内容紹介
Summary
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 establishment 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.
要旨
昨今わが国において,癌化学療法歴のあるBRCA1/2遺伝子変異陽性かつHER2陰性の手術不能または再発乳癌の治療薬として,PARP阻害薬の一つであるolaparib(商品名リムパーザ錠)が保険収載された。BRCA1/2遺伝学的検査がコンパニオン診断として保険収載されたことは,遺伝性腫瘍全般に対する保険診療の先駆けとしてたいへん意義がある。しかしながら,このコンパニオン診断に関連し,遺伝カウンセリング体制の整備,自費診療で行ったBRCA1/2遺伝学的検査の扱いなど複数の問題が浮上している。また,コンパニオン診断の目的そのものは対象となる薬剤の適応確認ではあるが,その結果には遺伝性腫瘍の診断が付随するため,病的変異を有する家系の血縁者に対する診療体制および社会的環境の整備も急務である。遺伝子解析が臨床現場に普及し,今後より広く遺伝診療が進んでいくことが予測される現在,遺伝性乳癌卵巣癌(hereditary breast and ovarian cancer: HBOC)をはじめとする遺伝性腫瘍への対策を検討していくことの重要性はさらに高まると考えられる。本稿においては,HBOC診療の現状と展望に関する見解をコンパニオン診断に焦点を当てながら述べる。
目次
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 establishment 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.
要旨
昨今わが国において,癌化学療法歴のあるBRCA1/2遺伝子変異陽性かつHER2陰性の手術不能または再発乳癌の治療薬として,PARP阻害薬の一つであるolaparib(商品名リムパーザ錠)が保険収載された。BRCA1/2遺伝学的検査がコンパニオン診断として保険収載されたことは,遺伝性腫瘍全般に対する保険診療の先駆けとしてたいへん意義がある。しかしながら,このコンパニオン診断に関連し,遺伝カウンセリング体制の整備,自費診療で行ったBRCA1/2遺伝学的検査の扱いなど複数の問題が浮上している。また,コンパニオン診断の目的そのものは対象となる薬剤の適応確認ではあるが,その結果には遺伝性腫瘍の診断が付随するため,病的変異を有する家系の血縁者に対する診療体制および社会的環境の整備も急務である。遺伝子解析が臨床現場に普及し,今後より広く遺伝診療が進んでいくことが予測される現在,遺伝性乳癌卵巣癌(hereditary breast and ovarian cancer: HBOC)をはじめとする遺伝性腫瘍への対策を検討していくことの重要性はさらに高まると考えられる。本稿においては,HBOC診療の現状と展望に関する見解をコンパニオン診断に焦点を当てながら述べる。