The value of genomic testing in severe childhood speech disorders

Meng, Y; Best, S; Amor, DJ; Braden, R; Morgan, AT; Goranitis, I

Author(s): Meng, Y; Best, S; Amor, DJ; Braden, R; Morgan, AT; Goranitis, I;
Details: Publication Year 2024-04,Volume 32,Issue #4,Page 440-447
Journal Title: European Journal of Human Genetics
Publication Type: Research article
Abstract: With increasing gene discoveries for severe speech disorders, genomic testing can alter the diagnostic and clinical paradigms, enabling better life outcomes for children and their families. However, evidence on the value of the outcomes generated is lacking, impeding optimal translation into health care. This study aims to estimate the value and uptake of genomic testing for severe childhood speech disorders. A discrete choice experiment was undertaken to elicit preferences for genomic testing from the perspective of the Australian public (n = 951) and parents of children experiencing severe speech disorder (n = 56). Choice attributes associated with genomic testing were identified through focus groups. A Bayesian D-efficient design was used to develop choice scenarios and choice data were analyzed using a panel error component mixed logit model and a latent class model. Statistically significant preferences were identified across all seven attributes. The mean monetary value of the benefits of genomic testing relative to standard diagnostic care in Australia was estimated at AU$7489 (US$5021) and AU$4452 (US$2985) from the perspectives of the Australian public and families with lived experience of severe speech disorders, with a corresponding test uptake of 94.2% and 99.6%. To ensure fair prioritization of genomics, decision-makers need to consider the wide range of risks and benefits associated with genomic information.
Publisher: Springer Nature
Keywords: Child; Humans; *Choice Behavior; Australia; Bayes Theorem; *Genetic Testing; Speech Disorders/diagnosis/genetics; Surveys and Questionnaires; Patient Preference
Department(s): Health Services Research
Publisher's Version: https://doi.org/10.1038/s41431-024-01534-w
Open Access at Publisher's Site: https://doi.org/10.1038/s41431-024-01534-w
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2024-07-17 03:09:41

Last Modified: 2024-07-17 03:11:16