Familial hypercholesterolemia (FH) is a genetic condition which causes elevated low-density lipoprotein cholesterol from birth. With a prevalence of 1 in 250 and the availability of effective treatments, the diagnostic rate of #x3c;1 to 10% is unacceptably low. Screening for FH is supported by multiple organizations, but it has not been broadly adopted and implemented across the USA. To investigate the implementation of FH screening, key informants were recruited from across the USA for their expertise in FH-related literature, guidelines, public health, and/or advocacy to complete ­semistructured interviews guided by implementation science (RE-AIM framework). Sixteen semistructured interviews were analyzed with directed content and thematic analyses, yielding specific barriers and recommendations to improve FH screening. Barriers to FH screening included patient recruitment and participation, equitable access to healthcare, provider discomfort with screening and treating FH, provider burden, lack of public health and legislative support, FH awareness, guideline complexity, facilitation of genetic testing and cascade screening, and lack of coordination between stakeholders. Awareness, engagement, communication, and collaboration between stakeholders is integral to successful FH screening. Individualized plans will be required at national, regional, and institutional levels. FH screening implementation can be achieved through practice facilitation, streamlined screening approaches, electric medical record tools, and consensus guidelines to increase screening adoption and consistent delivery. Reliable funding and established lines of communication between stakeholders can maintain efforts as FH screening progresses.
Public Health Genomics

中文翻译：

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开发用于克服美国家族性高胆固醇血症诊断不足的实施框架

家族性高胆固醇血症 (FH) 是一种遗传性疾病，可导致出生时低密度脂蛋白胆固醇升高。由于 250 分之一的患病率和有效治疗的可用性，#x3c;1 到 10% 的诊断率低得令人无法接受。FH 筛查得到多个组织的支持，但尚未在美国广泛采用和实施。为了调查 FH 筛查的实施，从美国各地招募了关键知情人，因为他们在 FH 相关文献、指南、公共卫生和/或倡导方面具有专业知识，以完成由实施科学（RE-AIM 框架）指导的半结构化访谈。对 16 次半结构化访谈进行了定向内容和主题分析，产生了改进 FH 筛查的具体障碍和建议。FH 筛查的障碍包括患者招募和参与、公平获得医疗保健、提供者对筛查和治疗 FH 感到不适、提供者负担、缺乏公共卫生和立法支持、FH 意识、指南复杂性、基因检测和级联筛查的便利化以及缺乏利益相关者之间的协调。利益相关者之间的意识、参与、沟通和协作是成功筛查 FH 不可或缺的一部分。需要在国家、地区和机构层面制定个性化计划。FH 筛查的实施可以通过实践促进、简化的筛查方法、电子病历工具和共识指南来实现，以增加筛查的采用和一致的交付。
公共卫生基因组学