Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience.
Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience.
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DOI：
10.3389/fgene.2023.1109431
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发表时间：
2023
影响因子：
3.7
通讯作者：
Katapodi, Maria
中科院分区：
文献类型：
--
作者：
Barnoy, Sivia;Dagan, Efrat;Kim, Sue C.;Caiata-Zufferey, Maria;Katapodi, Maria
关键词：
背景：遗传性乳腺癌、卵巢癌和林奇综合征与常见癌症的终生风险增加有关。为HBOC或LS患者的无癌症亲属提供级联基因检测是预防癌症的公共卫生干预措施。然而，很少有人知道从级联测试中获得的信息的效用和价值。本文讨论了在三个国家的国家医疗保健系统：瑞士，韩国和以色列实施级联检测过程中遇到的ELSI。 研究方法：在第五届国际ELSI大会上举办的一个研讨会讨论了在国际CASCADE组群交换数据和经验的基础上在这三个国家实施级联测试的问题。 结果如下：分析的重点是获得遗传服务的模式（基于诊所的筛查与基于人群的筛查），以及启动级联检测的模式（患者介导的传播与提供者介导的检测结果向亲属传播）。每个国家的法律的框架、卫生保健系统的组织和社会文化规范决定了从级联检测中获得的遗传信息的效用和价值。 结论：个人健康利益与公共健康利益的并列产生了与级联检测相关的重大ELSI争议，尽管国家医疗保健/全民覆盖，但这损害了遗传服务的获得以及遗传信息的实用性和价值。
Background: Hereditary breast and ovarian cancer and Lynch syndrome are associated with increased lifetime risk for common cancers. Offering cascade genetic testing to cancer-free relatives of individuals with HBOC or LS is a public health intervention for cancer prevention. Yet, little is known about the utility and value of information gained from cascade testing. This paper discusses ELSI encountered during the implementation of cascade testing in three countries with national healthcare systems: Switzerland, Korea, and Israel. Methods: A workshop presented at the 5th International ELSI Congress discussed implementation of cascade testing in the three countries based on exchange of data and experiences from the international CASCADE cohort. Results: Analyses focused on models of accessing genetic services (clinic-based versus population-based screening), and models of initiating cascade testing (patient-mediated dissemination versus provider-mediated dissemination of testing results to relatives). The legal framework of each country, organization of the healthcare system, and socio-cultural norms determined the utility and value of genetic information gained from cascade testing. Conclusion: The juxtaposition of individual versus public health interests generates significant ELSI controversies associated with cascade testing, which compromise access to genetic services and the utility and value of genetic information, despite national healthcare/universal coverage.
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