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Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy

Journal of Human Genetics volume 70, pages 33–40 (2025)Cite this article

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Abstract

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.

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Acknowledgements

We would like to thank all the hospital staff members who took the time to respond to our survey. This study was supported by the Japan Ministry of Health, Labour and Welfare (grant numbers: 20AD1001), the Japan Ministry of Education, Culture, Sports, Science and Technology (22K07469), the Japan Agency for Medical Research and Development (AMED) (17kk0305006h0001), and the National Cancer Center Research and Development Fund (31-A-2, 2022-A-07, 2023-A-18).

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Authors and Affiliations

  1. Department of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine, Kyoto, Japan

    Saki Shimada, Takahiro Yamada, Manami Matsukawa, Masanobu Ogawa & Shinji Kosugi

  2. Clinical Genetics Center, Kansai Medical University Hospital, Osaka, Japan

    Saki Shimada

  3. Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan

    Takahiro Yamada & Ichiro Yabe

  4. Secondary Findings Working Group (SFWG), Liaison Council for Core Hospitals for Cancer Genomic Medicine, Tokyo, Japan

    Takahiro Yamada, Manami Matsukawa, Ichiro Yabe, Hiroshi Tada, Katsutoshi Oda, Arisa Ueki, Satomi Higashigawa, Maki Morikawa, Yuki Sato, Akira Hirasawa, Masanobu Ogawa, Tomohiro Kondo, Masahiro Yoshioka, Masashi Kanai & Shinji Kosugi

  5. Clinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan

    Akari Minamoto

  6. Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan

    Manami Matsukawa

  7. Department of Breast and Endocrine Surgical Oncology, Tohoku University Graduate School of Medicine, Sendai, Japan

    Hiroshi Tada

  8. Division of Integrative Genomics, The University of Tokyo, Tokyo, Japan

    Katsutoshi Oda

  9. Center for Medical Genetics, Keio Cancer Center, Keio University School of Medicine, Tokyo, Japan

    Arisa Ueki

  10. Division of Clinical Genetics, Shizuoka Cancer Center, Shizuoka, Japan

    Satomi Higashigawa

  11. Medical Genome Center, Nagoya University Hospital, Nagoya, Japan

    Maki Morikawa

  12. Department of Genetic Counseling, Osaka University Hospital, Osaka, Japan

    Yuki Sato

  13. Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan

    Akira Hirasawa

  14. Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan

    Masanobu Ogawa

  15. Department of Medical Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan

    Tomohiro Kondo, Masahiro Yoshioka, Masashi Kanai & Manabu Muto

  16. Cancer Center, Kansai Medical University Hospital, Osaka, Japan

    Masashi Kanai

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  1. Saki Shimada
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  2. Takahiro Yamada
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  18. Shinji Kosugi
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Correspondence to Takahiro Yamada.

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Shimada, S., Yamada, T., Minamoto, A. et al. Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy. J Hum Genet 70, 33–40 (2025). https://doi.org/10.1038/s10038-024-01294-x

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