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

项目概要/摘要： 遗传性乳腺癌和卵巢癌（HBOC）综合征的多基因面板测试的引入， 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 在年龄≤50岁时诊断的幸存者（YBCS）可能遗传了致病性/可能致病性（P/LP） 乳腺癌易感基因的变异，例如，BRCA 1、BRCA 2、PALB 2等。 年轻乳腺癌患者的基因检测率低于50%， 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 完成情况和结果都有详细记录。我的长期职业目标是成为一名 乳腺癌预防和控制的独立研究员，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种族/族裔之间的癌症健康差异 妇女具体目标是：在目标1中，我们建议确定与完成HBOC相关的因素 多基因面板测试，癌症风险降低行为，以及种族/民族之间的家庭风险沟通 不同的年轻乳腺癌幸存者（YBCS）（N=300）在一个连续的解释性混合方法研究。 此外，我们将对（N=40）完成基因检测的YBCS和那些 没有完成基因检测的人，探索关于基因检测的知识、态度和信念， 找出遗传风险传达给其高危亲属的障碍和促进因素。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决策辅助工具中的现有基因检测模块，以满足YBCS的需求并增加家庭 风险沟通内容，并开展参与式研讨会和可用性测试（N=20）。最后，在目标3中， 我们将进行一项试验性随机对照试验，单独进行标准患者教育或与 在种族/民族多样化的YBCS中修改RealRisks决策辅助。该职业发展奖将 为我提供受保护的时间和机会，以实现我在几个目标领域的培训目标：（1）： 获取和应用先进的统计分析进行混合方法和干预研究; (2)提高生物行为肿瘤学、癌症生存率、 遗传/基因组医学，家庭风险沟通，级联基因检测，适应网络 决策支持干预服务不足的人群，和乳腺癌的健康差距;（3）获得教学 和经验学习的随机对照试验的行为;和（4）发展领导技能， 科学研究的道德行为，赠款写作，提高学术生产力和管理技能， 科学独立。总之，这个指导研究科学家发展奖，以促进 多样性将为我提供宝贵的经验，成功地过渡到科学的独立， 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.