{"title":"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。","authors":"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","doi":"10.1007/s10147-025-02746-w","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":13869,"journal":{"name":"International Journal of Clinical Oncology","volume":" ","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Establishment of a comprehensive set of fact sheets for cancer predisposition genes for medical oncologists practicing cancer genome profiling.\",\"authors\":\"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\",\"doi\":\"10.1007/s10147-025-02746-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":13869,\"journal\":{\"name\":\"International Journal of Clinical Oncology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2025-04-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Clinical Oncology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10147-025-02746-w\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Clinical Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10147-025-02746-w","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}
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.
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.