Decision Support for Multigene Panel Testing and Family Risk Communication among Racially/Ethnically Diverse Young Breast Cancer Survivors

项目摘要/摘要： 遗传性乳腺癌和卵巢癌(HBOC)综合征的多基因小组检测的引入 迅速改变了对患者及其家属进行基因检测的临床方法。青年乳腺癌 幸存者(YBC)，在50岁时被诊断为≤，可能遗传了一种致病/可能致病(P/LP) 乳腺癌易感基因的变异，例如BRCA1、BRCA2、PALB2等。最近的研究发现 年轻乳腺癌患者基因检测完成率低于50%的次优率 遗传性乳腺癌和卵巢癌(HBOC)综合征。基因检测中的种族和民族差异 完成和结果都得到了很好的记录。我的长期职业目标是成为一名领军人物 乳腺癌预防和控制方面的独立研究员，专注于癌症遗传学/基因组学、风险 沟通、生物行为肿瘤学和减少少数民族之间的癌症健康差异 女人。具体目标是：在目标1中，我们建议确定与完成HBOC有关的因素 多基因小组检测、癌症风险降低行为和种族/民族间的家庭风险沟通 不同的年轻乳腺癌幸存者(YBCS)(N=300)在一项顺序的解释性混合方法研究中。 此外，我们将对(N=40)名完成基因检测的YBCS和那些 尚未完成基因检测，以探索关于基因检测的知识、态度和信念，并 确定向其高危亲属传达遗传风险的障碍和促进者。我们将照亮 收集定性数据的定量结果。在目标2中，我们将应用以用户为中心的设计来修改 RealRisks决策辅助中现有的基因检测模块，以满足YBCS的需求并增加家庭 风险沟通内容，并开展参与性研讨会和可用性测试(N=20)。最后，在目标3中， 我们将单独或联合进行标准患者教育的试点随机对照试验 修改后的RealRisks在种族/民族多元化的YBC中提供决策援助。这个职业发展奖将 为我提供受保护的时间和机会，让我在几个有针对性的领域实现我的培训目标：(1)： 获取并应用先进的统计分析方法进行混合方法和干预研究； (2)增加生物行为肿瘤学、癌症存活率、临床应用等方面的知识和技能 遗传/基因组医学，家庭风险沟通，级联基因检测，适应基于网络的 对未得到充分服务的人群的决策支持干预，以及乳腺癌健康差异；(3)获得教育 和随机对照试验中的体验式学习；以及(4)发展领导技能 科学研究的道德行为，拨款的撰写，提高学术生产力，以及管理技能 科学上的独立。综上所述，本次导师研究科学家发展奖旨在推动 多样性将为我提供成功过渡到科学独立的宝贵经验， 最终缩小健康差距。

Project Summary/Abstract: The introduction of multi-gene panel testing for hereditary breast and ovarian cancer (HBOC) syndrome has rapidly changed the clinical approach to genetic testing for patients and their families. Young breast cancer survivors (YBCS), diagnosed at age ≤50 years old, may have inherited a pathogenic/likely pathogenic (P/LP) variant in a breast cancer susceptibility gene, e.g., BRCA1, BRCA2, PALB2, etc. Recent studies have found suboptimal rates of genetic testing among young breast cancer patients with less than 50% completion rates for hereditary breast and ovarian cancer (HBOC) syndrome. Racial and ethnic disparities in genetic testing completion and results have been well documented. My long-term career goal is to become a leading independent investigator in breast cancer prevention and control, focusing on cancer genetics/genomics, risk communication, biobehavioral oncology, and reduction of cancer health disparities among racial/ethnic minority women. The specific aims are: In Aim 1, we propose to identify factors associated with completion of HBOC multigene panel testing, cancer risk-reducing behaviors, and family risk communication among racially/ethnically diverse young breast cancer survivors (YBCS) (N=300) within a sequential explanatory mixed-methods study. In addition, we will conduct qualitative interviews with (N=40) YBCS who completed genetic testing and those who have not completed genetic testing to explore knowledge, attitudes, beliefs about genetic testing, and to identify barriers and facilitators to the communication of genetic risk to their at-risk relatives. We will illuminate quantitative findings with qualitative data collected. In Aim 2, we will apply user-centered design to modify the existing genetic testing module within the RealRisks decision aid to meet the needs of YBCS and to add family risk communication content and conduct participatory workshops and usability testing (N=20). Lastly, in Aim 3, we will conduct a pilot randomized controlled trial of standard patient education alone or in combination with the modified RealRisks decision aid among racially/ethnically diverse YBCS. This career development award will provide me with protected time and the opportunity to pursue my training goals in several targeted areas: (1): Acquire and apply advanced statistical analytics for conducting mixed methodology and intervention research; (2) increase knowledge and skills in biobehavioral oncology, cancer survivorship, clinical application of genetic/genomic medicine, risk communication in families, cascade genetic testing, adapting web-based decision support interventions for underserved populations, and breast cancer health disparities; (3) gain didactic and experiential learning in the conduct of randomized controlled trials; and (4) develop leadership skills in the ethical conduct of scientific research, grant writing, increasing scholarly productivity, and management skills for scientific independence. In summary, this Mentored Research Scientist Development Award to Promote Diversity will provide me with invaluable experiences to successfully transition into a scientific independence, ultimately reducing health disparities.