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应用公共卫生筛查标准:对于患有结直肠癌的成年人,新生儿普遍筛查与林奇综合征的普遍肿瘤筛查相比如何?

Applying public health screening criteria: how does universal newborn screening compare to universal tumor screening for Lynch syndrome in adults with colorectal cancer?

作者信息

Cragun Deborah, DeBate Rita D, Pal Tuya

机构信息

Department of Cancer Epidemiology, Moffitt Cancer Center, 12902, Magnolia Drive, Tampa, FL, 33612, USA,

出版信息

J Genet Couns. 2015 Jun;24(3):409-20. doi: 10.1007/s10897-014-9769-5. Epub 2014 Oct 18.

Abstract

Institutions have increasingly begun to adopt universal tumor screening (UTS) programs whereby tumors from all newly diagnosed patients with colorectal cancer (CRC) are screened to identify who should be offered germline testing for Lynch syndrome (the most common cause of hereditary CRC). Given limited information about the impact of universal screening programs to detect hereditary disease in adults, we apply criteria used to evaluate public health screening programs and compare and contrast UTS with universal newborn screening (NBS) for the purpose of examining ethical implications and anticipating potential outcomes of UTS. Both UTS and a core set of NBS conditions clearly meet most of the Wilson and Jungner screening criteria. However, many state NBS panels include additional conditions that do not meet several of these criteria, and there is currently insufficient data to confirm that UTS meets some of these criteria. Comparing UTS and NBS with regard to newer screening criteria raises additional issues that require attention for both UTS and NBS. Comparisons also highlight the importance of evaluating the implementation of genomic tests to ensure or improve their effectiveness at reducing morbidity and mortality while minimizing potential harms.

摘要

各机构越来越多地开始采用通用肿瘤筛查(UTS)项目,即对所有新诊断的结直肠癌(CRC)患者的肿瘤进行筛查,以确定哪些人应该接受林奇综合征(遗传性结直肠癌最常见的病因)的胚系检测。鉴于关于通用筛查项目在检测成人遗传性疾病方面影响的信息有限,我们应用用于评估公共卫生筛查项目的标准,并将UTS与通用新生儿筛查(NBS)进行比较和对比,以审视伦理影响并预测UTS的潜在结果。UTS和一组核心的NBS疾病显然都符合威尔逊和荣格纳筛查标准中的大部分。然而,许多州的NBS项目组包括一些不符合其中若干标准的额外疾病,而且目前没有足够的数据来证实UTS符合其中一些标准。将UTS和NBS与更新的筛查标准进行比较会引发其他问题,这些问题对于UTS和NBS都需要加以关注。比较还凸显了评估基因组检测实施情况的重要性,以确保或提高其在降低发病率和死亡率同时将潜在危害降至最低方面的有效性。

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本文引用的文献

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