Cardiology Department, Dubrava University Hospital, Zagreb, Croatia.
Heart Rhythm Management Center, Universitair Ziekenhuis Brussel-Vrije Universiteit, Brussels, Belgium.
Europace. 2024 Aug 30;26(9). doi: 10.1093/europace/euae216.
Indications and clinical impact of genetic testing for cardiac diseases have increased significantly over the past years. The aim of this physician-based European Heart Rhythm Association (EHRA) survey was to assess current clinical practice and access to genetic testing for cardiac diseases across European Society of Cardiology countries and to evaluate adherence to the 2022 EHRA/HRS/APHRS/LAHRS Expert Consensus Statement on genetic testing.
An online questionnaire composed of 28 questions was submitted to the EHRA Research Network and European Reference Network GUARD-Heart healthcare partners and promoted via dedicated social media channels. There were 357 respondents from 69 countries, 40% working in a hospital setting with a cardiac genetic service and/or a dedicated clinic focusing on inherited cardiac diseases and 27% with an onsite genetic laboratory. No genetic testing or low annual rate (<10/year) was declared by 39% of respondents. The majority of respondents (78%) declared issues or limitations to genetic testing access in their clinical practice. The main reasons for not providing or limited access to genetic testing were no availability of dedicated unit or genetic laboratory (35%) or reimbursement issues (25%). The most frequently reported indication for genetic testing was diagnostic purpose (55%). Most respondents (92%) declared offering genetic testing preceded by genetic counselling and 42% regular multidisciplinary evaluations for patients with cardiac genetic diseases. The perceived value of genetic testing in the diagnostic, prognostic, and therapeutic assessment was variable (67, 39, and 29%, respectively) and primarily based on the specific inherited disease. The majority of respondents recommended cascade genetic testing for the first-degree family members in case of pathogenic/likely pathogenic variant in the proband.
This survey highlights a significant heterogeneity of genetic testing access and provision and issues attributable to the availability of dedicated unit/genetic laboratory and reimbursement. However, adequate adherence to indications in the current recommendations for genetic testing in patients with cardiac diseases was observed.
近年来，心脏疾病基因检测的适应证和临床影响显著增加。这项由医生主导的欧洲心脏病学会（ESC）心律协会（EHRA）调查旨在评估欧洲心脏病学会国家目前心脏疾病基因检测的临床实践和可及性，并评估对 2022 年 EHRA/HRS/APHRS/LAHRS 专家共识声明中基因检测的遵循情况。
我们向 EHRA 研究网络和 ESC 参考网络 GUARD-Heart 医疗保健合作伙伴提交了一份由 28 个问题组成的在线问卷，并通过专门的社交媒体渠道进行了推广。共有来自 69 个国家的 357 名受访者，其中 40%在设有心脏遗传服务和/或专注于遗传性心脏疾病的专门诊所的医院工作，27%的人在现场设有遗传实验室。39%的受访者表示没有进行基因检测或每年进行的基因检测数量较少（<10/年）。大多数受访者（78%）表示在其临床实践中存在基因检测获取方面的问题或限制。不提供或限制基因检测的主要原因是没有专门的单位或遗传实验室（35%）或报销问题（25%）。报告最多的基因检测适应证是诊断目的（55%）。大多数受访者（92%）表示在提供基因检测之前提供遗传咨询，42%的人对患有心脏遗传疾病的患者进行定期多学科评估。遗传检测在诊断、预后和治疗评估中的价值各不相同（分别为 67%、39%和 29%），主要取决于特定的遗传性疾病。大多数受访者建议对先证者中致病性/可能致病性变异的一级亲属进行连锁遗传检测。
这项调查强调了基因检测可及性和提供的显著异质性，以及归因于专门单位/遗传实验室和报销的问题。然而，观察到对当前心脏疾病患者基因检测建议中适应证的充分遵循。
