Zachary Salvati MS, Lauren Carr BA, Dylan Cawley MPH, Amy Kontorovich MD, Vikas Pejaver PhD, Tyler Schubert BA, Samuel Gidding MD, Matthew Oetjens PhD, Laney Jones PharmD, Gemme Campbell-Salome PhD
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Next, most PCPs and genetic counselors responded with positive reactions to an ASCVD risk stratification tool that incorporates genomic information, however, cardiology specialists expressed hesitancy to trust this such a tool. 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引用次数: 0
摘要
研究经费本摘要中报告的研究得到了美国国立卫生研究院国家心肺血液研究所(National Heart, Lung, and Blood Institute of the National Institutes of Health)的支持,奖励号为 R01HL159182:R01HL159182.背景/简介遗传学研究表明,严重高胆固醇血症(定义为 LDL-C >190mg/dL)可分为四种亚型:单基因家族性高胆固醇血症(FH)、多基因高胆固醇血症、脂蛋白(a)升高,以及无遗传病因但有或无阳性家族史的严重高胆固醇血症。这些信息有望改善严重高胆固醇血症患者的动脉粥样硬化性心血管疾病(ASCVD)风险分层。由于严重高胆固醇血症表型的复杂性和异质性,我们评估了向患者传达 ASCVD 风险信息的医疗服务提供者的准备情况和需求。方法通过视频会议对严重高胆固醇血症患者的医疗服务提供者进行了半结构化访谈。访谈者向参与者描述了四种分类亚型,并邀请他们回答与每种亚型患者沟通的假设情景。采访人员还询问参与者在风险分层工具包含基因组信息的情况下将如何应对。访谈结果访谈对象是来自一个综合医疗系统的 11 名医疗服务提供者(5 名初级保健提供者 (PCP)、3 名心脏病学专家和 3 名遗传咨询师)。在对医疗服务提供者的访谈中,我们发现了管理每种亚型的四种模式(见表 1)。首先,医疗服务提供者描述了他们如何对待不同亚型的患者并与他们交谈,这揭示了不同临床专业之间的主要差异。大多数初级保健医生表示对亚型之间的差异缺乏了解,但表示有兴趣了解并遵循针对每种亚型的治疗建议。其次,医疗服务提供者推荐了他们和患者所需的不同沟通资源,以便有效地讨论和应对每种亚型的 ASCVD 风险。其次,大多数初级保健医生和遗传咨询师对结合基因组信息的 ASCVD 风险分层工具反应积极,但心脏病学专家对是否信任这种工具表示犹豫。最后,医疗服务提供者就如何实施包括基因组学风险分层工具在内的项目提出了建议,以便更好地护理每种亚型的患者。结论要设计和实施一项识别和管理严重高胆固醇血症的项目,医疗保健系统应利用医疗服务提供者对 ASCVD 风险分层重要性的重视,克服目前与严重高胆固醇血症病因相关的知识有限这一障碍。
^Improving Risk Stratification in Severe Hypercholesterolemia: Provider Recommendations for Developing a Program to Communicate ASCVD Risk
Study Funding
Research reported in this abstract was supported by the National Heart, Lung, and Blood Institute of the National Institutes of Health under award number: R01HL159182.
Background/Synopsis
Genetic studies suggest that severe hypercholesterolemia (defined as LDL-C >190mg/dL) can be categorized into four subtypes: monogenic familial hypercholesterolemia (FH), polygenic hypercholesterolemia, elevated lipoprotein(a), and severe hypercholesterolemia with or without a positive family history in the absence of a genetic cause. This information has the potential to improve atherosclerotic cardiovascular disease (ASCVD) risk stratification of individuals affected with severe hypercholesterolemia. By improving understanding and management of the subtypes, health systems can reduce the burden of ASCVD morbidity and mortality in this high-risk population.
Objective/Purpose
Due to the complexity and heterogeneity of the severe hypercholesterolemia phenotype, we assessed the readiness and needs of providers who communicate ASCVD risk information to affected individuals.
Methods
Semi-structured interviews were conducted via videoconference with providers who care for patients with severe hypercholesterolemia. Interviewers described the four classification subtypes to participants and invited responses to hypothetical scenarios involving communication with a patient with each subtype. Interviewers also asked participants how they would respond to a scenario in which a risk stratification tool included genomic information. Participants were compensated after interviews were completed.
Results
Interviews were completed with 11 providers (5 primary care providers (PCPs), 3 cardiology specialists, and 3 genetic counselors) from a single integrated healthcare system. Four patterns from provider interviews emerged about managing each subtype (see Table 1). First, providers described how they would treat and talk with patients across subtypes, which revealed key differences between clinical professions. Most PCPs described a lack of knowledge about the differences among subtypes but expressed interest in understanding and following treatment recommendations for each subtype. Second, providers recommended varying communication resources they and their patients would need to effectively talk about and address the ASCVD risks of each subtype. Next, most PCPs and genetic counselors responded with positive reactions to an ASCVD risk stratification tool that incorporates genomic information, however, cardiology specialists expressed hesitancy to trust this such a tool. Finally, providers gave recommendations for how to implement a program including the genomics informed risk stratification tool to better care for patients with each subtype.
Conclusions
To design and implement a program to identify and manage severe hypercholesterolemia, health care systems should leverage the value providers place on the importance of ASCVD risk stratification to overcome the barrier of current limited knowledge related the causes of severe hypercholesterolemia.
期刊介绍:
Because the scope of clinical lipidology is broad, the topics addressed by the Journal are equally diverse. Typical articles explore lipidology as it is practiced in the treatment setting, recent developments in pharmacological research, reports of treatment and trials, case studies, the impact of lifestyle modification, and similar academic material of interest to the practitioner. While preference is given to material of immediate practical concern, the science that underpins lipidology is forwarded by expert contributors so that evidence-based approaches to reducing cardiovascular and coronary heart disease can be made immediately available to our readers. Sections of the Journal will address pioneering studies and the clinicians who conduct them, case studies, ethical standards and conduct, professional guidance such as ATP and NCEP, editorial commentary, letters from readers, National Lipid Association (NLA) news and upcoming event information, as well as abstracts from the NLA annual scientific sessions and the scientific forums held by its chapters, when appropriate.