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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.

DOI:10.1007/s10897-014-9769-5
PMID:25323653
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4402101/
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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Fostering caring relationships: Suggestions to rethink liberal perspectives on the ethics of newborn screening.培养关爱关系:关于重新思考新生儿筛查伦理自由主义观点的建议。
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本文引用的文献

1
Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through.比较通用的林奇综合征肿瘤筛查项目,以评估实施策略与患者后续跟进之间的关联。
Genet Med. 2014 Oct;16(10):773-82. doi: 10.1038/gim.2014.31. Epub 2014 Mar 20.
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Impact of age cutoffs on a lynch syndrome screening program.年龄截断对林奇综合征筛查计划的影响。
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Current Lynch syndrome tumor screening practices: a survey of genetic counselors.当前林奇综合征肿瘤筛查实践:遗传咨询师调查
J Genet Couns. 2014 Feb;23(1):38-47. doi: 10.1007/s10897-013-9603-5. Epub 2013 May 15.
5
Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy.公众对脊髓性肌萎缩症新生儿筛查试点研究的态度。
Am J Med Genet A. 2013 Apr;161A(4):679-86. doi: 10.1002/ajmg.a.35756. Epub 2013 Feb 26.
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Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center.在一家大型学术医疗中心实施普遍的微卫星不稳定性和免疫组织化学筛选,以诊断林奇综合征。
J Clin Oncol. 2013 Apr 1;31(10):1336-40. doi: 10.1200/JCO.2012.45.1674. Epub 2013 Feb 11.
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Distress in unaffected individuals who decline, delay or remain ineligible for genetic testing for hereditary diseases: a systematic review.未受影响的个体在拒绝、延迟或不符合遗传性疾病基因检测条件时的困扰:系统评价。
Psychooncology. 2013 Sep;22(9):1930-45. doi: 10.1002/pon.3235. Epub 2012 Dec 12.
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Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results.美国癌症项目中结直肠肿瘤的反射免疫组织化学和微卫星不稳定性检测用于林奇综合征及异常结果的随访。
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