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儿科的早期遗传测试:诊断和成本的影响

Shanna M Swartwood¹, Ana Morales², Kathryn E Hatchell²

¹Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.

|December 10, 2023

概括

使用多基因面板 (MEP) 进行儿科早期遗传测试,导致诊断测试减少,医疗保健成本降低. 这种方法有助于更快地识别遗传原因,改善患者的治疗结果并降低整体费用.

科学领域:

儿科神经学儿科神经学
临床遗传学临床遗传学
医疗保健经济学医疗保健经济学

背景情况:

基因性病越来越多地被发现,这推动了对诊断的基因检测的使用.
儿童患有未知病因的会带来诊断挑战,并有可能广泛利用医疗保健.

研究的目的:

通过多基因小组 (MEP) 测试获得遗传诊断的未知病因的儿科患者的诊断评估和医疗费用进行比较.
评估早期 (EGT) 与晚期 (LGT) 基因测试对诊断工作和支出的影响.

主要方法:

对接受MEP检测的未知病因的儿科患者 (1-17岁) 的回顾性图表审查.
基因检测的分类是早期 (<1年) 或晚期 (>1年) 的临床后诊断.
在EGT和LGT队列之间比较非诊断性测试,侵入性手术和临床管理变化.

主要成果:

在226名患者中,28名 (12%) 患有通过MEP检测发现的致病性变异.
EGT队列 (n=8) 显示基因诊断的平均时间为0.25年,而LGT队列 (n=20) 的平均时间为7.1年.
与LGT相比,EGT患者接受的代谢测试显著减少 (0%与80%,P<0.01) 和侵入性手术减少 (0%与25%,P=0.06).

结论:

在未知病因的儿科患者中,使用MEP的早期遗传测试 (EGT) 与更简单的诊断过程有关.
EGT可以减少非诊断性测试和侵入性手术,从而降低整体医疗保健成本.
通过MEP测试进行遗传诊断可以为临床管理提供信息,在EGT和LGT组中观察到类似的管理变化率.

关键词:

是一种.遗传学遗传学遗传学遗传学是一个医疗保健成本医疗保健成本多基因的小组.儿科儿科儿科

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