■心血管疾病仍然是全球死亡的主要原因。旨在改善疾病管理并积极影响主要心脏不良事件的临床实践指南建议对遗传性心血管疾病(如扩张型心肌病(DCM))进行基因检测。肥厚型心肌病(HCM),长QT综合征(LQTS),遗传性淀粉样变性,和家族性高胆固醇血症(FH);然而,在常规临床实践中,从业人员如何一致地订购这些疾病的基因检测鲜为人知。这项研究旨在评估对诊断为DCM的患者采用指南指导的基因检测。HCM,LQTS,遗传性淀粉样变性,或者FH.
这项回顾性队列研究从ICD-9-CM和ICD-10-CM编码中捕获了基因检测的现实证据,程序代码,以及与保险索赔数据相关的VeradigmHealthInsights动态EHR研究数据库中取消识别的患者记录的结构化文本字段。使用自动电子健康记录分析引擎进行数据分析。Veradigm数据库中的患者记录来自超过250,000名临床医生,为美国的门诊初级保健和专业实践环境中的1.7亿患者提供服务,以及来自公共和私人保险提供商的相关保险索赔数据。主要结果指标是在病情诊断后六个月内进行基因检测的证据。
■在2017年1月1日至2021年12月31日之间,有224,641例患者被新诊断为DCM,HCM,LQTS,遗传性淀粉样变性,或FH并纳入本研究。确定了实质性的遗传测试护理差距。只有一小部分新诊断为DCM的患者(827/101,919;0.8%),HCM(253/15,507;1.6%),LQTS(650/56,539;1.2%),遗传性淀粉样变性(62/1,026;6.0%),或FH(718/49,650;1.5%)接受了基因检测。
■基因检测在多种遗传性心血管疾病中没有得到充分利用。这种现实世界的数据分析提供了对美国基因组医疗保健交付的见解,并表明在实践中很少遵循基因检测指南。
UNASSIGNED: Cardiovascular disease continues to be the leading cause of death globally. Clinical practice
guidelines aimed at improving disease management and positively impacting major cardiac adverse events recommend genetic testing for inherited cardiovascular conditions such as dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), hereditary amyloidosis, and familial hypercholesterolemia (FH); however, little is known about how consistently practitioners order genetic testing for these conditions in routine clinical practice. This study aimed to assess the adoption of
guideline-directed genetic testing for patients diagnosed with DCM, HCM, LQTS, hereditary amyloidosis, or FH.
UNASSIGNED: This retrospective cohort study captured real-world evidence of genetic testing from ICD-9-CM and ICD-10-CM codes, procedure codes, and structured text fields of de-identified patient records in the Veradigm Health Insights Ambulatory EHR Research Database linked with insurance claims data. Data analysis was conducted using an automated electronic health record analysis engine. Patient records in the Veradigm database were sourced from more than 250,000 clinicians serving over 170 million patients in outpatient primary care and specialty practice settings in the United States and linked insurance claims data from public and private insurance providers. The primary outcome measure was evidence of genetic testing within six months of condition diagnosis.
UNASSIGNED: Between January 1, 2017, and December 31, 2021, 224,641 patients were newly diagnosed with DCM, HCM, LQTS, hereditary amyloidosis, or FH and included in this study. Substantial genetic testing care gaps were identified. Only a small percentage of patients newly diagnosed with DCM (827/101,919; 0.8%), HCM (253/15,507; 1.6%), LQTS (650/56,539; 1.2%), hereditary amyloidosis (62/1,026; 6.0%), or FH (718/49,650; 1.5%) received genetic testing.
UNASSIGNED: Genetic testing is underutilized across multiple inherited cardiovascular conditions. This real-world data analysis provides insights into the delivery of genomic healthcare in the United States and suggests genetic testing
guidelines are rarely followed in practice.