ArticleEuropean journal of human genetics : EJHG2021
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
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. An erratum has been issued. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 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
- Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics.Frontiers in public health · 2025Pooled it
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.Genetics in medicine open · 2026Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Types and Diagnosis of Childhood Intellectual Disabilities: Advancing Accuracy for Better Outcomes.Children (Basel, Switzerland) · 2025Review
- Economic burden of Sanfilippo syndrome in the United States.Archives of public health = Archives belges de sante publique · 2025Article
- Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation.Applied health economics and health policy · 2025Article
- Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis.The European journal of health economics : HEPAC : health economics in prevention and care · 2025Article
- Insights from multidisciplinary rare disease visits: Findings from wrap-up documents and participant surveys in a national diagnostic study.Rare (Amsterdam, Netherlands) · 2025Article
- Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.PloS one · 2025Article
- Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.JAMA network open · 2024Article
- Paving the path for implementation of clinical genomic sequencing globally: Are we ready?Health affairs scholar · 2024Article
- Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.European journal of human genetics : EJHG · 2023Article
- Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.Children (Basel, Switzerland) · 2023Article
- Participation in a national diagnostic research study: assessing the patient experience.Orphanet journal of rare diseases · 2023Article
- Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research.European journal of human genetics : EJHG · 2023Article
- Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.American journal of medical genetics. Part A · 2023Review
- Ethical principles, challenges and opportunities when conducting genetic counselling for schizophrenia.Frontiers in psychiatry · 2023Article
- Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.Journal of community genetics · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genomic testing is becoming routine for diagnosing rare childhood genetic disease. Evidence underlying sustainable implementation is limited, focusing on short-term endpoints such as diagnostic yield, unable to fully characterize patient and family valued outcomes. Although genomic testing is becoming widely available, evidentiary and outcomes uncertainty persist as key challenges for implementation. We examine whether the current evidence base reflects public tolerance for uncertainty for genomics to diagnose rare childhood genetic disease. We conducted focus groups with general population parents in Vancouver, Canada, and Oxford, United Kingdom, to discuss expectations and concerns related to genomic testing to diagnose rare childhood genetic disease. Applying a purposive sampling technique, recruitment continued until thematic saturation was reached. Transcripts were analysed using thematic analysis. Thirty-three parents participated across four focus groups. Participants valued causal diagnoses alongside management strategies to improve patient health and wellbeing. Further, participants valued expanding the evidence base to reduce evidentiary uncertainty while ensuring security of information. Willingness to pay out of pocket for testing reflected perceived familial health benefit. Diagnostic yield fails to fully capture valued outcomes, and efforts to resolve uncertainty better reflect public priorities. Evaluations of genomic testing that fully integrate valued endpoints are necessary to ensure consistency with best practices and public willingness to accept the uncertain familial benefit.
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