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

摘要 精准医学方面的国家倡议，如我们所有人的研究计划，都制定了雄心勃勃的计划 建立100万或更多参与者的研究队列，并使医学进入一个新时代 使患者、研究人员和提供者能够共同努力，发展个性化的 治疗。大规模精确医学研究的一个中心挑战是个体基因的回归 研究结果给研究参与者。然而，衡量临床上可操作的遗传结果回归的方法 到目前为止还没有得到很好的测试。这一努力的规模再次引发了人们的担忧 关于缺乏合格的遗传顾问来完成这项任务。因此，需要进行严格的研究工作，以 测试遗传结果披露的替代模型的有效性，这对如何 精确医学研究可能会为研究参与者带来直接好处。我们建议进行一项 黑人妇女健康研究(BWHS)内的随机对照试验(RCT)以测试替代 结果披露的沟通方式。BWHS是一项正在进行的59,000人的前瞻性队列研究 自1995年以来一直受到关注的来自全美各地的自我确认的黑人女性。目标明确 队列中4000多名女性的BRCA1/2和其他已知或怀疑高和 中等外显性基因开启了将乳腺癌遗传结果返回BWHS的可能性 参与者并检查基因结果的临床效用返回。建议的主要目的是 研究项目是比较两种沟通方式对乳腺癌基因回归的疗效 对非裔美国女性的研究结果：1)一种传统的方式，需要通过电话披露 有执照的遗传顾问，以及2)在线自我指导模式，需要将结果直接返回到 参与者，可选遗传咨询师通过电话进行随访。这项研究的次要目标将审查 1)干预影响的调节因素和2)心理社会、社会人口和临床预测因素 结果领会。这项研究的独特之处在于提供了关键的经验证据，证明了 遗传结果返回的替代模型，并提供对影响摄取的因素的进一步洞察 非裔美国女性的基因信息。研究结果将为正在进行的努力提供信息，以建立 可扩展的方法，有效地返回基因研究成果，并增加获得个人健康的机会 在非裔美国妇女中的信息。

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.