Tsunematsu Y
Division of Hematology/Oncology, National Children's Hospital, Tokyo, Japan.
Gan To Kagaku Ryoho. 1997 Jun;24(8):945-50.
Recent advance in molecular biology have led to the identification several inherited cancer susceptibility genes. The pre-symptomatic testing is expected to reduce cancer morbidity and mortality by preventive intervention, early detection and adequate management. But this new predictive tests may raise ethical legal social issues (ELSI) in association with the right to control private information and confidentiality. The implications of test results are enormous, not only for the individuals but also for relatives who share this genetic legacy and society as a whole. Genetic testing for cancer susceptibility should generally be performed only within the context of long-term outcome studies which are designed to measure the medical and psychological effectiveness. The Ethical Subcommittee in Japanese Society of Familial Tumors is now elaborating the guidelines for the research on genetic testing for familial tumors in order to support the individual or family who are the subjects of the research of the clinical applications and to protect their human rights. Current standards for contents and process of informed consent and core elements in obtaining consent for DNA sample storage in medical research were listed up.
分子生物学的最新进展已促成了几种遗传性癌症易感基因的鉴定。症状前检测有望通过预防性干预、早期检测和适当管理来降低癌症发病率和死亡率。但这种新的预测性检测可能会引发与控制私人信息权和保密性相关的伦理、法律和社会问题（ELSI）。检测结果的影响是巨大的，不仅对个人，而且对共享这种遗传特征的亲属以及整个社会都是如此。癌症易感性基因检测通常应仅在旨在衡量医学和心理效果的长期结果研究的背景下进行。日本家族性肿瘤学会伦理小组委员会目前正在制定家族性肿瘤基因检测研究指南，以支持作为临床应用研究对象的个人或家庭，并保护他们的人权。列出了医学研究中知情同意的内容和过程以及获取DNA样本存储同意的核心要素的现行标准。
