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除了诊断之外:使用随机评估来评估罕见疾病诊断的全基因组测序

Michael Abbott¹, Mandy Ryan², Rodolfo Hernández²

¹Health Economics Research Unit, University of Aberdeen, Aberdeen, UK. michael.abbott@ed.ac.uk.

Applied health economics and health policy

|March 14, 2025

概括

全基因组测序提供了诊断之外的重要价值,患者愿意为更快的结果和更好的支持支付更多费用. 了解用户的观点是改善基因组测试服务的关键.

科学领域:

基因组学就是基因组学.
卫生经济学卫生经济学
患者报告的结果

背景情况:

全基因组测序效用通常通过诊断产量来衡量.
患者价值观超越了诊断范围,包括临床,信息,过程和心理因素.
这项研究探讨了苏格兰全基因组测序的用户观点.

研究的目的:

从患者的角度确定全基因组测序的经济价值.
确定影响患者支付基因组测试费用意愿的因素.
评估全基因组测序的个人实用性和心理影响.

主要方法:

在苏格兰,对1014名患有罕见疾病的患者和家属进行了调查.
条件估值方法,以引起愿意支付基因组测试的意愿.
使用个人实用性量表 (PrU) 和对基因组测试结果的感受 (FACTOR) 问卷.
采用双障碍回归模型来分析支付意愿的预测因素.

主要成果:

有171份调查问卷被返回.
被诊断的参与者报告了比未被诊断的更高的个人实用性 (PrU).
两组都报告了类似的负面心理结果 (FACTOR).
对被诊断的参与者支付的意愿为2043英,而未被诊断的参与者为835英.
诊断状态,等待时间和负面的心理结果影响了估值.

结论:

诊断至关重要,但非诊断结果也具有重要价值.
结果为有针对性的遗传咨询和高效的测序管道提供信息.
优先考虑用户体验符合以患者为中心的医疗保健.

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