实施一个专门的心脏基因组学团队脂质疾病:来自单一大型卫生系统的见解

IF 5.9 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS
Natasha Vartak , Dorota Gruber , Bani Azari , Zahid Ahmad , Xueqi Huang , Joanna Fishbein , Benjamin Hirsh , Julia Frangeskos , Eugenia Gianos
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引用次数: 0

摘要

脂质紊乱的基因检测可以改善患者及其家庭的心血管风险分层,但在临床实践中仍然很少使用。与成本、保险和服务实施有关的障碍可能是使用有限的部分原因。整合心脏基因组学团队可以简化基因检测、咨询和保险审批。为了评估基因检测在临床护理中的实用性和可行性,我们对2018年7月至2022年8月期间99名因脂质异常以及动脉粥样硬化性心血管疾病的个人和/或家族史而转介到我们心脏基因组学团队的患者进行了回顾性图表回顾。在18名致病变异的患者中,50%的患者对治疗进行了修改,总体而言,与阴性结果相比,LDL-C的降低幅度更大。大多数患者不需要事先授权,基因检测也在保险范围内。我们的研究表明,获得基因检测是可行的,需要重新关注实施,进一步研究,以了解此类项目的临床影响和社会经济障碍。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Implementing a specialized cardiogenomics team for lipid disorders: Insights from a single large health system
Genetic testing for lipid disorders can improve cardiovascular risk stratification in patients and their families, however it remains infrequently used in clinical practice. Perceived obstacles related to cost, insurance, and implementation of services may account for some of the limited use. Integration of a cardiogenomics team can streamline genetic testing, counseling, and insurance approval. In order to assess the utility and feasibility of genetic testing in clinical care, we conducted a retrospective chart review of 99 patients referred to our cardiogenomics team for lipid abnormalities and personal and/or family history of atherosclerotic cardiovascular disease from July 2018 to August 2022. Of the 18 patients with pathogenic variants, 50 % had a modification made to therapy and overall experienced greater reductions in LDL-C compared to those with negative results. Most patients did not require prior authorization and had genetic testing covered by insurance. Our study shows that access to genetic testing is feasible, warranting a renewed focus on implementation with further research to understand the clinical impact and socioeconomic barriers to such programs.
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来源期刊
American journal of preventive cardiology
American journal of preventive cardiology Cardiology and Cardiovascular Medicine
CiteScore
6.60
自引率
0.00%
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0
审稿时长
76 days
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