ArticleJournal of community genetics2026
Transitioning from anonymous to real-name genetic testing in Japan: Implementation and implications for medical safety.
Article in Journal of community genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
14 authors.
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Abstract
backgroundTraditionally, 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.
methodsA 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%).
conclusionThese 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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