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Preimplantation genetic testing for monogenic disorders (PGT-M) is a rapidly evolving field that intersects with reproductive medicine, ethics, and genetic counseling. In Japan, the criteria for approving PGT-M cases have been particularly restrictive, focusing on the concept of “severe” hereditary diseases. This chapter reviews the historical background, current status, and ongoing debates surrounding the definition and scope of indications for PGT-M in Japan, with particular attention to hereditary breast and ovarian cancer (HBOC). The discussion also reflects on the societal, clinical, and policy-related factors shaping the interpretation of severity and the future direction of PGT-M eligibility.

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Progress of Discussion on Indications for PGT-M in Japan

  • 章节

  • 发表日期：

    2026年

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  • Aiko Sasaki

摘要

Preimplantation genetic testing for monogenic disorders (PGT-M) is a rapidly evolving field that intersects with reproductive medicine, ethics, and genetic counseling. In Japan, the criteria for approving PGT-M cases have been particularly restrictive, focusing on the concept of “severe” hereditary diseases. This chapter reviews the historical background, current status, and ongoing debates surrounding the definition and scope of indications for PGT-M in Japan, with particular attention to hereditary breast and ovarian cancer (HBOC). The discussion also reflects on the societal, clinical, and policy-related factors shaping the interpretation of severity and the future direction of PGT-M eligibility.