ArticleEuropean journal of human genetics : EJHG2021
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 of them syntheses that pooled it.
What it found
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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.
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Who cites it
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- The Evolving Landscape of Discrete Choice Experiments in Health Economics: A Systematic Review.PharmacoEconomics · 2025Pooled it
- 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
- Preferences for Genetic Testing to Predict the Risk of Developing Hereditary Cancer: A Systematic Review of Discrete Choice Experiments.Medical decision making : an international journal of the Society for Medical Decision Making · 2024Pooled it
- Public Preferences and Willingness to Pay for a Multidisciplinary Colorectal and Pelvic Reconstruction Service.The patient · 2026Article
- Societal Preferences, Values and Priorities for Genomic Testing for Atrial Fibrillation: Evidence from Two Discrete Choice Experiments.The patient · 2026Article
- Is next generation sequencing for the diagnosis of rare diseases worth its cost? A user-based approach to valuation.The European journal of health economics : HEPAC : health economics in prevention and care · 2026Article
- Cost-effectiveness of paediatric rapid genomic testing: a commentary.International journal for advancing practice · 2026Article
- 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
- Preferences for public health insurance coverage of new anticancer drugs: a discrete choice experiment among non-small cell lung cancer patients in China.BMC public health · 2025Article
- The value of genomic testing in severe childhood speech disorders.European journal of human genetics : EJHG · 2024Article
- Eliciting parental preferences and values for the return of additional findings from genomic sequencing.NPJ genomic medicine · 2024Article
- QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia.Health and quality of life outcomes · 2023Article
- 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
- Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.Frontiers in endocrinology · 2023Article
- Resource allocation in genetic and genomic medicine.Journal of community genetics · 2022Article
- The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions.PharmacoEconomics · 2022Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Healthcare systems are increasingly considering widespread implementation of rapid genomic testing of critically ill children, but evidence on the value of the benefits generated is lacking. This information is key for an optimal implementation into healthcare systems. A discrete choice experiment survey was designed to elicit preferences and values for rapid genomic testing in critically ill children. The survey was administered to members of the Australian public and families with lived experience of rapid genomic testing. A Bayesian D-efficient explicit partial profiles design was used, and data were analysed using a panel error component mixed logit model. Preference heterogeneity was explored using a latent class model and fractional logistic regressions. The public (n = 522) and families with lived experiences (n = 25) demonstrated strong preferences for higher diagnostic yield and clinical utility, faster result turnaround times, and lower cost. Society on average would be willing to pay an additional AU$9510 (US$6657) for rapid (2 weeks results turnaround time) and AU$11,000 (US$7700) for ultra-rapid genomic testing (2 days turnaround time) relative to standard diagnostic care. Corresponding estimates among those with lived experiences were AU$10,225 (US$7158) and AU$11,500 (US$8050), respectively. Our work provides further evidence that rapid genomic testing for critically ill children with rare conditions generates substantial utility. The findings can be used to inform cost-benefit analyses as part of broader healthcare system implementation.
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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.