Pettit Amy R, Klaiman Tamar, Kersting Rebecca Connelly, Johnson Christina, Ogbuefi Nkiru, Moran Maeve, Sinclair Krystin, Steckel Jenna, Norton Laurie, Orr Jennifer A, Lieberman Adina, McGowan Mary P, Tricou Eric, Chen Jinbo, Rader Daniel J, Volpp Kevin G, Beidas Rinad S
Independent Consultant, Boston, MA, USA.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Implement Sci Commun. 2024 Dec 2;5(1):135. doi: 10.1186/s43058-024-00670-0.
Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition that carries increased risk for premature atherosclerotic cardiovascular disease, cardiovascular events, and death. Due to low uptake of evidence-based practices, up to 80% of FH patients remain undiagnosed and most are undertreated. This project aimed to understand patient and clinician perceptions across the care pathway of evidence-based diagnosis and treatment of FH, to inform implementation strategy design for two clinical trials seeking to increase evidence-based care.
With input from FH experts, we identified key points along the FH care pathway that might be targeted with broad-scale implementation efforts, including: (a) identification of the need for screening; (b) completion of screening test(s); (c) diagnosis; (d) connection to treatment; and (e) family cascade screening (a process used to identify and screen relatives of individuals diagnosed with FH). Then, we conducted qualitative interviews with patients who had participated in a prior FH quality improvement initiative and with clinicians who treat high cholesterol. We analyzed data using thematic analysis.
We interviewed 21 patients and 17 clinicians. Patient themes offered insights related to the impact of family history, reactions to a diagnosis of high cholesterol and/or FH, experiences with FH treatment and clinical care, perceptions of tools to diagnose FH, motivations and preferences for FH screening efforts, and reactions to family screening. Clinician themes offered insights into the perceived value of FH screening and diagnosis, current FH-related practice and context, and attitudes toward tools to aid clinical practice. In both sets of interviews, confusion and misconceptions about what makes FH unique and its clinical implications were common, as were concerns about logistics and competing priorities.
Qualitative inquiry generated insights into several modifiable patient and clinician determinants of engagement with evidence-based implementation along the FH care pathway, many of which can be targeted with behavioral economics strategies that simplify complex decisions and by addressing informational and emotional needs. These findings offer actionable insights to inform future implementation research that seeks to close the evidence-to-practice gap in diagnosis and delivery of evidence-based care for FH.
家族性高胆固醇血症（FH）是一种常染色体显性遗传疾病，会增加早发性动脉粥样硬化性心血管疾病、心血管事件及死亡风险。由于基于证据的实践应用率较低，高达80%的FH患者仍未被诊断出来，且大多数患者治疗不足。本项目旨在了解患者和临床医生对FH循证诊断和治疗护理路径的看法，为两项旨在增加循证护理的临床试验的实施策略设计提供参考。
在FH专家的建议下，我们确定了FH护理路径中可能通过大规模实施工作加以解决的关键点，包括：（a）确定筛查需求；（b）完成筛查测试；（c）诊断；（d）与治疗建立联系；以及（e）家族级联筛查（用于识别和筛查被诊断为FH的个体亲属的过程）。然后，我们对参与过先前FH质量改进计划的患者以及治疗高胆固醇的临床医生进行了定性访谈。我们采用主题分析法对数据进行了分析。
我们访谈了21名患者和17名临床医生。患者主题提供了与家族史影响、对高胆固醇和/或FH诊断的反应、FH治疗和临床护理经历、对FH诊断工具的看法、FH筛查工作的动机和偏好以及对家族筛查的反应相关的见解。临床医生主题提供了对FH筛查和诊断的感知价值、当前FH相关实践和背景以及对辅助临床实践工具的态度的见解。在两组访谈中，对FH的独特之处及其临床意义的困惑和误解很常见，对后勤问题和相互竞争的优先事项的担忧也很常见。
定性调查揭示了FH护理路径中患者和临床医生参与循证实施的几个可改变的决定因素，其中许多因素可以通过简化复杂决策的行为经济学策略以及满足信息和情感需求来加以解决。这些发现为未来的实施研究提供了可操作的见解，旨在缩小FH循证护理诊断和提供方面的证据与实践差距。
