Journal article

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

Ilias Goranitis, Stephanie Best, John Christodoulou, Zornitza Stark, Tiffany Boughtwood

Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2020


PURPOSE: To estimate the personal utility and uptake of genomic sequencing (GS) across pediatric and adult-onset genetic conditions. METHODS: Three discrete choice experiment (DCE) surveys were designed and administered to separate representative samples of the Australian public. Bayesian D-efficient explicit partial profile designs were used. Choice data were analyzed using a panel error component random parameter logit model. RESULTS: Overall, 1913 participants completed the pediatric (n = 533), symptomatic adult (n = 700) and at-risk adult (n = 680) surveys. The willingness-to-pay for GS information in pediatric conditions was estimated at $5470-$15,250 (US$3830-$10,675) d..

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Awarded by National Health and Medical Research Council (NHMRC) grant

Awarded by NHMRC

Funding Acknowledgements

We thank the representatives from Genetic Support Network Victoria, Leukodystrophy Australia, Syndromes Without Names (SWAN) Australia, and Usher Kids Australia. We are grateful for their support in developing and piloting the surveys. 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). This research was funded by the NHMRC Targeted Call for Research grant (GNT1113531) "Preparing Australia for Genomic Medicine." 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.