Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH

帮助每个患有家族性高胆固醇血症的人的协作方法：CARE-FH

• 批准号: 10368422
• 负责人: Samuel S. Gidding
• 金额: $ 42.29万
• 依托单位: GEISINGER CLINIC
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-02-01 至 2023-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10368422
• 关键词: Address; Adherence; Adolescent; Adult; Affect; Age; Algorithms; Atherosclerosis; Awareness; Cardiovascular system; Caring; Child; Childhood; Cholesterol; Clinic; Clinical; Clinical Trials; Code; Community Health; Consent; Consultations; Data; Data Science; Diagnosis; Diagnostic; Early Diagnosis; Early identification; Early treatment; Education; Educational Intervention; Electronic Health Record; Elements; Ethnic Origin; Evaluation; Familial Hypercholesterolemia; Genetic Counseling; Genetic Diseases; Genomics; Goals; Guidelines; Health; Healthcare Systems; Individual; Informatics; Insurance Coverage; Integrated Health Care Systems; Intervention; Life; Link; Lipids; Longterm Follow-up; Low-Density Lipoproteins; Machine Learning; Measures; Medical; Modeling; Morbidity - disease rate; Myocardial Infarction; Outcome; Outcome Assessment; Output; Patient-Focused Outcomes; Patients; Pediatrics; Pharmaceutical Preparations; Prevalence; Primary Health Care; Program Sustainability; Race; Recommendation; Research; Resources; Rural; Schedule; Science; Self Efficacy; Services; Specialist; Testing; Time; Translations; United States; Work; base; cardiovascular disorder prevention; clinical practice; clinical trial implementation; collaborative approach; cost; design; diagnostic tool; effectiveness implementation study; effectiveness implementation trial; evidence base; evidence based guidelines; exome sequencing; genetic counselor; genetic testing; health care settings; human centered design; implementation framework; implementation measures; implementation research; implementation science; implementation strategy; implementation tool; improved; insight; interest; medical specialties; mortality; multidisciplinary; pediatric patients; premature; prevent; primary care setting; primary outcome; programs; satisfaction; screening; screening guidelines; success; tool; treatment optimization; uptake; urban area

PROJECT SUMMARY Familial hypercholesterolemia (FH) is a common genetic disorder (prevalence 1 in 250) that requires lifelong sustained medical care. Evidence-based guidelines for screening and treatment for FH exist. These include universal screening of children ages 9-11, of adolescents ages 18-20, and of adults ages 40 and above; approved diagnostic tools including lipid panels and genetic testing; and recommendations for initiation of lipid lowering medication. FH diagnosis is currently made too late in life, often after a premature heart attack has occurred creating a care gap that results in excess cardiovascular morbidity and mortality. Diagnosing FH in the primary care setting would optimize treatment for individuals with FH and close this care gap. Utilizing tools from implementation science and human centered design, and by considering uptake, acceptability, and sustainability of programs related to FH care should improve earlier diagnosis. Implementation strategies that include insights from patients, clinicians, and healthcare systems are necessary. Our long-term goal is to create an effective FH diagnosis program that is practical and sustainable in the real-world setting. The main objective of this project is to determine the uptake of an FH diagnosis program integrated into primary care practices to promote early identification of adult and pediatric patients that is generalizable to other healthcare settings. Our research question is, does using a multi-level implementation strategy package, designed to address the specific needs of patients, clinicians, and healthcare systems, improve the diagnosis and activation of care management for individuals with FH. Our specific aims are to: 1) to design a clinical trial to assess multi-level implementation strategies for improving FH diagnosis in an integrated health system, 2) compare FH diagnosis rates among primary care clinicians who receive the implementation strategy package versus those who do not, 3) to measure implementation success of an organized FH diagnosis program, and 4) to explore patient-related service and health outcomes related to an FH diagnosis program.

项目概要 家族性高胆固醇血症 (FH) 是一种常见的遗传性疾病（患病率为 250 人中就有 1 人），需要终身治疗 持续的医疗护理。现有 FH 筛查和治疗的循证指南。这些包括 对9-11岁儿童、18-20岁青少年和40岁及以上成年人进行普遍筛查； 批准的诊断工具，包括血脂检测和基因检测；以及启动脂质的建议 减少用药。目前，FH 诊断为时已晚，通常是在过早心脏病发作之后。 造成护理差距，导致心血管发病率和死亡率过高。诊断 FH 初级保健机构将优化 FH 患者的治疗并缩小这一护理差距。使用工具 来自实施科学和以人为本的设计，并考虑采用率、可接受性和 与 FH 护理相关的计划的可持续性应能改善早期诊断。实施策略 包括患者、临床医生和医疗保健系统的见解是必要的。我们的长期目标是 创建一个在现实环境中实用且可持续的有效 FH 诊断计划。主要 该项目的目标是确定将 FH 诊断计划纳入初级保健的情况 促进成人和儿童患者早期识别的实践，可推广到其他医疗保健 设置。我们的研究问题是，是否使用多层次的实施策略包，旨在 满足患者、临床医生和医疗保健系统的特定需求，改善诊断和 激活 FH 患者的护理管理。我们的具体目标是：1）设计临床试验 评估在综合卫生系统中改善 FH 诊断的多层次实施策略，2) 比较接受实施策略包的初级保健临床医生的 FH 诊断率 与那些不这样做的人相比，3) 衡量有组织的 FH 诊断计划的实施成功率，以及 4) 探索与 FH 诊断计划相关的患者相关服务和健康结果。