Roden D M, Pulley J M, Basford M A, Bernard G R, Clayton E W, Balser J R, Masys D R
Office of Personalized Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Clin Pharmacol Ther. 2008 Sep;84(3):362-9. doi: 10.1038/clpt.2008.89. Epub 2008 May 21.
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 ( approximately 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 (<0.3 and <0.1%, respectively). The rate of sample accrual is 700-900 samples/week. The advantages of this approach are the rate of sample acquisition and the diversity of phenotypes based on EMRs.
我们的目标是建立一个与源自电子病历（EMR）系统的表型数据相关联的DNA生物样本库。经过大量审查和修订后实施了“退出”模式。该计划包括：（i）开发和维护EMR的去识别镜像，即“合成衍生物”（SD），以及（ii）从废弃血样中提取并与SD相关联的DNA。对患者的调查表明，该概念总体上得到认可，只有少数人（约5%）反对。因此，便于退出的机制包括宣传和修订标准的“治疗同意书”。开发并验证了样本处理算法和去识别程序，以确保错误率可接受（分别<0.3%和<0.1%）。样本积累率为每周700 - 900个样本。这种方法的优点是样本采集率以及基于电子病历的表型多样性。
