INTERACTIVE DECISION AID FOR BRCA 1/2 MUTATION CARRIERS

说明(改编自调查员摘要)：自确定 BRCA1和BRCA2是乳腺癌的易感基因，基因检测已经 变得越来越普遍。继承BRCA1/2突变的女性有 乳腺癌的终生风险为55%-85%。主要的医疗决策 这些妇女面临的问题是是否进行预防性乳房切除术(乳房 摘除)或每年接受乳房X光检查。因为有限的数据偏向于 无论是这些选择还是其他选择，女性都会被告知这些好处和 每个选项的局限性，并建议您选择一个与其 个人喜好和价值观。尽管针对外科手术的具体建议 对照监控一般不做，BRCA1/2携带者不选 建议进行手术以获得年度乳房X光检查。鉴于缺乏明确的 指南，这并不令人惊讶，据报道，医疗决策 收到一封积极的信最具挑战性和压力最大的后果之一 BRCA1/2基因检测结果，许多携带者没有采用任何一种选择。 该项目目标是开发和评价一种基于光盘的交互式光盘 为最近接受BRCA1/2基因检测呈阳性的女性提供决策援助 结果。我们建议在BRCA1和BRCA2突变携带者中进行随机试验 其中我们将比较标准遗传咨询(SGC)和增强遗传咨询 由个性化决策辅助组成的遗传咨询条件 (IDA)与标准遗传咨询一起提供。国际开发协会将 在一定程度上，要基于主观预期效用理论。效用理论 建议人们在做出选择时，选择最大化的选项 积极的结果，最大限度地减少负面结果。一个人的价值 对特定健康结果的位置被称为她的偏好或 实用程序。关于其他医学背景下的决策的文献表明 效用理论指导的决策辅助干预可以促进知情 决策和增进心理健康。如果有效，国际开发协会可以 可轻松传播给全国的BRCA1/2运营商，并适用于 与其他具有遗传癌症风险的人群一起使用。

DESCRIPTION (adapted from investigator's abstract): Since the identification of the BRCA1 and BRCA2 breast cancer susceptibility genes, genetic testing has become increasingly widespread. Women who inherit a BRCA1/2 mutation have a 55-85 percent lifetime risk of breast cancer. The primary medical decision facing these women is whether to have a prophylactic mastectomy (breast removal) or to receive yearly mammograms. Because limited data favor one of these options or the other, women are informed about the benefits and limitations of each and counseled to select an option consistent with their personal preference and values. Although a specific recommendation for surgery versus surveillance is not generally made, BRCA1/2 carriers who do not elect surgery are advised to obtain annual mammograms. Given the lack of clear guidelines, it is not surprising that medical decision-making is reported to be one of the most challenging and stressful consequences of receiving a positive BRCA1/2 gene test result, and many carriers fail to adopt either option. The goal of this project is to develop and evaluate an interactive CD-ROM-based decision-aid for women who have recently received a positive BRCA1/2 gene test result. We propose a randomized trial among BRCA1 and BRCA2 mutation carriers in which we will compare standard genetic counseling (SGC) to an enhanced genetic counseling condition that consists of the individualized decision-aid (IDA) delivered in conjunction with standard genetic counseling. The IDA will be based, in part, on Subjective Expected Utility theory. Utility theory suggests that in making choices, people select the option that maximizes positive outcomes and minimizes negative outcomes. The value that an individual places on a particular health outcome is referred to as her preference or utility. Literature on decision-making in other medical contexts suggests that decision-aid interventions guided by Utility theory can promote informed decision-making and enhance psychological well being. If effective, the IDA can easily be disseminated to BRCA1/2 carriers across the country and adapted for use with other populations with inherited risk for cancer.