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Recontact: a survey of current practices and BRCA1/2 testing in Japan

Journal of Human Genetics volume 68, pages 551–557 (2023)Cite this article

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Abstract

Genetic testing advances have enabled the provision of previously unavailable information on the pathogenicity of genetic variants, frequently necessitating the recontact of former patients by clinicians. In Japan, national health insurance coverage was extended to BRCA1/2 testing for the diagnosis of hereditary breast and ovarian cancer for patients who meet certain criteria in 2020, and conditions necessitating recontact were expected to increase. Studies and discussions regarding recontact have been conducted in the U.S. and Europe; however, in Japan, the national discussion around recontact remains undeveloped. We conducted a cross-sectional study by interviewing 73 facilities accredited by the Japanese Organization of Hereditary Breast and Ovarian Cancer regarding the practice of recontacting patients at these facilities. Sixty-six facilities responded that they recontact patients, but only 17 facilities had a protocol for this. The most common reason for recontact was that it could benefit the patient. Facilities that did not recontact stated that they lacked the necessary personnel or services. Most facilities indicated that a recontact system should be implemented in their practice. The increased burden on too few medical personnel, unestablished systems, patient confusion, and the right not to know were cited as barriers to implementing recontact. Although developing recommendations on recontact would be useful for providing equitable healthcare in Japan, there is an urgent need to deepen the discussion on recontacting, as negative opinions about recontacting patients were observed.

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Acknowledgements

We thank the staff of all facilities accredited by the Japanese Organization of Hereditary Breast and Ovarian Cancer who participated in this study. We also thank Dr. Akihiro Sakurai, Sapporo Medical University, Japan, and Dr. Yumiko Kobayashi, Iwate Medical University, Japan, for their insight and suggestions. We would like to thank Editage for English language editing.

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Authors and Affiliations

  1. Genetic Counseling Program, Applied Medical Science, Graduate School of Medical Science, Iwate Medical University, 19-1 Uchimaru, Morioka, Iwate, 020-8505, Japan

    Tomohiro Sakaguchi

  2. Department of Clinical Genetics, Iwate Medical University, 19-1 Uchimaru, Morioka, Iwate, 020-8505, Japan

    Tomoharu Tokutomi, Akiko Yoshida, Kayono Yamamoto, Keiko Obata & Akimune Fukushima

  3. Medical School, University of Exeter, Heavitree Road, Exeter, EX1 2LU, UK

    Daniele Carrieri

  4. Egenis, The Centre for the Study of Life Sciences, University of Exeter, Stocker Road, Exeter, EX4 4PY, UK

    Susan E. Kelly

Authors
  1. Tomohiro Sakaguchi
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  2. Tomoharu Tokutomi
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  3. Akiko Yoshida
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  4. Kayono Yamamoto
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  8. Akimune Fukushima
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Contributions

Conceived and designed the study: TS, TT. Conducted a questionnaire: TS. Analyzed the data and conceived figures and tables: TS, TT, AY. Drafted the manuscript: TS. Revised the manuscript: TS, TT. Contributed to the writing of the manuscript: AY, KY, KO, DC, SEK, AF. All authors have read and agreed to the published version of the manuscript.

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Correspondence to Tomoharu Tokutomi.

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Sakaguchi, T., Tokutomi, T., Yoshida, A. et al. Recontact: a survey of current practices and BRCA1/2 testing in Japan. J Hum Genet 68, 551–557 (2023). https://doi.org/10.1038/s10038-023-01149-x

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