Rimer B K, Sugarman J, Winer E, Bluman L G, Lerman C
Duke University Medical Center, Cancer Control Research Program, Trent Drive, Hanes House, Box 2949, Durham, NC 27710, USA.
Breast Dis. 1998 Apr;10(1-2):99-114. doi: 10.3233/bd-1998-101-212.
While the cloning of BRCA1 and BRCA2 in 1994 and 1995 engendered great enthusiasm from cancer patients, their families and physicians, concerns about potential problems faced by those undergoing genetic testing were also evident. Although much can be learned from previous research on informed consent for testing and research for predictive genetic testing in diseases other than cancer, there are some specific issues related to cancer that make the questions more pressing, more difficult, and of larger social concern. Organizations such as the National Advisory Council for Human Genome Research, the American Society for Human Genetics, the American Society of Clinical Oncology and the Task Force for Genetic Testing have presented recommendations about informed consent for cancer susceptibility testing. However, many unanswered questions remain concerning the informed consent process. This review provides background on informed consent, summarizes studies that have been conducted in the area of genetic testing, with a focus on testing for BRCA1 and BRCA2, and details recommendations for achieving informed consent for genetic testing for cancer susceptibility and research on cancer genetics.
1994年和1995年BRCA1和BRCA2基因的克隆，引发了癌症患者、其家属及医生的巨大热情，但对于那些接受基因检测的人可能面临的潜在问题的担忧也很明显。尽管之前关于疾病（而非癌症）预测性基因检测的知情同意测试及研究能让我们学到很多东西，但与癌症相关的一些特定问题，使得这些问题更加紧迫、更加棘手，也更受社会关注。诸如国家人类基因组研究咨询委员会、美国人类遗传学会、美国临床肿瘤学会以及基因检测特别工作组等组织，已就癌症易感性检测的知情同意提出了建议。然而，关于知情同意过程仍有许多未解决的问题。本综述提供了知情同意的背景，总结了在基因检测领域开展的研究，重点是BRCA1和BRCA2检测，并详细阐述了癌症易感性基因检测及癌症遗传学研究实现知情同意的建议。
