The genetic diagnosis and counseling of hereditary cancer syndromes have shifted from specialized centers to become an essential part of oncology practice. Advances in sequencing and companion diagnostics have increased testing opportunities, with BRCA1/2 at the forefront due to its dual role in preventing and treating cancer with PARP inhibitors. In Japan, these developments coincide with a universal insurance system that regulates genetic testing through “notified facilities.” Unlike most single-gene tests under code D006-4, which require ordering by notified facilities, BRCA testing (D006-18) can be initiated by non-notified hospitals if they provide genetic counselling in collaboration with a notified facility. While this framework is intended to safeguard quality, it has created barriers. Only around 25% of BRCA PV-positive patients were referred to notified facilities for counseling and cascade testing. Reasons include physician workload, patient reluctance, and limited referral pathways. Internationally, cascade testing uptake rarely exceeds 40%, reflecting the difficulty of disclosing hereditary risk to relatives. Japan reimburses remote genetic counseling, but only for rare diseases, excluding hereditary breast and ovarian cancer (HBOC). To address this gap, we established a self-funded remote counseling model (“Dr-to-Patient-with-Dr”), linking local hospitals with genetics specialists. This system reduces patient travel burden and supports local clinicians but raises concerns about cost, technical feasibility, and counseling depth. This proceeding reviews Japanese and global experiences, emphasizing systemic and psychosocial barriers. Key lessons include the need to integrate genetic diagnosis into oncology, provide family-centered psychosocial support, and expand innovative models such as remote counseling to improve access.

错误:搜索内容不能为空,请输入英文关键词
错误:关键词超出字数限制,请精简
高级检索

Expanding Opportunities and Evolving Challenges in the Genetic Diagnosis and Genetic Counseling of Hereditary Tumors in Japan

  • Akihiro Sakurai

摘要

The genetic diagnosis and counseling of hereditary cancer syndromes have shifted from specialized centers to become an essential part of oncology practice. Advances in sequencing and companion diagnostics have increased testing opportunities, with BRCA1/2 at the forefront due to its dual role in preventing and treating cancer with PARP inhibitors. In Japan, these developments coincide with a universal insurance system that regulates genetic testing through “notified facilities.” Unlike most single-gene tests under code D006-4, which require ordering by notified facilities, BRCA testing (D006-18) can be initiated by non-notified hospitals if they provide genetic counselling in collaboration with a notified facility. While this framework is intended to safeguard quality, it has created barriers. Only around 25% of BRCA PV-positive patients were referred to notified facilities for counseling and cascade testing. Reasons include physician workload, patient reluctance, and limited referral pathways. Internationally, cascade testing uptake rarely exceeds 40%, reflecting the difficulty of disclosing hereditary risk to relatives. Japan reimburses remote genetic counseling, but only for rare diseases, excluding hereditary breast and ovarian cancer (HBOC). To address this gap, we established a self-funded remote counseling model (“Dr-to-Patient-with-Dr”), linking local hospitals with genetics specialists. This system reduces patient travel burden and supports local clinicians but raises concerns about cost, technical feasibility, and counseling depth. This proceeding reviews Japanese and global experiences, emphasizing systemic and psychosocial barriers. Key lessons include the need to integrate genetic diagnosis into oncology, provide family-centered psychosocial support, and expand innovative models such as remote counseling to improve access.