ArticlePharmacoEconomics2022
The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions.
Article in PharmacoEconomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.Applied health economics and health policy · 2025Pooled it
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia.American journal of human genetics · 2025Article
- A roadmap for genome projects to foster psychosocial and economic evidence to further policy and practice.Communications medicine · 2025Review
- Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation.Applied health economics and health policy · 2025Article
- The value of genomic testing in severe childhood speech disorders.European journal of human genetics : EJHG · 2024Article
- Determining the utility of diagnostic genomics: a conceptual framework.Human genomics · 2023Review
- Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.American journal of human genetics · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe 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.
methodsParents 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.
resultsIn 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).
conclusionsGenomic 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.