BRCA1/2 Education for Mothers and Their Teen Daughters

成千上万的女性接受了BRCA 1/2突变检测，以确定她们是否具有遗传性乳腺癌和卵巢癌易感性。对这一人群进行的社会和行为研究表明，将突变携带者的阳性检测结果传达给他们的高风险家庭成员可能是一项情绪化和困难的任务。虽然遗传咨询协议认识到这种行为的重要性，以帮助控制遗传性癌症的亲属内的传播，很少有病人的教育资源，以协助这一过程。此外，当沟通的重点是未成年子女时，父母的需求和动机是独特的。尽管儿童在18岁之前没有资格接受检测，但我们的研究表明，大约50%的女儿几乎立即被告知母亲的携带者状况。看来，母亲在没有专家指导的情况下让女儿参与这些对话，这种交流的结果是未知的。当母亲和女儿谈论基因检测时，这是一个充满感情的或“热门”的问题，母亲们愿意接受帮助。R 03申请的重点是为携带BRCA 1/2突变的母亲及其十几岁的女儿开发患者教育资源手册。这项工作将在2年内分2个阶段进行。在第一阶段/第一年，将对n=15对高风险母女进行深入的定性研究访谈。还将召集一个由来自肿瘤内科、儿科和青少年医学、行为科学/心理学、遗传咨询以及消费者的专家组成的咨询小组，征求他们对这一领域与患者教育密切相关的关键问题和概念的意见。这将构成一项需求评估。在第二阶段/第二年，通过第一阶段收集的所有信息将用于制作患者教育资源手册，以帮助高危母亲和女儿就遗传性乳腺癌/卵巢癌和BRCA 1/2基因检测进行对话。这些资源将进行预测试，然后使用传统和标准化良好的患者教育资源评估方法和工具对可读性、可接受性、可理解性、相关性和敏感性进行试点测试，并使用单组、预-事后设计（前、后1周和1个月后）。预计在遗传性癌症易感性问题方面，该资源将改善母亲及其十几岁女儿之间的知识、沟通和支持。

Thousands of women have been tested for BRCA1/2 mutations to determine whether they harbor an inherited susceptibility to breast and ovarian cancer. Social and behavioral research conducted with this population suggests that communication of positive test results among mutation carriers to their high-risk family members can be an emotional and difficult task. Though genetic counseling protocols recognize the importance of this behavior to help control the spread of hereditary cancer within the kinship, few patient education resources are available to assist in this process. Moreover, when the focus of the communication is to minor children, parents' needs and motivations are unique. Despite the fact that children are not eligible for testing until reaching age 18, our research suggests that approximately 50% of daughters are almost immediately informed about their mothers' carrier status. It would appear that mothers engage their daughters in these conversations without the benefit of expert guidance and outcomes from this exchange are unknown. When mothers do talk with their daughters about genetic testing it is an emotionally-charged or "hot" issue and mothers are receptive to assistance. The focus of this R03 application is on the development of patient educational resource booklets for mothers who carry BRCA1/2 mutations and their teenage daughters. This work will be performed in 2 phases over a 2 year period. In Phase I/Year 1, in-depth qualitative research interviews will be conducted with n=15 high-risk mother-daughter pairs. An advisory panel of experts drawn from medical oncology, pediatrics and adolescent medicine, behavioral science/psychology, and genetic counseling as well as consumers will also be convened to solicit their input on key issues and concepts germane to patient education in this area. Together, this will constitute a needs assessment. In Phase II/Year 2, all of the information gathered through Phase I will be used to create patient educational resource booklets to assist high-risk mothers and daughters in their conversations about hereditary breast/ovarian cancer and BRCA1/2 genetic testing. These resources will be pretested and then pilot tested for readability, acceptability, understandability, relevance, and sensitivity using conventional and well-standardized patient education resource evaluation methods and tools with an additional 30 high-risk mother-daughter pairs using a one-group, pre-post design (pre, 1 week post, and 1 month afterwards). It is expected that with respect to issues surrounding hereditary cancer susceptibility, the resource will result in improved knowledge, communication, and support among mothers and their teenage daughters.