The value of functional genomics: a contingent valuation

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BACKGROUND: Functional genomics approaches, such as transcriptomics and proteomics, can provide valuable insights into rare diseases when genomic sequencing fails to yield informative findings. This study estimated the monetary value that parents, carers and individuals with undiagnosed rare diseases place on functional genomics testing. RESEARCH DESIGN AND METHODS: A triple-bounded dichotomous choice contingent valuation survey was completed by carers and individuals with suspected rare monogenic disorders recruited as part of the Australian Undiagnosed Disease Network. A multilevel interval regression model was used to analyze response data and estimate the monetary value of functional genomics, in terms of willingness to pay (WTP). RESULTS: There was a total of 57 respondents (48%), primarily carers (95%). The mean WTP for functional genomics testing was estimated to be $2,522 (95% CI: $817-$4,228) [US $1,568 (95% CI: $508-$2,629)]. CONCLUSIONS: Our findings indicate that individuals with undiagnosed rare diseases and their parents or caregivers place high value on functional genomics testing. The estimated WTP is comparable to findings from contingent valuation studies of other genomic interventions and exceeds the expected economic cost of proteomics testing. These insights can inform a preference-based evaluation of the diagnostic outcomes and net benefits achieved through functional genomics, thereby guiding decision-making and clinical implementation.

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