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首页> 美国卫生研究院文献>Journal of Community Genetics >The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study
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The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study

机译：基因检测对遗传性心律失常的可及性和利用：加拿大横断面调查研究

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The genetic basis of many sudden death-related conditions has been elucidated. These include inherited arrhythmias and arrhythmogenic cardiomyopathies, termed inherited heart rhythm disorders (IHRD). Advising on and interpreting genetic testing is challenging for the general cardiologist. This has led to the development of interdisciplinary clinics for IHRD in varying stages of establishment in Canada. We sought the viewpoints and patterns of practice of Canadian IHRD experts, and assessed their ability to access genetic testing for IHRD using a national cross-sectional survey. Of 56 participants, most were physicians (68%) or genetic counselors (19%). Despite working collaboratively, most genetic counselors (59%) were either not satisfied or only somewhat satisfied with their relationships with physicians. Ninety percent of participants were involved in offering genetic evaluation, including 80% who felt that testing was usually/always accessible. Most offered genetic testing to confirm clinical diagnosis and/or direct family screening. Post-mortem genetic analysis was sought by 69% of respondents; however, a lack of retained tissue and/or poor tissue preparation hindered this process. Family screening was usually recommended in the setting of a pathogenic/likely pathogenic variant. The most commonly perceived barrier to genetic testing was cost to the healthcare system. More than a quarter of patients waited ≥ 6 months for funding. An ability to engage at-risk relatives was rated as limited/poor by 34% of participants. Despite the establishment of several interdisciplinary clinics, timely access to affordable testing, supported by strong team communication, continues to be a barrier to genetic testing in Canada.Electronic supplementary materialThe online version of this article (10.1007/s12687-017-0348-y) contains supplementary material, which is available to authorized users.
机译：已经阐明了许多与死亡有关的突发疾病的遗传基础。这些包括遗传性心律失常和致心律失常性心肌病，称为遗传性心律失常（IHRD）。对于普通的心脏病专家来说，建议和解释基因测试是具有挑战性的。这导致了在加拿大成立的不同阶段，IHRD跨学科诊所的发展。我们征求了加拿大IHRD专家的观点和实践模式，并使用国家横断面调查评估了他们获得IHRD基因检测的能力。在56名参与者中，大多数是医师（68％）或遗传咨询师（19％）。尽管进行了合作，但大多数遗传咨询师（59％）对他们与医生的关系不满意或仅略感满意。 90％的参与者参与了基因评估，包括80％的人认为测试通常/始终可以进行。大多数提供基因检测以确认临床诊断和/或直接家庭筛查。 69％的受访者要求进行尸检后的基因分析；然而，缺乏保留的组织和/或不良的组织准备阻碍了该过程。通常建议在病原/可能病原体变异的背景下进行家庭筛查。基因检测最常被认识的障碍是医疗系统的成本。超过四分之一的患者等待≥6个月的资金。 34％的参与者将与高风险亲戚的互动能力评为受限/贫困。尽管建立了多个跨学科诊所，但在强有力的团队沟通的支持下，及时获得负担得起的测试仍然是加拿大基因测试的障碍。电子补充材料本文的在线版本（10.1007 / s12687-017-0348-y）包含补充材料，授权用户可以使用。

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