Shimada Saki, Yamada Takahiro, Minamoto Akari, Matsukawa Manami, Yabe Ichiro, Tada Hiroshi, Oda Katsutoshi, Ueki Arisa, Higashigawa Satomi, Morikawa Maki, Sato Yuki, Hirasawa Akira, Ogawa Masanobu, Kondo Tomohiro, Yoshioka Masahiro, Kanai Masashi, Muto Manabu, Kosugi Shinji
Department of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Clinical Genetics Center, Kansai Medical University Hospital, Osaka, Japan.
J Hum Genet. 2025 Jan;70(1):33-40. doi: 10.1038/s10038-024-01294-x. Epub 2024 Sep 17.
We surveyed the status of the secondary finding (SF) disclosure in comprehensive genome profiling (CGP) in 2020. The situation has changed: increase in the number of hospitals that provide CGP, an update to the Comprehensive Tumor Genomic Profiling: Materials for Review of Secondary Findings (CTGPMRSF), and the addition of a liquid biopsy test, FoundationOne Liquid CDx (F1L). Moreover, the actual situation was unclear because the 2020 survey did not include all designated and cooperative hospitals. Herein, we conducted a questionnaire survey of all designated-core, designated, and cooperative hospitals to identify the current status and challenges concerning SF in the CGP in 2022. A total of 82.1% of the hospitals responded and 77.7% of the response was from cooperative hospitals. Approximately 80% of the hospitals used CTGPMRSF. SF disclosure, confirmatory test implementation, and SF confirmation rates were 12.4%, 31.6%, and 46.6% for FoundationOne CDx (F1CDx), respectively, and 6.8%, 31.8%, and 70.7% for F1L, respectively. The implementation rate of the confirmatory test was substantially higher in hospitals with genetic experts and in hospitals that could conduct confirmatory tests on the same day. Our survey provides insight into how SF is handled in Japan. The percentage of cases leading to confirmatory tests has gradually increased, although challenges such as insurance coverage limitations and varied understanding of SF among patients and healthcare providers persist. With the increasing use of whole-genome analysis, our findings will provide valuable insights into establishing an effective SF disclosure system.
我们调查了2020年综合基因组分析（CGP）中次要发现（SF）披露的现状。情况已经发生了变化：提供CGP的医院数量增加，《综合肿瘤基因组分析：次要发现审查材料》（CTGPMRSF）有了更新，并且增加了一项液体活检检测——FoundationOne Liquid CDx（F1L）。此外，由于2020年的调查没有涵盖所有指定医院和合作医院，实际情况尚不清楚。在此，我们对所有指定核心医院、指定医院和合作医院进行了问卷调查，以确定2022年CGP中关于SF的现状和挑战。共有82.1%的医院做出了回应，其中77.7%的回复来自合作医院。约80%的医院使用CTGPMRSF。FoundationOne CDx（F1CDx）的SF披露率、确证检测实施率和SF确认率分别为12.4%、31.6%和46.6%，F1L的相应比率分别为6.8%、31.8%和70.7%。在有遗传专家的医院以及能够在同一天进行确证检测的医院中，确证检测的实施率显著更高。我们的调查为日本如何处理SF提供了见解。尽管存在保险覆盖范围有限以及患者和医疗服务提供者对SF的理解各异等挑战，但导致进行确证检测的病例百分比已逐渐增加。随着全基因组分析的使用不断增加，我们的研究结果将为建立有效的SF披露系统提供有价值的见解。
