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The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2020-08-25 , DOI: 10.1038/s41436-020-00949-2
Ilias Goranitis 1, 2, 3 , Stephanie Best 2, 3, 4 , Zornitza Stark 2, 3, 5 , Tiffany Boughtwood 2, 3 , John Christodoulou 2, 3, 5
Affiliation  

Purpose

To estimate the value of genomic sequencing for complex pediatric neurological disorders of suspected genetic origin.

Methods

A discrete choice experiment (DCE) was undertaken to elicit societal preferences and values. A Bayesian D-efficient and explicit partial profile design was used. The design included 72 choice tasks, split across six blocks, with eight attributes (three overlapping per choice task) and three alternatives. Choice data were analyzed using a panel error component mixed logit model and a latent class model. Preference heterogeneity according to personal socioeconomic, demographic, and attitudinal characteristics was explored using linear and fractional logistic regressions.

Results

In total, 820 members of the Australian public were recruited. Statistically significant preferences were identified across all eight DCE attributes. We estimated that society on average would be willing to pay AU$5650 more (95% confidence interval [CI]: AU$5500 to $5800) (US$3955 [95% CI: US$3850 to $4060]) for genomic sequencing relative to standard care. Preference heterogeneity was identified for some personal characteristics.

Conclusion

On average, society highly values all diagnostic, process, clinical, and nonclinical components of personal utility. To ensure fair prioritization of genomics, decision makers need to consider the wide range of risks and benefits associated with genomic information.



中文翻译:

基因组测序在复杂儿科神经系统疾病中的价值:离散选择实验。

目的

评估基因组测序对疑似遗传起源的复杂儿科神经系统疾病的价值。

方法

进行离散选择实验 (DCE) 以引发社会偏好和价值观。使用了贝叶斯 D 效率和显式部分轮廓设计。该设计包括 72 个选择任务,分为六个块,具有八个属性(每个选择任务三个重叠)和三个备选方案。使用面板误差分量混合 logit 模型和潜在类别模型分析选择数据。使用线性和分数逻辑回归探索了根据个人社会经济、人口统计和态度特征的偏好异质性。

结果

总共招募了 820 名澳大利亚公众。在所有八个 DCE 属性中确定了具有统计意义的偏好。我们估计,相对于标准护理,社会平均愿意为基因组测序多支付 5650 澳元(95% 置信区间 [CI]:5500 至 5800 澳元)(3955 美元 [95% CI:3850 至 4060 美元])。针对一些个人特征确定了偏好异质性。

结论

平均而言,社会高度重视个人效用的所有诊断、过程、临床和非临床组成部分。为了确保公平地优先考虑基因组学,决策者需要考虑与基因组信息相关的广泛风险和收益。

更新日期:2020-08-25
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