The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions

Overview

Journal Pharmacoeconomics

Specialty Pharmacology

Date 2021 Oct 21

PMID 34671943

Citations 3

Authors

Yan Meng

Philip M Clarke

Ilias Goranitis

Affiliations

Soon will be listed here.

Abstract

Objectives: The aim of this study was to elicit the willingness-to-pay (WTP) for genomic testing, using contingent valuation, among people with lived experience of genetic conditions in Australia.

Methods: Parents of children with suspected mitochondrial disorders, epileptic encephalopathy, leukodystrophy, or malformations of cortical development completed a dynamic triple-bounded dichotomous choice (DC) contingent valuation. Adult patients or parents of children with suspected genetic kidney disease or complex neurological and neurodegenerative conditions completed a payment card (PC) contingent valuation. DC data were analyzed using a multilevel interval regression and a multilevel probit model. PC data were analyzed using a Heckman selection model.

Results: In total, 360 individuals participated in the contingent valuation (CV), with 141 (39%) and 219 (61%) completing the DC and PC questions, respectively. The mean WTP for genomic testing was estimated at AU$2830 (95% confidence interval [CI] 2236-3424) based on the DC data and AU$1914 (95% CI 1532-2296) based on the PC data. The mean WTP across the six cohorts ranged from AU$1879 (genetic kidney disease) to AU$4554 (leukodystrophy).

Conclusions: Genomic testing is highly valued by people experiencing rare genetic conditions. Our findings can inform cost-benefit analyses and the prioritization of genomics into mainstream clinical care. While our WTP estimates for adult-onset genetic conditions aligned with estimates derived from discrete choice experiments (DCEs), for childhood-onset conditions our estimates were significantly lower. Research is urgently required to directly compare, and critically evaluate, the performance of CV and DCE methods.

Citing Articles

Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation.

Abbott M, Ryan M, Hernandez R, Heidenreich S, Miedzybrodzka Z Appl Health Econ Health Policy. 2025; .

PMID: 40082384 DOI: 10.1007/s40258-025-00948-x.

The value of genomic testing in severe childhood speech disorders.

Meng Y, Best S, Amor D, Braden R, Morgan A, Goranitis I Eur J Hum Genet. 2024; 32(4):440-447.

PMID: 38308083 PMC: 10999408. DOI: 10.1038/s41431-024-01534-w.

Determining the utility of diagnostic genomics: a conceptual framework.

Mallett A, Stark Z, Fehlberg Z, Best S, Goranitis I Hum Genomics. 2023; 17(1):75.

PMID: 37587497 PMC: 10433656. DOI: 10.1186/s40246-023-00524-1.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff C, Goranitis I Am J Hum Genet. 2023; 110(3):419-426.

PMID: 36868206 PMC: 10027474. DOI: 10.1016/j.ajhg.2023.01.018.

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