ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
The value of diagnostic testing for parents of children with rare genetic diseases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 38 papers, 6 of them syntheses that pooled it.
What it found
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Who cites it
38 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- The Evolving Landscape of Discrete Choice Experiments in Health Economics: A Systematic Review.PharmacoEconomics · 2025Pooled it
- Preferences for genetic testing among populations underrepresented in genomic research: a systematic review.European journal of human genetics : EJHG · 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
- Current Practices for Accounting for Preference Heterogeneity in Health-Related Discrete Choice Experiments: A Systematic Review.PharmacoEconomics · 2022Pooled it
- A Systematic Review of Discrete Choice Experiments and Conjoint Analysis on Genetic Testing.The patient · 2022Pooled it
- Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Women's Treatment Preferences for Moderate to Severe Vasomotor Symptoms Associated with Menopause: Insights from the WARMER Study.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
- Parent/caregiver needs during pediatric genome-wide sequencing: A scoping literature review.Journal of genetic counseling · 2026Article
- Painful subjects: the sociogenic processing of pain in individuals with Ehlers-Danlos syndromes.SSM. Mental health · 2026Article
- Public perceptions of genetic sequencing in China: barriers and drivers of adoption.European journal of human genetics : EJHG · 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
- Article
- Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?Applied health economics and health policy · 2025Article
- Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.NPJ genomic medicine · 2024Article
- Paving the path for implementation of clinical genomic sequencing globally: Are we ready?Health affairs scholar · 2024Article
- The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.Orphanet journal of rare diseases · 2024Article
- The value of genomic testing in severe childhood speech disorders.European journal of human genetics : EJHG · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors.
Funding
Abstract
purposeExome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of the diagnostic odyssey. Our study examines how parents and families value ES.
methodsWe developed a discrete choice experiment (DCE) survey that was administered to parents of children with rare diseases. The DCE included 14 choice tasks with 6 attributes and 3 alternatives. A valuation-space model was used to estimate willingness to pay, willingness to wait for test results, and minimum acceptable chance of a diagnosis for changes in each attribute.
resultsThere were n = 319 respondents of whom 89% reported their child had genetic testing, and 66% reported their child had a diagnosis. Twenty-six percent reported that their child had been offered ES. Parents were willing to pay CAD$6590 (US$4943), wait 5.2 years to obtain diagnostic test results, and accept a reduction of 3.1% in the chance of a diagnosis for ES compared with operative procedures.
conclusionTimely access to ES could reduce the diagnostic odyssey and associated costs. Before ES is incorporated routinely into care for patients with rare diseases in Canada and more broadly, there must be a clear understanding of its value to patients and families.
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