Inuzuka Mayuko, Nakamura Seigo
Breast Center, Showa University Hospital.
Gan To Kagaku Ryoho. 2019 Jul;46(7):1109-1113.
Recently, olaparib(brand name: Lynparza Tablets)-a PARP inhibitor-has been approved for national health insurance coverage in Japan as a drug for unresectable or recurrent, BRCA1/2-positive, HER2-negative breast cancer in patients with a history of cancer chemotherapy. The addition of BRCA1/2 genetic testing as a companion diagnostic tool to the health insurance coverage is of considerable significance as a spearhead of health insurance medical care for all different types of hereditary tumors. However, several problems related to this companion diagnostic test have emerged, including the estab- lishment of a genetic counseling system and handling of BRCA1/2 genetic tests performed at the patients' own expense. In addition, the purpose of the companion diagnostic test is to confirm drug indication in a case. However, since the test results include the diagnosis of hereditary tumors, there is also an urgent need to improve the medical care system and social environment for family members of patients with pathological mutations. The use of genetic analysis is widespread in the clinical settings, and genetic medical care is anticipated to advance in the future. Therefore, it would be pivotal to come up with measures against hereditary tumors, such as hereditary breast and ovarian cancer(HBOC)syndrome. In this chapter, we describe the current status and prospects of HBOC medical care, with a particular focus on companion diagnostics.
最近，奥拉帕利（商品名：利普卓片）——一种聚（ADP-核糖）聚合酶（PARP）抑制剂——已在日本被批准纳入国家医保，用于治疗既往接受过癌症化疗、不可切除或复发的、BRCA1/2基因阳性、HER2阴性乳腺癌患者。将BRCA1/2基因检测作为伴随诊断工具纳入医保覆盖范围，作为针对所有不同类型遗传性肿瘤的医保医疗先锋具有相当重要的意义。然而，与此伴随诊断检测相关的几个问题已经出现，包括遗传咨询系统的建立以及对患者自费进行的BRCA1/2基因检测的处理。此外，伴随诊断检测的目的是在病例中确认药物适应症。然而，由于检测结果包括遗传性肿瘤的诊断，对于病理突变患者的家庭成员，也迫切需要改善医疗体系和社会环境。基因分析在临床环境中的应用广泛，预计未来基因医疗将取得进展。因此，提出针对遗传性肿瘤（如遗传性乳腺癌和卵巢癌综合征）的应对措施至关重要。在本章中，我们描述了遗传性乳腺癌和卵巢癌综合征医疗的现状和前景，特别关注伴随诊断。
