为医学肿瘤学家建立一套全面的癌症易感基因概况表,用于癌症基因组分析。

IF 2.4 3区 医学 Q3 ONCOLOGY
Manami Matsukawa, Chikako Tomozawa, Yoshiaki Nakamura, Takao Fujisawa, Kaori Kimura, Yumie Hiraoka, Riu Yamashita, Shinji Kosugi, Akihiro Sakurai, Issei Imoto, Masakazu Nishigaki, Makoto Hirata, Takeshi Kuwata, Takayuki Yoshino
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引用次数: 0

摘要

背景:全面基因组分析(CGP)在全球范围内广泛开展,增加了肿瘤内科医生在知情同意和结果返回时解释癌症易感性的机会。肿瘤内科医生如何就(疑似)癌症易感基因进行沟通,是将患者转介到遗传服务机构进行咨询的关键因素。在这项研究中,我们编写了一套癌症易感基因概况介绍,以支持肿瘤内科医生在日本全国癌症基因组筛查项目 MONSTAR-SCREEN-2 研究中的实践:方法:由临床遗传学家、遗传咨询师、生物信息学家和肿瘤内科医生组成的遗传专家委员会起草了概况介绍,外部遗传专家对其要素和内容进行了审核。概况介绍完成一年后进行了概况介绍评估调查,并分发给国立癌症中心东医院的肿瘤内科医生:结果:概况介绍的内容包括疾病概述、遗传、家庭影响、终生风险和监测。在评估调查中,83.3% 的受访者将其评为 "有用"。值得注意的是,"什么是遗传咨询"(100%)和 "终生风险"(94.4%)部分获得了很高的评价:我们的研究表明,遗传专家委员会编制的概况介绍可帮助肿瘤内科医生解释 CGP 结果,并将患者与遗传服务联系起来。它还可作为一种教育资源,需要定期更新,并与指南的修订保持一致。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Establishment of a comprehensive set of fact sheets for cancer predisposition genes for medical oncologists practicing cancer genome profiling.

Background: Comprehensive genomic profiling (CGP) is widely performed worldwide, increasing opportunities for medical oncologists to explain cancer predisposition at the time of informed consent and return of results. How medical oncologists communicate about (suspected) cancer predisposition genes is a key factor in referring patients for consultation with genetic services. In this study, we developed a set of fact sheets on cancer predisposition genes to support medical oncologists in their practice under the nationwide cancer genome screening project MONSTAR-SCREEN-2 study in Japan.

Methods: The Genetic Specialist Committee, comprising clinical geneticists, genetic counselors, bioinformaticians, and medical oncologists, drafted the fact sheet and external Genetic Experts reviewed its elements and contents. A fact sheet evaluation survey was conducted one year after the fact sheet was completed and distributed to medical oncologists at the National Cancer Center Hospital East.

Results: The content of the fact sheet included an overview of diseases, inheritance, family impact, lifetime risk, and surveillance. In the evaluation survey, 83.3% of respondents rated it as "useful." Notably, the sections "What is genetic counseling" (100%) and "Lifetime risk" (94.4%) received high ratings.

Conclusion: Our study suggests that a fact sheet developed by the Genetic Specialist Committee may help medical oncologists explain CGP results and connect patients to genetic services. It also functions as an educational resource that requires periodic updates and is in line with revisions to the guidelines.

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来源期刊
CiteScore
6.80
自引率
3.00%
发文量
175
审稿时长
2 months
期刊介绍: The International Journal of Clinical Oncology (IJCO) welcomes original research papers on all aspects of clinical oncology that report the results of novel and timely investigations. Reports on clinical trials are encouraged. Experimental studies will also be accepted if they have obvious relevance to clinical oncology. Membership in the Japan Society of Clinical Oncology is not a prerequisite for submission to the journal. Papers are received on the understanding that: their contents have not been published in whole or in part elsewhere; that they are subject to peer review by at least two referees and the Editors, and to editorial revision of the language and contents; and that the Editors are responsible for their acceptance, rejection, and order of publication.
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