Leveraging behavioral economics to equitably implement cascade screening in individuals with familial hypercholesterolemia in partnership with the FH Foundation

拟议的项目利用了我们与家族性高胆固醇血症(FH)的长期合作伙伴关系。 基金会，一个非营利性的研究和倡导组织，来完善和测试两种有希望的方法来 对FH患者实施级联筛查。尽管FH诊断和治疗的循证指南 治疗方面，100多万患有这种遗传性疾病的美国人仍然没有得到诊断，而且差异很大 在种族/少数民族(黑人和非裔美国人、亚洲人)和性别方面存在 (女性)。级联筛查是接触和筛查一级生物的循证实践 FH的亲属先兆并提高了FH的及时诊断，降低了发病率。级联 筛查计划在其他国家取得了成功，在这些国家，卫生系统在通报方面发挥了关键作用 但主要的实施挑战限制了美国试点项目的普及。 包括监管限制，限制了卫生系统的推广，以及难以联系外面的家庭成员 一个特定的医疗系统。在美国，鉴于监管限制，层叠筛查必须涉及先证者。 应用行为经济学的进展对改善级联筛查的实施具有巨大的潜力 通过先证者调解的策略。由具有实施科学(Beidas)、行为科学专业知识的MPI领导 Economics(Volpp)和FH(Rader)，我们将共同设计、试行和测试两个面向患者的实施 增加宾夕法尼亚大学医学院300名先证者层叠筛查覆盖面的策略。我们的随机 对照试验将测试(A)使用自动短信的卫生系统中介策略，(B)FH 使用导航器的基金会中介战略，以及(C)级联筛查的“通常护理”方法。两者都有 积极的策略将由行为经济学提供信息。在R61阶段，我们将共同设计医疗系统- 以及FH基金会与FH合作使用行为经济学介导的实施战略 基础和来自不同背景的关键利益相关者(目标1)，然后与20位FH一起试验我们的战略 先证者以确定可行性、可接受性和适当性(目标2)。在R33阶段，我们将进行 三臂混合型3型有效性-实施RCT，并比较卫生系统介导的效果， FH基金会调解的，REACH上的常规护理方法(至少有一名 完成筛查的家庭成员)、筛查的家庭成员数、家庭成员数 诊断为FH，先证者低密度脂蛋白胆固醇水平(目标1)。我们将使用混合方法来确定实施情况 注重卫生公平的战略机制，对存在差异的人口进行过抽样(目标2)。 通过测试可持续和可扩展的实施方法，我们的研究结果将指导未来 在大范围内和大范围外大规模实施FH等遗传疾病的级联筛查 在回答与公平执行有关的重要问题的同时，加强卫生系统的能力。成功 可以根据NHLBI战略目标6，在全国范围内采取拯救生命的战略。

The proposed project leverages our longstanding partnership with the Familial Hypercholesterolemia (FH) Foundation, a nonprofit research and advocacy organization, to refine and test two promising approaches to implement cascade screening in individuals with FH. Despite evidence-based guidelines for FH diagnosis and treatment, over 1 million Americans with this inherited condition remain undiagnosed, and substantial disparities exist with regard to racial/ethnic minorities (Black and African American people, Asian people) and gender (women). Cascade screening is an evidence-based practice of contacting and screening first-degree biological relatives of FH probands and improves timely FH diagnosis and reduces morbidity cost-effectively. Cascade screening programs have been successful in other countries where health systems play a key role in notification of relatives, but major implementation challenges limit uptake in the U.S. Pilot projects have identified barriers including regulatory constraints limiting health system outreach and difficulty contacting family members outside a given health system. In the U.S., cascade screening must involve the proband given regulatory constraints. Applying advances in behavioral economics has great potential to improve implementation of cascade screening via proband-mediated strategies. Led by MPIs with expertise in implementation science (Beidas), behavioral economics (Volpp), and FH (Rader), we will co-design, pilot, and test two patient-facing implementation strategies to increase reach of cascade screening with 300 probands within Penn Medicine. Our randomized controlled trial will test (a) a health system-mediated strategy using automated text messages, (b) a FH Foundation-mediated strategy using a navigator, and (c) the “usual care” approach to cascade screening. Both active strategies will be informed by behavioral economics. In the R61 phase, we will co-design health system- and FH Foundation-mediated implementation strategies using behavioral economics in partnership with the FH Foundation and key stakeholders from diverse backgrounds (Aim 1) and then pilot our strategies with 20 FH probands to ascertain feasibility, acceptability, and appropriateness (Aim 2). In the R33 phase, we will conduct a 3-arm hybrid Type 3 effectiveness-implementation RCT, and compare the effect of health system-mediated, FH Foundation-mediated, and usual care approaches on reach (proportion of probands who have at least one family member who completes screening), number of family members screened, number of family members diagnosed with FH, and proband LDL-C levels (Aim 1). We will use mixed methods to identify implementation strategy mechanisms focusing on health equity by oversampling populations that experience disparities (Aim 2). By testing sustainable and scalable implementation approaches, our study results will be poised to guide future wide-scale implementation of cascade screening for FH and other genetic conditions within and outside large health systems while also answering important questions related to equitable implementation. Successful strategies can be taken to scale nationally to save lives, in keeping with NHLBI Strategic Objective 6.