The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment



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


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.


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.


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.

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Australian Genomics Health Alliance is funded by a National Health and Medical Research Council (NHMRC) grant (grant reference number 1113531) and the Australian Government’s Medical Research Future Fund (MRFF). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. This work represents independent research and the views expressed are those of the authors and not necessarily those of the NHMRC or MRFF.

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Correspondence to Ilias Goranitis PhD.

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Goranitis, I., Best, S., Stark, Z. et al. The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment. Genet Med (2020).

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  • genomics
  • preferences
  • personal utility
  • neurodevelopmental disorders
  • children