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Background: Many kinds of hereditary cancers are inherited with a 50% chance of autosomal dominant transmission. In several countries, mainly in Europe and North America, prenatal diagnosis (PND) and preimplantation genetic testing for monogenic disorders (PGT-M) are recognized as reproductive options for individual with hereditary cancers. However, there are no reports of PGT-M for hereditary cancer being performed in Japan at this time, and there are few reports on the awareness of PGT-M among medical professionals specializing in oncology. Objective: This study aimed to survey the awareness and perspectives regarding reproductive medical technologies, particularly PGT-M, among healthcare professionals affiliated with cancer care facilities. Based on these results, we identified and discussed issues related to the provision of PGT-M information. Participants and Methods: An Internet-based questionnaire survey was conducted among medical professionals affiliated with the Cancer Institute Hospital Ariake and its affiliated research institute, a specialized cancer care facility. Results: Of 509 survey participants, 499 consented to participate. Among the respondents, 380 (76%) were aware of PND, 99 (20%) had heard of it, and 20 (4%) had never heard about it. In contrast, 36 (7%) were aware of the PGT-M, and 71 (14%) had heard of it. In response to the question “Do you think there are people diagnosed with hereditary cancer who would like to undergo PGT-M/PND in Japan?” more than 90% of the respondents answered “Yes, I think there are” or “I think there are people who would like to hear an explanation.” Discussion: The discrepancy  in awareness of PGT-M and PND among healthcre professionals  may stem from varying opportunities to access information. In Japan, the target diseases or conditions for PGT-M are limited, and oncology healthcare providers have insufficient opportunities to obtain information. In the future, oncology healthcare professionals  will acquire the knowledge necessary to provide information about PGT-M and refer patients to specialists.

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Social Challenges of Preimplantation Genetic Testing for Monogenic Disorders (PGT -M)in HBOC and Medical Professional Recognition

  • 章节

  • 发表日期：

    2025年

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  • Hiromi Arakawa,
  • Arisa Ueki

摘要

Background: Many kinds of hereditary cancers are inherited with a 50% chance of autosomal dominant transmission. In several countries, mainly in Europe and North America, prenatal diagnosis (PND) and preimplantation genetic testing for monogenic disorders (PGT-M) are recognized as reproductive options for individual with hereditary cancers. However, there are no reports of PGT-M for hereditary cancer being performed in Japan at this time, and there are few reports on the awareness of PGT-M among medical professionals specializing in oncology. Objective: This study aimed to survey the awareness and perspectives regarding reproductive medical technologies, particularly PGT-M, among healthcare professionals affiliated with cancer care facilities. Based on these results, we identified and discussed issues related to the provision of PGT-M information. Participants and Methods: An Internet-based questionnaire survey was conducted among medical professionals affiliated with the Cancer Institute Hospital Ariake and its affiliated research institute, a specialized cancer care facility. Results: Of 509 survey participants, 499 consented to participate. Among the respondents, 380 (76%) were aware of PND, 99 (20%) had heard of it, and 20 (4%) had never heard about it. In contrast, 36 (7%) were aware of the PGT-M, and 71 (14%) had heard of it. In response to the question “Do you think there are people diagnosed with hereditary cancer who would like to undergo PGT-M/PND in Japan?” more than 90% of the respondents answered “Yes, I think there are” or “I think there are people who would like to hear an explanation.” Discussion: The discrepancy  in awareness of PGT-M and PND among healthcre professionals  may stem from varying opportunities to access information. In Japan, the target diseases or conditions for PGT-M are limited, and oncology healthcare providers have insufficient opportunities to obtain information. In the future, oncology healthcare professionals  will acquire the knowledge necessary to provide information about PGT-M and refer patients to specialists.