Mainstreaming Genetics: A Comparative Review of Clinical Services for Inherited Cardiovascular Conditions in the UK
Mainstreaming Genetics: A Comparative Review of Clinical Services for Inherited Cardiovascular Conditions in the UK
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DOI：
10.1159/000279625
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发表时间：
2010-01-01
影响因子：
1.7
通讯作者：
Stewart, A.
中科院分区：
文献类型：
--
作者：
Burton, H.;Alberg, C.;Stewart, A.
遗传性心血管疾病 (ICC) 是一组由心脏或其脉管系统的电和收缩系统组件突变引起的单基因疾病。 ICC 包括心律失常、心肌病、遗传性动脉病（如马凡综合征）、肌营养不良症和家族性高胆固醇血症。关于 ICC 的流行病学数据很少，但对现有文献的调查表明，英国（6100 万人口）大约有 34 万例此类疾病的流行病例。由于对 ICC 分子病理学理解的巨大进步，超过 50 种 ICC 已得到认可，并且诊断性基因测试也越来越可用。作为需求评估和 ICC 服务提供审查的一部分，对所有英国 ICC 服务进行了调查，重点关注定量和定性方面。人们发现服务提供非常不公平，英国不同地区之间的转诊率和基因检测率通常存在 10-20 倍的差异。伦敦每百万人口的服务水平远高于除其中一个地区以外的所有地区。审查得出的结论是，服务能力不足以满足当前或未来的需求，许多服务缺乏提供全方位服务的临界质量。为适合未来的服务开发提出了建议。服务应由心脏病学主导，但与临床遗传学服务密切联系，临床遗传学服务应提供专业遗传学建议和级联测试的支持。最后，考虑了本次审查的国际相关性。版权所有 (C) 2010 S. Karger AG，巴塞尔
Inherited cardiovascular conditions (ICCs) are a group of monogenic disorders caused by mutations in the components of the electrical and contractile system of the heart or its vasculature. ICCs include arrhythmias, cardiomyopathies, inherited arteriopathies such as Marfan syndrome, muscular dystrophies, and familial hypercholesterolaemia. Epidemiological data on ICCs are sparse but a survey of the available literature suggests that there are approximately 340,000 prevalent cases of these conditions in the UK (population 61 million). As a result of dramatic advances in understanding of the molecular pathology of ICCs, more than 50 ICCs have been recognised, and diagnostic genetic tests are increasingly available. As part of a needs assessment and review of provision of ICC services, a survey of all UK ICC services was undertaken focusing on both quantitative and qualitative aspects. Service provision was found to be highly inequitable, with typically a 10-20-fold variation in referral and genetic testing rates between different UK regions. Service levels per million population are much higher in London than in all but one of the regions. The review concluded that capacity of services is inadequate to meet current or future demand and many services lack the critical mass to provide the full range of services. Recommendations are made for the development of services appropriate for the future. Services should be led by cardiology but have close links with clinical genetics services, which should provide support with specialist genetics advice and cascade testing. Finally, the international relevance of this review is considered. Copyright (C) 2010 S. Karger AG, Basel