Transitioning from anonymous to real-name genetic testing in Japan: Implementation and implications for medical safety.
18 affiliations
- 1Japanese Society for Gene Diagnosis and Therapy, ELSI Committee, Tokyo, Japan. [email protected].
- 2Department of Clinical Genetic Medicine, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University, Okayama, Japan. [email protected].
- 3Department of Clinical Genetic Medicine, Okayama University Hospital, Okayama, Japan. [email protected].
- 4Department of Clinical Genetic Medicine, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama City, Okayama, Japan. [email protected].
- 5Japanese Society for Gene Diagnosis and Therapy, ELSI Committee, Tokyo, Japan.
- 6SRL, Inc, Tokyo, Japan.
- 7Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Japan.
- 8BML, Inc, Tokyo, Japan.
- 9Department of Genomic Medicine, Center Hospital, National Center for Global Health and Medicine, Tokyo, Japan.
- 10Department of Clinical Genetics, University of Tsukuba Hospital, Tsukuba, Japan.
- 11Division of Genetic Diagnostics and Cancer Genome Center, Chiba Cancer Center, Chiba, Japan.
- 12Seed Planning, Inc, Tokyo, Japan.
- 13Department of Pediatrics, Kawasaki Medical School, Kurashiki, Japan.
- 14Gene and Cell Therapy Promotion Center, National Center for Child Health and Development, Tokyo, Japan.
- 15Roche Diagnostics K.K, Tokyo, Japan.
- 16Department of Health Science, Faculty of Sports and Health Science, Daito Bunka University, Saitama, Japan.
- 17Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.
- 18Division of Clinical Genetics, Kanazawa University Hospital, Kanazawa, Japan.
Abstract
Background
Traditionally, genetic testing in Japan has been conducted using coded or pseudonymized identifiers to protect patient privacy. However, the 2022 revision of the Japanese Association of Medical Sciences guidelines emphasized integrating genetic information into routine clinical information-management systems for patient safety. This study aimed to clarify the status and medical safety challenges associated with transitioning to real-name genetic testing in Japan.Methods
A nationwide survey of 149 medical institutions was conducted, receiving 69 responses (46.3%). [Results] University hospitals reported a higher implementation rate of real-name testing (71.1%) than other institutions (41.9%, p = 0.027). Among 62 institutions with evaluable responses regarding coded/pseudonymized workflows, 8 (12.9%) reported an incident and 8 (12.9%) a near-miss. Among 66 evaluable responses regarding real-name workflows, 45 reported no safety issue, 15 no real-name outsourcing, and 6 were uncertain. Excluding the latter two categories left 45 outcome-eligible institutions; none reported an incident. The workflows were not statistically compared because eligibility, exposure opportunity, and outcome ascertainment differed. Qualitative analysis of 14 descriptions revealed vulnerabilities involving manual relinking, transcription errors, and erroneous integration of results into electronic health records. The most frequently cited barrier was the lack of readiness in testing companies' ordering systems (68.3%).Conclusion
These findings identify practical vulnerabilities in workflows requiring manual relinking but do not establish that using patient names independently reduces safety risks. Healthcare providers and testing laboratories should coordinate to standardize patient-identification and information-management procedures while maintaining confidentiality to ensure patient safety as genomic medicine enters routine clinical practice in Japan.
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BibTeX
@article{okazaki2026transitioning,
title = {{Transitioning from anonymous to real-name genetic testing in Japan: Implementation and implications for medical safety.}},
author = {Tetsuya Okazaki and Hiroki Beppu and Sakae Itoga and Toshikazu Yamaguchi and Reiko Arakawa and Miwa Arita and Sana Yokoi and Yayoi Aizawa and Tomoharu Tokutomi and Masayoshi Nakakuni and Miwa Nishida and Kazuhiro Fujita and Takahiro Yamada and Atsushi Watanabe},
journal = {Journal of community genetics},
year = {2026},
month = oct,
doi = {10.1007/s12687-026-00961-0},
url = {https://europepmc.org/article/MED/42905303},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Transitioning from anonymous to real-name genetic testing in Japan: Implementation and implications for medical safety.
AU - Tetsuya Okazaki
AU - Hiroki Beppu
AU - Sakae Itoga
AU - Toshikazu Yamaguchi
AU - Reiko Arakawa
AU - Miwa Arita
AU - Sana Yokoi
AU - Yayoi Aizawa
AU - Tomoharu Tokutomi
AU - Masayoshi Nakakuni
AU - Miwa Nishida
AU - Kazuhiro Fujita
AU - Takahiro Yamada
AU - Atsushi Watanabe
PY - 2026
DA - 2026/10/21
JO - Journal of community genetics
DO - 10.1007/s12687-026-00961-0
UR - https://europepmc.org/article/MED/42905303
AB - Background Traditionally, genetic testing in Japan has been conducted using coded or pseudonymized identifiers to protect patient privacy. However, the 2022 revision of the Japanese Association of Medical Sciences guidelines emphasized integrating genetic information into routine clinical information-management systems for patient safety. This study aimed to clarify the status and medical safety challenges associated with transitioning to real-name genetic testing in Japan.Methods A nationwide survey of 149 medical institutions was conducted, receiving 69 responses (46.3%). [Results] University hospitals reported a higher implementation rate of real-name testing (71.1%) than other institutions (41.9%, p = 0.027). Among 62 institutions with evaluable responses regarding coded/pseudonymized workflows, 8 (12.9%) reported an incident and 8 (12.9%) a near-miss. Among 66 evaluable responses regarding real-name workflows, 45 reported no safety issue, 15 no real-name outsourcing, and 6 were uncertain. Excluding the latter two categories left 45 outcome-eligible institutions; none reported an incident. The workflows were not statistically compared because eligibility, exposure opportunity, and outcome ascertainment differed. Qualitative analysis of 14 descriptions revealed vulnerabilities involving manual relinking, transcription errors, and erroneous integration of results into electronic health records. The most frequently cited barrier was the lack of readiness in testing companies' ordering systems (68.3%).Conclusion These findings identify practical vulnerabilities in workflows requiring manual relinking but do not establish that using patient names independently reduces safety risks. Healthcare providers and testing laboratories should coordinate to standardize patient-identification and information-management procedures while maintaining confidentiality to ensure patient safety as genomic medicine enters routine clinical practice in Japan.
SN - 1868-310X
SN - 1868-6001
ER -