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基因检测:遗传性癌症综合征检测中的挑战与变化

Genetic Testing: Challenges and Changes in Testing for Hereditary Cancer Syndromes.

作者信息

King Elisabeth, Mahon Suzanne M

机构信息

Texas Oncology.

Saint Louis University.

出版信息

Clin J Oncol Nurs. 2017 Oct 1;21(5):589-598. doi: 10.1188/17.CJON.589-598.

Abstract

BACKGROUND: The practice of genetic testing for hereditary cancer syndromes has changed dramatically in recent years, and patients often approach oncology nurses requesting information about genetic testing.
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OBJECTIVES: This article aims to explore changes in cancer genetics, the role of genetics professionals in providing comprehensive genetic care, and the implications of these new developments in genetics for oncology nurses.
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METHODS: A literature review was conducted and focused on articles about the updating of genetic tests with panel testing, insurance changes, alternative genetic counseling strategies, and direct-to-consumer genetic testing.
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FINDINGS

Oncology nurses play an important role in identifying and referring patients, including those who have tested negative for hereditary susceptibility genes, to genetics professionals. Genetics professionals can assist with insurance issues, interpretation of test results, clarification when a variant of unknown clinical significance is detected, and recommendations for care based on personal and family history and testing results. Oncology nurses can assist families with understanding the limitations of direct-to-consumer genetic testing.

摘要

背景

近年来,遗传性癌症综合征的基因检测实践发生了巨大变化,患者常常向肿瘤护理人员咨询基因检测相关信息。

目的

本文旨在探讨癌症遗传学的变化、遗传学专业人员在提供全面遗传护理中的作用,以及遗传学领域的这些新进展对肿瘤护理人员的影响。

方法

进行了一项文献综述,重点关注有关基因检测更新、组合检测、保险变化、替代遗传咨询策略以及直接面向消费者的基因检测的文章。

研究结果

肿瘤护理人员在识别患者并将其转介给遗传学专业人员方面发挥着重要作用,包括那些遗传性易感基因检测呈阴性的患者。遗传学专业人员可以协助处理保险问题、解读检测结果、在检测到临床意义不明的变异时进行说明,以及根据个人和家族病史及检测结果提供护理建议。肿瘤护理人员可以帮助家庭了解直接面向消费者的基因检测的局限性。

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