PDF(Pubmed)
Abstract：
BACKGROUND: Familial hypercholesterolemia (FH) is a heritable disorder affecting 1.3 million individuals in the USA. Eighty percent of people with FH are undiagnosed, particularly minoritized populations including Black or African American people, Asian or Asian American people, and women across racial groups. Family cascade screening is an evidence-based practice that can increase diagnosis and improve health outcomes but is rarely implemented in routine practice, representing an important care gap. In pilot work, we leveraged best practices from behavioral economics and implementation science-including mixed-methods contextual inquiry with clinicians, patients, and health system constituents-to co-design two patient-facing implementation strategies to address this care gap: (a) an automated health system-mediated strategy and (b) a nonprofit foundation-mediated strategy with contact from a foundation-employed care navigator. This trial will test the comparative effectiveness of these strategies on completion of cascade screening for relatives of individuals with FH, centering equitable reach.
METHODS: We will conduct a hybrid effectiveness-implementation type III randomized controlled trial testing the comparative effectiveness of two strategies for implementing cascade screening with 220 individuals with FH (i.e., probands) per arm identified from a large northeastern health system. The primary implementation outcome is reach, or the proportion of probands with at least one first-degree biological relative (parent, sibling, child) in the USA who is screened for FH through the study. Our secondary implementation outcomes include the number of relatives screened and the number of relatives meeting the American Heart Association criteria for FH. Our secondary clinical effectiveness outcome is post-trial proband cholesterol level. We will also use mixed methods to identify implementation strategy mechanisms for implementation strategy effectiveness while centering equity.
CONCLUSIONS: We will test two patient-facing implementation strategies harnessing insights from behavioral economics that were developed collaboratively with constituents. This trial will improve our understanding of how to implement evidence-based cascade screening for FH, which implementation strategies work, for whom, and why. Learnings from this trial can be used to equitably scale cascade screening programs for FH nationally and inform cascade screening implementation efforts for other genetic disorders.
BACKGROUND: ClinicalTrials.gov, NCT05750667. Registered 15 February 2023-retrospectively registered, https://clinicaltrials.gov/study/NCT05750667 .
METHODS: We will conduct a hybrid effectiveness-implementation type III randomized controlled trial testing the comparative effectiveness of two strategies for implementing cascade screening with 220 individuals with FH (i.e., probands) per arm identified from a large northeastern health system. The primary implementation outcome is reach, or the proportion of probands with at least one first-degree biological relative (parent, sibling, child) in the USA who is screened for FH through the study. Our secondary implementation outcomes include the number of relatives screened and the number of relatives meeting the American Heart Association criteria for FH. Our secondary clinical effectiveness outcome is post-trial proband cholesterol level. We will also use mixed methods to identify implementation strategy mechanisms for implementation strategy effectiveness while centering equity.
CONCLUSIONS: We will test two patient-facing implementation strategies harnessing insights from behavioral economics that were developed collaboratively with constituents. This trial will improve our understanding of how to implement evidence-based cascade screening for FH, which implementation strategies work, for whom, and why. Learnings from this trial can be used to equitably scale cascade screening programs for FH nationally and inform cascade screening implementation efforts for other genetic disorders.
BACKGROUND: ClinicalTrials.gov, NCT05750667. Registered 15 February 2023-retrospectively registered, https://clinicaltrials.gov/study/NCT05750667 .
摘要：
背景：家族性高胆固醇血症（FH）是一种遗传性疾病，在美国影响130万个体。百分之八十的FH患者未确诊,特别是少数族裔，包括黑人或非裔美国人，亚裔或亚裔美国人，和跨种族群体的女性。家庭级联筛查是一种基于证据的做法，可以增加诊断并改善健康结果，但在常规实践中很少实施。代表着重要的护理差距。在试点工作中,我们利用了行为经济学和实施科学的最佳实践，包括与临床医生进行混合方法上下文调查，病人,和卫生系统组成部分-共同设计两个面向患者的实施策略来解决这一护理差距：（a）自动化卫生系统介导的策略和（b）非营利性基金会介导的策略，与基金会雇用的护理导航员联系。该试验将测试这些策略在完成FH患者亲属级联筛查时的比较有效性，以公平的触角为中心。
方法：我们将进行一项混合有效性-实施III型随机对照试验，测试两种策略对220名FH患者实施级联筛查的比较有效性（即，先证者）从大型东北卫生系统中确定的每支手臂。主要的执行成果是达到，或具有至少一个一级生物学亲属的先证者的比例(父母，兄弟姐妹,儿童)在美国通过研究进行FH筛查。我们的次要实施结果包括筛查的亲属数量和符合美国心脏协会FH标准的亲属数量。我们的次要临床有效性结果是试验后先证者胆固醇水平。我们还将使用混合方法来确定实施战略机制，以提高实施战略的有效性，同时以公平为中心。
结论：我们将测试两种面向患者的实施策略，这些策略利用了行为经济学中与选民合作开发的见解。这项试验将提高我们对如何实施基于证据的级联筛查的理解。哪些实施策略有效，为谁,以及为什么。从该试验中获得的经验教训可用于在全国范围内公平地扩大FH的级联筛查计划，并为其他遗传疾病的级联筛查实施工作提供信息。
背景：ClinicalTrials.gov，NCT05750667。2023年2月15日注册-追溯注册，https://clinicaltrials.gov/study/NCT05750667.
方法：我们将进行一项混合有效性-实施III型随机对照试验，测试两种策略对220名FH患者实施级联筛查的比较有效性（即，先证者）从大型东北卫生系统中确定的每支手臂。主要的执行成果是达到，或具有至少一个一级生物学亲属的先证者的比例(父母，兄弟姐妹,儿童)在美国通过研究进行FH筛查。我们的次要实施结果包括筛查的亲属数量和符合美国心脏协会FH标准的亲属数量。我们的次要临床有效性结果是试验后先证者胆固醇水平。我们还将使用混合方法来确定实施战略机制，以提高实施战略的有效性，同时以公平为中心。
结论：我们将测试两种面向患者的实施策略，这些策略利用了行为经济学中与选民合作开发的见解。这项试验将提高我们对如何实施基于证据的级联筛查的理解。哪些实施策略有效，为谁,以及为什么。从该试验中获得的经验教训可用于在全国范围内公平地扩大FH的级联筛查计划，并为其他遗传疾病的级联筛查实施工作提供信息。
背景：ClinicalTrials.gov，NCT05750667。2023年2月15日注册-追溯注册，https://clinicaltrials.gov/study/NCT05750667.
