ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes.
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. Cited by 37 papers, 4 of them syntheses that pooled it.
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Who cites it
37 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis.Journal of autism and developmental disorders · 2026Pooled it
- Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.Health technology assessment (Winchester, England) · 2025Pooled it
- Measuring the health benefits of genome and exome sequencing: a systematic review of economic evaluations.Frontiers in public health · 2025Pooled it
- A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.Genome medicine · 2025Trial
- Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System.Molecular genetics & genomic medicine · 2026Article
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2025Review
- Design, implementation and evaluation of a model of care for patients with germline predisposition to haematological malignancy and bone marrow failure syndromes.Internal medicine journal · 2025Article
- Long-term follow-up of children who received rapid genomic sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data.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
- Pediatric Nephrolithiasis: A Changing Landscape Through Time and Space.Medicina (Kaunas, Lithuania) · 2024Review
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.Orphanet journal of rare diseases · 2024Article
- Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.JAMA network open · 2024Article
- CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation.Human mutation · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia.European journal of human genetics : EJHG · 2023Article
- ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.Genome medicine · 2023Article
- Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.Molecular aspects of medicine · 2023Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo undertake the first end-to-end cost-effectiveness analysis of exome sequencing (ES) in rare disease diagnosis.
methodsA cohort of 80 infants who underwent ES and usual diagnostic care in parallel were used to model incremental cost and health outcomes (quality adjusted life-years, QALYs) attributable to ES diagnosis over a 20-year horizon. Three models were developed: (1) outcomes in patients only, (2) outcomes in patients and first-degree relatives as a result of cascade testing, and (3) outcomes in patients and first-degree relatives including parental reproductive outcomes.
resultsWhen the directly observed cost and health outcomes of the cohort participants were projected, the use of ES resulted in a gain of 7.39 QALYs and an incremental cost-effectiveness ratio (ICER) of AU$31,144.35 (i.e., cost per additional QALY gained). When cascade testing in first-degree relatives was added, cost-effectiveness increased, to a gain of 11.62 QALYs and an ICER of AU$20,839.57. When parental reproductive outcomes were added, cost-effectiveness increased again, with 36.00 QALYs gained and an ICER of AU$14,235.28.
conclusionUse of ES in suspected monogenic disorders becomes increasingly cost-effective as the benefits of ES data reanalysis, cascade testing in first-degree relatives, and parental reproductive outcomes are incorporated into modeling.
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