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将生物银行研究系统的投入、分析和产出进行映射,以确定偶然发现和潜在返回给参与者的个体研究结果的来源。

Mapping the inputs, analyses, and outputs of biobank research systems to identify sources of incidental findings and individual research results for potential return to participants.

机构信息

Department of Educational Psychology, University of Minnesota, Minneapolis, Minnesota, USA.

出版信息

Genet Med. 2012 Apr;14(4):385-92. doi: 10.1038/gim.2011.69. Epub 2012 Mar 1.

Abstract

Progress in the debate over returning incidental findings (IFs) and individual research results (IRRs) to research participants who provide specimens and data to biobanks in genetic and genomic research requires a new tool to allow comparison across heterogeneous biobank research systems and in-depth analysis of the sources and types of findings generated for potential return. This article presents a new visual mapping tool to allow systematic and standardized depiction of (i) the specimens initially collected, (ii) the materials and data sets then created, (iii) the analyses then performed, and finally (iv) the genetic and genomic results generated, including potential IFs and IRRs. For any individual biobank research system, this sequence of four maps can be created to anticipate the sources and types of IFs and IRRs to be generated, to plan how to handle them, and then to manage them responsibly over time. We discuss how this four-map tool was created and describe its application to four national biobank systems, thereby demonstrating that this tool can provide a common platform to visualize biobank content, anticipate how IFs and IRRs will arise in a biobank research context, and inform policy development.

摘要

在遗传和基因组研究中,关于向提供标本和数据的研究参与者返还偶然发现(IFs)和个体研究结果(IRRs)的争论取得了进展,这需要一种新工具来允许对异质生物库研究系统进行比较,并深入分析为潜在返还而生成的发现的来源和类型。本文介绍了一种新的可视化映射工具,以允许系统和标准化地描述(i)最初收集的标本,(ii)然后创建的材料和数据集,(iii)然后执行的分析,最后(iv)生成的遗传和基因组结果,包括潜在的 IFs 和 IRRs。对于任何单个生物库研究系统,都可以创建这四个图的序列,以预测将要生成的 IFs 和 IRRs 的来源和类型,规划如何处理它们,然后随着时间的推移负责任地管理它们。我们讨论了如何创建这个四图工具,并描述了它在四个国家生物库系统中的应用,从而证明该工具可以为可视化生物库内容提供一个共同的平台,预测在生物库研究环境中会出现哪些 IFs 和 IRRs,并为政策制定提供信息。

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