Vartak Natasha, Gruber Dorota, Azari Bani, Ahmad Zahid, Huang Xueqi, Fishbein Joanna, Hirsh Benjamin, Frangeskos Julia, Gianos Eugenia
Northwell Health, Cardiovascular Institute, New Hyde Park, NY, USA.
University of Texas Southwestern Medical Center, Division of Endocrinology, Dallas, TX, USA.
Am J Prev Cardiol. 2025 Jul 19;23:101066. doi: 10.1016/j.ajpc.2025.101066. eCollection 2025 Sep.
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.
对脂质紊乱进行基因检测可以改善患者及其家庭成员的心血管风险分层，然而在临床实践中其使用频率仍然较低。与成本、保险和服务实施相关的可感知障碍可能是其使用受限的部分原因。整合心脏基因组学团队可以简化基因检测、咨询和保险审批流程。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月期间因脂质异常以及个人和/或家族性动脉粥样硬化性心血管疾病而转诊至我们心脏基因组学团队的99例患者进行了回顾性病历审查。在18例携带致病变异的患者中，50%的患者治疗方案有所调整，与检测结果为阴性的患者相比，其低密度脂蛋白胆固醇（LDL-C）总体下降幅度更大。大多数患者无需事先获得授权，基因检测费用可由保险支付。我们的研究表明，进行基因检测是可行的，值得重新关注其实施情况，并开展进一步研究以了解此类项目的临床影响和社会经济障碍。
