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Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

Journal of Human Genetics volume 65, pages 1045–1053 (2020)Cite this article

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Abstract

The management of secondary findings (SFs), which are beyond the intended purpose of the analysis, from clinical comprehensive genomic analysis using next generation sequencing (NGS) presents challenges. Policy statements regarding their clinical management have been announced in Japan and other countries. In Japan, however, the current status of and attitudes of clinical genetics professionals toward reporting them are unclear. We conducted a questionnaire survey of clinical genetics professionals at two time points (2013 and 2019) to determine the enforcement of the SF management policy in cases of comprehensive genetic analysis of intractable diseases and clinical cancer genome profiling testing. According to the survey findings, 40% and 70% of the respondents stated in the 2013 and 2019 surveys, respectively, that they had an SF policy in the field of intractable diseases, indicating that SF policy awareness in Japan has changed significantly in recent years. Furthermore, a total of 80% of respondents stated that their facility had established a policy for clinical cancer genome profiling testing in the 2019 survey. In both surveys, the policies included the selection criteria for genes to be disclosed and the procedure to return SFs, followed by recommendations and proposals regarding SFs in Japan and other countries. To create a better list of the genes to be disclosed, further examination is needed considering the characteristics of each analysis.

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Acknowledgements

We would like to thank all those who have assisted in the questionnaire survey and received the guidance and support of clinical geneticists and certified genetic counselors. We would like to thank Editage (www.editage.com) for English language editing. This study was supported by Japan Agency for Medical Research and Development, AMED, under Grant Number 17kk0305006h0001.

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Authors and Affiliations

  1. Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto, Japan

    Mio Tsuchiya, Takahiro Yamada, Hiromi Murakami & Shinji Kosugi

  2. The Social, Ethical and Legal Issues Committee, Japanese Society for Genetic Counseling, Tokyo, Japan

    Takahiro Yamada, Rina Akaishi, Haruka Hamanoue, Akira Hirasawa, Maki Hyodo, Issei Imoto, Tomoki Kosho, Kenji Kurosawa, Hiromi Murakami, Kaname Nakatani, Fumio Nomura, Aiko Sasaki, Kenji Shimizu, Mariko Tamai, Hiroshi Umemura, Atsushi Watanabe, Akiko Yoshida, Hiroshi Yoshihashi, Junko Yotsumoto & Shinji Kosugi

  3. Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan

    Rina Akaishi & Aiko Sasaki

  4. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan

    Haruka Hamanoue

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

    Akira Hirasawa

  6. Department of Obstetrics and Gynecology, Hiroshima University Graduate School of Medicine, Hiroshima, Japan

    Maki Hyodo

  7. Department of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya, Japan

    Issei Imoto

  8. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan

    Tomoki Kosho & Mariko Tamai

  9. Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan

    Kenji Kurosawa

  10. Central Laboratory, Mie University Hospital, Tsu, Japan

    Kaname Nakatani

  11. Divisions of Clinical Mass Spectrometry and Clinical Genetics, Chiba University Hospital, Chiba, Japan

    Fumio Nomura

  12. Division of Medical Genetics, Shizuoka Children’s Hospital, Shizuoka, Japan

    Kenji Shimizu

  13. Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan

    Hiroshi Umemura

  14. Division of Clinical Genetics, Kanazawa University Hospital, Kanazawa, Japan

    Atsushi Watanabe

  15. Laboratory for Retinal Regeneration, RIKEN, Center for Biosystems Dynamics Research, Kobe, Japan

    Akiko Yoshida

  16. Department of Medical Genetics, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

    Hiroshi Yoshihashi

  17. International University of Health and Welfare Graduate School, Tokyo, Japan

    Junko Yotsumoto

Authors
  1. Mio Tsuchiya
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  2. Takahiro Yamada
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  3. Rina Akaishi
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  7. Issei Imoto
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  11. Kaname Nakatani
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  12. Fumio Nomura
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  13. Aiko Sasaki
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  14. Kenji Shimizu
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  15. Mariko Tamai
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  16. Hiroshi Umemura
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  17. Atsushi Watanabe
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  18. Akiko Yoshida
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  19. Hiroshi Yoshihashi
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  20. Junko Yotsumoto
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  21. Shinji Kosugi
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Correspondence to Takahiro Yamada.

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Tsuchiya, M., Yamada, T., Akaishi, R. et al. Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan. J Hum Genet 65, 1045–1053 (2020). https://doi.org/10.1038/s10038-020-0802-2

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