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mutations: Implications of genetic testing in ovarian cancer.基因突变:在卵巢癌基因检测中的意义。
Indian J Cancer. 2022 Mar;59(Supplement):S56-S67. doi: 10.4103/ijc.IJC_1394_20.
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The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care-A Systematic Review.在常规癌症护理中实施主流种系基因检测的可行性——一项系统评价
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Psychological impact of comprehensive tumor genomic profiling results for advanced cancer patients.晚期癌症患者全面肿瘤基因组分析结果的心理影响
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BRCA Mutations in Prostate Cancer: Assessment, Implications and Treatment Considerations.BRCA 基因突变与前列腺癌:评估、影响及治疗策略考量。
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Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis.实现卵巢癌女性的普遍基因评估:我们做到了吗?系统评价和荟萃分析。
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Mainstreaming informed consent for genomic sequencing: A call for action.将基因组测序知情同意纳入主流:行动呼吁。
Eur J Cancer. 2021 May;148:405-410. doi: 10.1016/j.ejca.2021.02.029. Epub 2021 Mar 27.
9
Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre.主流的乳腺癌患者基因检测:来自帕克维尔家族癌症中心的早期经验。
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Next-Generation Sequencing in Clinical Practice: Is It a Cost-Saving Alternative to a Single-Gene Testing Approach?临床实践中的下一代测序:它是单基因检测方法的一种节省成本的替代方案吗?
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癌症患者基因检测前后基因检测及知情同意的意义。

Implications of genetic testing and informed consent before and after genetic testing in individuals with cancer.

作者信息

Kumar Priyanka, Benjamin David J, Darabi Sourat, Kloecker Goetz, Rezazadeh Kalebasty Arash

机构信息

Department of Hematology and Medical Oncology, Harbor-UCLA Medical Center, Torrance, CA 90502, United States.

Department of Medical Oncology, Hoag Family Cancer Institute, Newport Beach, CA 92663, United States.

出版信息

World J Clin Oncol. 2024 Aug 24;15(8):975-981. doi: 10.5306/wjco.v15.i8.975.

DOI:10.5306/wjco.v15.i8.975
PMID:39193166
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11346064/
Abstract

Recent advancements in next generation sequencing have allowed for genetic information become more readily available in the clinical setting for those affected by cancer and by treating clinicians. Given the lack of access to geneticists, medical oncologists and other treating physicians have begun ordering and interpreting genetic tests for individuals with cancer through the process of "mainstreaming". While this process has allowed for quicker access to genetic tests, the process of "mainstreaming" has also brought several challenges including the dissemination of variants of unknown significance results, ordering of appropriate tests, and accurate interpretation of genetic results with appropriate follow-up testing and interventions. In this editorial, we seek to explore the process of informed consent of individuals before obtaining genetic testing and offer potential solutions to optimize the informed consent process including categorization of results as well as a layered consent model.

摘要

下一代测序技术的最新进展使癌症患者及其治疗临床医生能够在临床环境中更轻松地获取遗传信息。由于缺乏遗传学家,医学肿瘤学家和其他治疗医生已开始通过“主流化”过程为癌症患者订购和解读基因检测。虽然这一过程使人们能够更快地进行基因检测,但“主流化”过程也带来了一些挑战,包括意义未明变异结果的传播、适当检测的订购以及通过适当的后续检测和干预对基因结果进行准确解读。在这篇社论中,我们试图探讨在进行基因检测之前个体的知情同意过程,并提供优化知情同意过程的潜在解决方案,包括结果分类以及分层同意模型。