Inclusion of pediatric samples in an opt-out biorepository linking DNA to de-identified medical records: pediatric BioVU.

Inclusion of pediatric samples in an opt-out biorepository linking DNA to de-identified medical records: pediatric BioVU.
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DOI:
10.1038/clpt.2012.230
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发表时间:
2013-02
影响因子:
6.7
通讯作者:
Roden, D. M.
Roden, D. M.
中科院分区:
医学2区
文献类型:
--
作者:
McGregor, T. L.;Van Driest, S. L.;Brothers, K. B.;Bowton, E. A.;Muglia, L. J.;Roden, D. M.

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Vanderbilt DNA存储库BioVU将剩余临床血液样本的DNA与未识别的电子医疗记录联系起来。在启动成人样本采集后,儿科推广需要考虑儿科特有的伦理问题,并实施专门的DNA提取方法。在儿科样本收集的第一年,超过11000份样本来自18岁以下的人。我们将BioVU的儿科队列与范德比尔特大学医学中心的整个儿科人口进行了比较,发现了相似的人口统计特征;然而,BioVU队列的选定疾病、药物暴露和实验室检测的比率更高,显示出严重或慢性疾病的丰富代表性。这种不平衡的样本积累可能会加速一些队列的研究,但也可能限制对相对良性条件的研究以及未受影响和无偏见的对照样本的收益。BioVU代表了儿科DNA生物库的可行模式,但涉及到针对儿科人群的伦理和实际考虑。
The Vanderbilt DNA repository, BioVU, links DNA from leftover clinical blood samples to de-identified electronic medical records. After initiating adult sample collection, pediatric extension required consideration of ethical concerns specific to pediatrics and implementation of specialized DNA extraction methods. In the first year of pediatric sample collection, over 11,000 samples were included from individuals younger than 18 years. We compared the pediatric BioVU cohort to the overall Vanderbilt University Medical Center pediatric population and found similar demographic characteristics; however, the BioVU cohort has higher rates of select diseases, medication exposures, and laboratory testing, demonstrating enriched representation of severe or chronic disease. This unbalanced sample accumulation may accelerate research of some cohorts, but also may limit study of relatively benign conditions and the accrual of unaffected and unbiased control samples. BioVU represents a feasible model for pediatric DNA biobanking but involves both ethical and practical considerations specific to the pediatric population.
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