解,最终实现更个性化的医疗保健方式。然而,由于围绕人群样本和数据利用的伦理、法律和社会影响,生物样本库引发了争论。这些争议包括同意问题、隐私和保密问题、结果反馈以及数据共享。本文概述了生物样本库的不同类型和范围,审视了此类研究中最相关的伦理、法律和社会考量,以及其中一些问题是如何得到解决的。本文最后讨论了生物样本库与遗传咨询领域的相关性,并得出结论,遗传咨询师能够为生物样本库研究正在进行的对话和方向做出独特、明智且切实的贡献。

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