ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.
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 54 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
54 citing papers in PubMed, 3 syntheses or guidelines pooled it, 101 citations in OpenAlex.
- Economic evaluation of germline genetic testing for breast cancer in low- and middle-income countries: a systematic review.BMC cancer · 2024Pooled it
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled 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
- The clinical utility of carrier screening.NPJ genomic medicine · 2026Article
- Assessing Willingness to Pay for Genetic Testing Among Adults: A Cross-Sectional Study Using Data from the Omnibus Survey 2022.Journal of personalized medicine · 2026Article
- Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot.Nature health · 2026Article
- GCN2 in Cancer: Molecular Mechanisms to Therapeutic Potential.Current cancer drug targets · 2026Review
- Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.Journal of medical genetics · 2025Article
- Identification of Patients at Elevated Cancer Risk through a Community-Based Genetic Testing Program.Annals of surgical oncology · 2025Article
- Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis.European journal of human genetics : EJHG · 2025Article
- Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancer.European journal of human genetics : EJHG · 2025Article
- Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks.International journal of medical sciences · 2025Review
- Economic Evaluation of Population-Based BRCA1 and BRCA2 Testing in Canada.JAMA network open · 2024Article
- Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates.NPJ genomic medicine · 2024Article
- Screening and prevention of ovarian cancer.The Medical journal of Australia · 2024Review
- Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.American journal of human genetics · 2024Article
- Combined population genomic screening for three high-risk conditions in Australia: a modelling study.EClinicalMedicine · 2023Article
- Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.American journal of human genetics · 2023Article
- Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.Annals of internal medicine · 2023Article
- mRNA-based COVID-19 booster vaccination is highly effective and cost-effective in Australia.Vaccine · 2023Article
Corrections and comments
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- Erratum issued
Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo consider the impact and cost-effectiveness of offering preventive population genomic screening to all young adults in a single-payer health-care system.
methodsWe modeled screening of 2,688,192 individuals, all adults aged 18-25 years in Australia, for pathogenic variants in BRCA1/BRCA2/MLH1/MSH2 genes, and carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), at 71% testing uptake using per-test costs ranging from AUD$200 to $1200 (~USD$140 to $850). Investment costs included genetic counseling, surveillance, and interventions (reimbursed only) for at-risk individuals/couples. Cost-effectiveness was defined below AUD$50,000/DALY (disability-adjusted life year) prevented, using an incremental cost-effectiveness ratio (ICER), compared with current targeted testing. Outcomes were cancer incidence/mortality, disease cases, and treatment costs reduced.
resultsPopulation screening would reduce variant-attributable cancers by 28.8%, cancer deaths by 31.2%, and CF/SMA/FXS cases by 24.8%, compared with targeted testing. Assuming AUD$400 per test, investment required would be between 4 and 5 times higher than current expenditure. However, screening would lead to substantial savings in medical costs and DALYs prevented, at a highly cost-effective ICER of AUD$4038/DALY. At AUD$200 per test, screening would approach cost-saving for the health system (ICER = AUD$22/DALY).
conclusionPreventive genomic screening in early adulthood would be highly cost-effective in a single-payer health-care system, but ethical issues must be considered.
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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.