Testing scalable communication modalities for returning breast cancer genetic research results to African American women

摘要 国家在精准医学方面的举措，如全民研究计划，已经制定了雄心勃勃的计划。 建立一个100万或更多参与者的研究队列，并开创一个医学的新时代， 使患者、研究人员和提供者能够共同努力， 治疗。大规模精准医学研究的一个核心挑战是个体遗传学的回归。 研究结果对研究参与者。然而，扩大临床可操作遗传结果回报的方法 到目前为止还没有得到很好的测试。这一奋进的规模重新引起了人们的关注 缺乏合格的遗传咨询师来完成这项任务。因此，需要进行严格的研究， 测试遗传结果披露的替代模型的有效性，这对如何披露遗传结果具有广泛的影响。 精准医学研究可能会为研究参与者带来直接利益。我们建议进行一项 在黑人妇女健康研究（BWHS）中进行的随机对照试验（RCT）， 成果披露的沟通方式。BWHS是一项正在进行的前瞻性队列研究， 自1995年以来一直被跟踪的来自美国各地的黑人女性。针对性 对队列中超过4000名女性进行BRCA 1/2和其他已知或疑似高水平和 中度突变基因开辟了将乳腺癌遗传结果返回BWHS的可能性 参与者和检查遗传结果的临床效用返回。建议的主要目的 研究项目是比较两种沟通方式的疗效，为返回乳腺癌遗传 非裔美国妇女的研究结果：1）一种传统的方式，需要电话披露，由一个 有执照的遗传咨询师，2）在线自我指导模式，需要直接将结果返回给 参与者，可选的遗传咨询师通过电话随访。本研究的次要目的是检查 1)干预影响的调节因素和2）心理社会，社会人口统计学和临床预测因素 成果吸收。这项研究的独特之处在于提供了关键的经验证据， 遗传结果的替代模型返回，并提供了对影响摄取的因素的进一步了解。 非裔美国女性的遗传信息。研究结果将为正在进行的建立 可扩展的方法，以有效回报遗传研究结果，并增加获得个人健康的机会 非裔美国妇女的信息。

ABSTRACT National initiatives in precision medicine, such as the All of Us Research Program, have set ambitious plans to establish a research cohort of one million or more participants and enable a new era of medicine that empowers patients, researchers, and providers to work together toward development of individualized treatments. A central challenge to large-scaled precision medicine research is the return of individual genetic research results to study participants. Yet, approaches to scale the return of clinically actionable genetic results to large cohorts have not been well-tested to date. The magnitude of this endeavor has renewed concerns about the shortage of qualified genetic counselors for this task. Rigorous research efforts are thus needed to test the efficacy of alternate models for genetic results disclosure, which has widespread implications for how precision medicine research might yield direct benefits for study participants. We propose to conduct a randomized controlled trial (RCT) within the Black Women's Health Study (BWHS) to test alternate communication modalities for results disclosure. The BWHS is an ongoing prospective cohort study of 59,000 self-identified black women from across the United States who have been followed since 1995. Targeted sequencing of over 4000 women within the cohort for BRCA1/2 and other known or suspected high and moderate penetrance genes opens up the possibility of returning breast cancer genetic results to BWHS participants and examining the clinical utility of genetic results return. The primary aim of the proposed research project is to compare the efficacy of two communication modalities for returning breast cancer genetic research results to African American women: 1) a conventional modality that entails telephone disclosure by a licensed genetic counselor, and 2) an online self-guided modality that entails returning results directly to participants, with optional genetic counselor follow-up via telephone. Secondary aims of this study will examine 1) moderators of the intervention impact and 2) psychosocial, sociodemographic, and clinical predictors of result uptake. This study is uniquely situated to provide critical empirical evidence on the effectiveness of alternate models for genetic results return and provide further insight into the factors influencing uptake of genetic information among African American women. Study findings will inform ongoing efforts to establish scalable approaches for effective return of genetic research results, and increase access to personal health information among African American women.