FACILITATING INFORMED DECISIONS ABOUT BRCA1 TESTING

乳腺癌易感基因的鉴定是近年来研究的热点 现象。事实上，自首次提交本申请以来， 第二个乳腺癌易感基因BRCA2被发现。许多 随着基因检测成为标准的临床试验， 实践女性需要哪些信息来做出明智的决定 关于测试？什么是心理和社会心理的影响， 乳腺癌和卵巢癌患者的BRCA1/BRCA2检测及其 亲戚？自从这个项目开始工作以来，我们已经收集了宝贵的 关于态度、信仰和信息需求的信息， BRCA1和BRCA2检测一项干预试验，使用定制的知情 第一年制定的知情同意书和住院护理知情同意书 正在顺利进行中。所有受试者将被确定为处于高水平 BRCA1/BRCA2阳性的风险基于家族史，他们将 提供基因检测。据推测，定制的信息 同意组对乳腺癌的侵入性想法会更少， 提高对基因检测的认识， 患乳腺癌的风险（仅限亲属）。量身定制的材料准备 根据关于该人的已知信息， 通过提供保健专业人员的研究， 决策所需的信息以及 咨询过程。由于这方面的巨大基础设施需求， 相关项目，包括同意材料、问卷调查工具， 一个数据库，一个基因检测设施， 最初计划。然而，当我们进入第三年时， 试验已招募了182名家庭成员，并正在以一种 最先进的基础设施和工作人员以及内部的转介基础， 包括丹娜-法伯癌症研究所 长老会医院在夏洛特，北卡罗来纳州和佛罗里达医院。我们预计 第一次完成400名研究参与者的入组， 第四年。咨询、基因检测和随访将继续进行 第五年上半年。统计分析，以回答 主要研究假设将在第四年进行，并在 第五年年底，从而实现了所有最初的目标， study.我们相信这项研究将有助于改善决策 关于BRCA1/BRCA2检测和更好地了解 乳腺癌基因检测的社会心理影响。

The identification of breast cancer susceptibility genes is a recent phenomena. In fact, since the initial submission of this application a second breast cancer susceptibility gene, BRCA2, was identified. Many questions must be answered, as genetic testing becomes standard clinical practice. What information do women need to make an informed decision about testing? What is the psychological and psychosocial impact of BRCA1/BRCA2 testing on breast and ovarian cancer patients and their relatives? Since work on this project began, we have assembled valuable information concerning the attitudes, beliefs and information needs about BRCA1 and BRCA2 testing. An intervention trial, using Tailored Informed Consent Information and Usual Care Informed Consent developed in year one is well underway. All subjects will have been determined to be at high risk of BRCA1/BRCA2 positive based on family history, and they will be offered genetic testing. It is hypothesized that the Tailored Informed Consent group will have fewer intrusive thoughts about breast cancer, improved knowledge about genetic testing, and more accurate perception of their breast cancer risk (relatives only). Tailored materials are prepared for an individual based on information known about that person and have the potential to extend the research of health professional by providing information needed to make decisions and the pre-test phase of the counseling process. Due to the vast infrastructure needs for this and related projects, including consent materials, questionnaire instruments, a database, and a genetic testing facility, accrual began later than initially planned. However, as we entered year three, the intervention trial has enrolled 182 family members and is operating with a state-of- the-art infrastructure and staff as well as referral base from within and outside our institution, including the Dana-Farber Cancer Institute, Presbyterial Hospital in Charlotte, NC and Florida Hospital. We anticipate the completion of the enrollment of 400 study participants in the first year of year four. Counseling, genetic testing and follow-up will continue through the first half of year five. Statistical analyses to answer the main study hypotheses will be in progress in year four and completed by the end of year five, thus accomplishing all the original aims of this study. We believe that this research will lead to improved decision-making concerning BRCA1/BRCA2 testing and a better understanding of the psychosocial impact of genetic testing for breast cancer.