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癌症基因组学背景下多基因检测板检测的心理社会影响

Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics.

作者信息

Hamilton Jada G, Robson Mark E

出版信息

Hastings Cent Rep. 2019 May;49 Suppl 1(Suppl 1):S44-S52. doi: 10.1002/hast.1016.

Abstract

In recent years, with both the development of next-generation sequencing approaches and the Supreme Court decision invalidating gene patents, declining costs have contributed to the emergence of a new model of hereditary cancer genetic testing. Multigene panel testing (or multiplex testing) involves using next-generation sequencing technology to determine the sequence of multiple cancer-susceptibility genes. In addition to high-penetrance cancer-susceptibility genes, multigene panels frequently include genes that are less robustly associated with cancer predisposition. Scientific understanding about associations between many specific moderate-penetrance gene variants and cancer risks is incomplete. The emergence of multigene panel tests has created unique challenges that may have meaningful psychosocial implications. Contrasted with the serial testing process, wherein patients consider the personal and clinical implications of each evaluated gene, with multigene panel testing, patients provide broad consent to whichever genes are included in a particular panel and then, after the test, receive in-depth genetic counseling to clarify the distinct implications of their specific results. Consequently, patients undergoing multigene panel testing may have a less nuanced understanding of the test and its implications, and they may have fewer opportunities to self-select against the receipt of particular types of genetic-risk information. Evidence is conflicting regarding the emotional effects of this testing.

摘要

近年来,随着新一代测序技术的发展以及最高法院做出的基因专利无效判决,成本的下降推动了遗传性癌症基因检测新模式的出现。多基因检测(或多重检测)涉及使用新一代测序技术来确定多个癌症易感基因的序列。除了高外显率癌症易感基因外,多基因检测通常还包括与癌症易感性关联较弱的基因。关于许多特定的中等外显率基因变异与癌症风险之间的关联,科学认识尚不完整。多基因检测的出现带来了独特的挑战,可能产生有意义的心理社会影响。与系列检测过程不同,在系列检测中患者会考虑每个评估基因的个人和临床意义,而在多基因检测中,患者会对特定检测组合中包含的任何基因给予广泛同意,然后在检测后接受深入的遗传咨询,以阐明其具体检测结果的不同含义。因此,接受多基因检测的患者对检测及其影响的理解可能不够细致入微,而且他们自行选择不接受特定类型遗传风险信息的机会可能更少。关于这种检测的情绪影响,证据相互矛盾。

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