Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.
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DOI：
10.1161/circgen.120.003120
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发表时间：
2021-03
期刊：
影响因子：
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通讯作者：
Sturm AC
中科院分区：
文献类型：
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作者：
Campbell-Salome G;Jones LK;Masnick MF;Walton NA;Ahmed CD;Buchanan AH;Brangan A;Esplin ED;Kann DG;Ladd IG;Kelly MA;Kindt I;Kirchner HL;McGowan MP;McMinn MN;Morales A;Myers KD;Oetjens MT;Rahm AK;Schmidlen TJ;Sheldon A;Simmons E;Snir M;Strande NT;Walters NL;Wilemon K;Williams MS;Gidding SS;Sturm AC
家族性高胆固醇血症（FH）是最常见的心血管遗传性疾病，如果不治疗，与过早动脉粥样硬化性心血管疾病的风险增加有关，这是美国可预防死亡的主要原因。虽然FH是常见的、致命的和可治疗的，但由于缺乏系统的方法来识别FH个体和有限的级联检测，因此诊断不足和治疗不足。这种混合方法，多阶段的研究将优化，测试和实施创新的方法，为FH识别和级联测试在3个目标。为了改进FH个体的识别，在目标1中，我们将比较和改进基于表型的自动化方法和基因组方法，以识别可能患有FH的个体。为了提高高危人群的级联检测率，在目标2中，我们将使用以患者为中心的设计思维过程来优化和开发新颖的、积极的家庭沟通方法。使用一个前瞻性的，观察性的务实试验，我们将评估每一个家庭的沟通方法级联测试的吸收和有效性。在目标3的实施科学框架的指导下，我们将制定一个全面的指南来识别FH患者。使用实施研究的概念模型，我们将评估实施结果，包括可行性，可接受性和感知的可持续性，以及与目标1和2中开发的优化方法和工具相关的健康结果。本研究产生的数据将通过开发和优化工具来改善FH识别和级联检测，从而解决与FH诊断不足相关的护理障碍和差距。
Familial hypercholesterolemia (FH) is the most common cardiovascular genetic disorder and, if left untreated, is associated with increased risk of premature atherosclerotic cardiovascular disease, the leading cause of preventable death in the United States. Although FH is common, fatal, and treatable, it is underdiagnosed and undertreated due to a lack of systematic methods to identify individuals with FH and limited uptake of cascade testing. This mixed-method, multi-stage study will optimize, test, and implement innovative approaches for both FH identification and cascade testing in 3 aims. To improve identification of individuals with FH, in Aim 1, we will compare and refine automated phenotype-based and genomic approaches to identify individuals likely to have FH. To improve cascade testing uptake for at-risk individuals, in Aim 2, we will use a patient-centered design thinking process to optimize and develop novel, active family communication methods. Using a prospective, observational pragmatic trial, we will assess uptake and effectiveness of each family communication method on cascade testing. Guided by an implementation science framework, in Aim 3, we will develop a comprehensive guide to identify individuals with FH. Using the Conceptual Model for Implementation Research, we will evaluate implementation outcomes including feasibility, acceptability, and perceived sustainability as well as health outcomes related to the optimized methods and tools developed in Aims 1 and 2. Data generated from this study will address barriers and gaps in care related to underdiagnosis of FH by developing and optimizing tools to improve FH identification and cascade testing.