Process & Outcomes of BRCAL/2 clinical testing

描述：(申请者摘要)：BRCA1和BRCA2是导致乳腺癌和卵巢癌易感性增加的基因 在20世纪90年代中期，S和商业测试很快就可以使用了。 对接受BRCA1/2种系突变检测的妇女进行密集评估 已经进行了，并证明了参与遗传的女性 通过高度结构化和支持性计划进行的测试，主要在 学术机构在整个过程中总体上做得很好，在 长期(1-5)。在美国，绝大多数BRCA1/2测试是 现在由单一商业临床实验室(Myriad Genetics)执行 实验室(MGL))，女性可以直接通过她们的 医生。现在，很大一部分测试都是通过以下方式完成的 机制，但现在进行的临床测试的程度 接近结构化研究计划中提供的密集支持 是未知的。在学术中心外进行临床测试的女性的结果 还没有被研究过。在这个项目中，我们打算在以下三个方面进行探索 哪些数据已经缺失，使用未选择的唯一资源 通过MGL测试的妇女人口。这些问题包括：1)结果是什么 (知识、心理调整、健康行为、满意度和 机密性方面的考虑)在所有范围内接受检测的女性 测试的临床环境是什么？2)是特定的 提供者的特征(经验、专业知识、遗传咨询师的使用) 以及提供测试的情况(学术、非学术、 专业与临床实践课程)相关的更有利 接受检测的女性的结果是什么？以及3)哪些因素会影响到 区分要求进行BRCA1/2基因检测的医生和 还没有利用这项新技术吗？该项目涉及对妇女的调查。 向MGL提供了用于BRCA1/2分析的标本，其提供者，以及 控制医生。从这个项目中学到的信息可能有助于 为BRCA 1/2测试的最佳实施制定标准，并有可能 也可用于其他易感性测试。

DESCRIPTION: (Applicant's Abstract): The genes conferring increased susceptibility to breast and ovarian cancer, BRCA1 and BRCA2, were identified in the mid-1990's and commercial testing became available soon thereafter. Intensive evaluation of women undergoing testing for BRCA1/2 germline mutations has been conducted, and has demonstrated that women participating in genetic testing through highly structured and supportive programs conducted largely at academic institutions have generally done well through the process and in the long term (1-5). In the United States, the vast majority of BRCA1/2 testing is now performed by a single commercial clinical laboratory (Myriad Genetics Laboratory (MGL)), with the test available to women directly through their physicians. A substantial portion of testing is now accomplished through this mechanism, but the extent to which clinical testing as it is now performed approximates the intensive support provided in the structured research programs is unknown. The outcomes of women tested clinically outside of academic centers have not yet been studied. In this project, we intend to explore three areas in which data have been lacking, using the unique resource of the unselected population of women tested through MGL. These include: 1) What are the outcomes (knowledge, psychological adjustment, health behaviors, satisfaction, and confidentiality concerns) of women undergoing testing across the spectrum of clinical settings in which testing is earned out? 2) Are specific characteristics of providers (experience, expertise, use of genetic counselors) and of the circumstances in which testing is provided (academic, non-academic, specialty vs. course of clinical practice) associated with more favorable outcomes for women undergoing testing? and 3) What are the factors that distinguish physicians who are ordering BRCA1/2 genetic testing from those who have not utilized this new technology? The project involves surveys of women who have provided specimens to MGL for BRCA1/2 analysis, their providers, and control physicians. The information learned from this project may help to create a standard for the optimal conduct of BRCA 1/2 testing, and potentially for other predisposition testing as well.