We thank Dr. Levada for his thoughtful and insightful commentary on our study examining predictive genetic testing (PT) for hereditary neuromuscular diseases in Japan, particularly those for which no established disease-modifying treatments are currently available 1. We appreciate his careful ethical analysis and the opportunity to further contextualize our findings. As mentioned, three clients in our study were unable to proceed with PT due to the absence of a designated “key person.” We agree that this observation raises important questions regarding equity of access, particularly for clients who are socially isolated or who prefer not to involve family members in their decision-making process. Indeed, it was precisely the gap between established practices and equitable access that motivated us to report these cases transparently and to initiate broader ethical discussion through our study 2. The requirement for a companion (key person) in our protocol was not intended as a gatekeeping mechanism; rather, it reflects long-standing clinical practices in Japan aimed at minimizing psychological harm following the disclosure of PT results. These practices are rooted in Japan's sociocultural context. Historically, genetic conditions have been associated with stigma, and genetic inheritance has often been regarded as a sensitive or stigmatized issue, with limited cultural space for open discussion 3. Introducing PT in such a context therefore required particularly cautious and supportive implementation, including the involvement of a designated “key person.” In addition, unlike in some other countries, reproductive options following disclosure of genetic risk are relatively limited in Japan. Consequently, the assumption that access to genetic information does not necessarily expand personal choices. Taken together, these cultural and structural factors in Japan further underscore the need for a cautious framework that carefully balances the individual's right to know with explicit consideration of potential psychological harm, particularly following positive results. That said, we acknowledge that such safeguards may have unintended consequences. As Dr. Levada appropriately pointed out, rigid protocols can function as structural barriers for certain individuals, and our reported attrition rate may therefore reflect, at least in part, differences in expectations or priorities between institutional protocols and some eligible candidates, rather than a rejection of PT itself. In this regard, we appreciate the discussion of international trends toward greater flexibility, which emphasize autonomy and individualized support; their description of a “Designated Professional Support” strategy is particularly valuable and highlights an ethically sound alternative to reliance on nonprofessional companions. In this context, it is important to note that the recent Guidelines for PT for adult-onset hereditary neuromuscular diseases in Japan, published by the Committee on Medical Genetics, Japanese Society of Neurology 4, describe several recommended conditions for proceeding with PT, including a designated “key person.” However, the guidelines also state that the necessity of each condition should be determined through individualized assessment of the client's situation and that decisions regarding testing should be made accordingly. This position reflects an emerging shift toward flexible, client-centered practice within Japan. We agree that future protocols should move toward a supported decision-making framework, in which patient safety is ensured through intensive professional involvement. However, in Japan, experience with PT itself remains limited, and systematic knowledge regarding professional support models is still scarce 5. Clear role definitions, workforce capacity, and responsibility for crisis intervention following result disclosure have yet to be fully established. Developing such models should therefore be an important challenge for the future, requiring gradual accumulation of clinical experience and institutional readiness. Overall, our findings underscore the need to re-evaluate existing practices and to develop culturally sensitive models that balance beneficence, justice, and respect for autonomy. We thank the author for his constructive contribution to this important discussion and hope that our study may serve as a starting point for further dialog and protocol refinement in PT in Japan. This work was supported by the Japan Atherosclerosis Research Foundation. Data sharing not applicable to this article as no datasets were generated or analysed during the current study.
Makiko Egawa (Thu,) studied this question.