ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled it.
What it found
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The trial behind it
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Who cites it
22 citing papers in PubMed, 3 syntheses or guidelines pooled 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
- Public Preferences for Genetic and Genomic Risk-Informed Chronic Disease Screening and Early Detection: A Systematic Review of Discrete Choice Experiments.Applied health economics and health policy · 2025Pooled it
- A Systematic Review of Discrete Choice Experiments and Conjoint Analysis on Genetic Testing.The patient · 2022Pooled 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
- Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.International journal of molecular sciences · 2026Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Self-assessed knowledge of genomic medicine among non-genetics physicians - results from a nationwide Swedish survey.Journal of community genetics · 2025Article
- 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
- The Health Economics of Genomic Technologies: A Growing Evidence Base on Value.Applied health economics and health policy · 2025Article
- 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
- Eliciting parental preferences and values for the return of additional findings from genomic sequencing.NPJ genomic medicine · 2024Article
- Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- 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
- Evaluating genetic and genomic tests for heritable conditions in Australia: lessons learnt from health technology assessments.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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo estimate the value of genomic sequencing for complex pediatric neurological disorders of suspected genetic origin.
methodsA discrete choice experiment (DCE) was undertaken to elicit societal preferences and values. A Bayesian D-efficient and explicit partial profile design was used. The design included 72 choice tasks, split across six blocks, with eight attributes (three overlapping per choice task) and three alternatives. Choice data were analyzed using a panel error component mixed logit model and a latent class model. Preference heterogeneity according to personal socioeconomic, demographic, and attitudinal characteristics was explored using linear and fractional logistic regressions.
resultsIn total, 820 members of the Australian public were recruited. Statistically significant preferences were identified across all eight DCE attributes. We estimated that society on average would be willing to pay AU$5650 more (95% confidence interval [CI]: AU$5500 to $5800) (US$3955 [95% CI: US$3850 to $4060]) for genomic sequencing relative to standard care. Preference heterogeneity was identified for some personal characteristics.
conclusionOn average, society highly values all diagnostic, process, clinical, and nonclinical components of personal utility. To ensure fair prioritization of genomics, decision makers need to consider the wide range of risks and benefits associated with genomic information.
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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.