Development of a large-scale de-identified DNA biobank to enable personalized medicine
Development of a large-scale de-identified DNA biobank to enable personalized medicine
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DOI：
10.1038/clpt.2008.89
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发表时间：
2008-09-01
影响因子：
6.7
通讯作者：
Masys, D. R.
中科院分区：
文献类型：
--
作者：
Roden, D. M.;Pulley, J. M.;Masys, D. R.
我们的目标是建立一个DNA生物库，与来自电子病历（EMR）系统的表型数据相关联。经过大量审查和修订后，采用了“选择退出”模式。该计划包括（i）开发和维护电子病历的去识别镜像，即“合成衍生物”（SD）和（ii）从丢弃的血液样本中提取并与SD相关联的DNA。对病人的调查表明，这一概念得到普遍接受，只有少数人（约5%）反对，因此，促进选择退出的机制包括宣传和修订标准的“同意治疗”表格。制定并验证了样本处理算法和去识别程序，以确保可接受的错误率（
Our objective was to develop a DNA biobank linked to phenotypic data derived from an electronic medical record (EMR) system. An "opt-out" model was implemented after significant review and revision. The plan included (i) development and maintenance of a de-identified mirror image of the EMR, namely, the "synthetic derivative" (SD) and (ii) DNA extracted from discarded blood samples and linked to the SD. Surveys of patients indicated general acceptance of the concept, with only a minority (similar to 5%) opposing it. As a result, mechanisms to facilitate opt-out included publicity and revision of a standard "consent to treatment" form. Algorithms for sample handling and procedures for de-identification were developed and validated in order to ensure acceptable error rates (