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在欧洲范围内关于的遗传检测的可访问性,可用性和常见实践:对欧洲参考网络EpiCARE的调查

Maria T Papadopoulou¹, Lorenzo Muccioli^2,3, Francesca Bisulli^2,3

¹Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, Lyon, France.

|March 22, 2024

概括

对的遗传检测在欧洲各地有很大差异,影响了临床实践. 改善接入和标准化指导对于减少诊断延迟和成本至关重要.

科学领域:

遗传学和基因组学遗传学和基因组学
神经学神经学
临床实践临床实践

背景情况:

基因测试的快速发展可能会造成资源的差异,影响治疗.
欧洲罕见和复杂病参考网络 (ERN) (EpiCARE) 旨在应对这些挑战.

研究的目的:

在ERN EpiCARE中心调查基因测试的可访问性,可用性,成本和标准实践.
确定基因测试资源的不平等及其对欧洲临床实践的影响.

主要方法:

在ERNEpiCARE中心的70名代表中分发了一份在线调查.
数据是使用谷歌表格收集的,并使用描述性统计和定性方法进行分析.

主要成果:

来自23个欧洲国家的45个回复显示了基因测试的显著差异.
人们注意到对全基因组测序 (WGS) 的访问有限,其中45%的中心缺乏完整的测试可用性.
成本差异很大 (IQR:150-1173欧元),结果的时间在紧急测试中从2天到2个月不等,在非紧急全外组测序中从6到128周不等.
专家对一线遗传测试选择的一致意见在所有情景中都低于50%.

结论:

遗传测试成本,周转时间和测试选择在欧洲存在显著差异.
提高基因测试的可用性和明确的指导对于优化诊断和降低医疗保健费用至关重要.
爱皮凯尔旨在在欧洲范围内标准化罕见和复杂的遗传检测的最佳实践.

关键词:

在ERN的EpiCARE中心.整个基因组的测序.在性遗传检测中常见的做法基因测试成本和可用性方面的差异.提供病护理的服务.紧急的基因检测紧急的基因检测

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