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Population genomic screening of all young adults in a health-care system: A cost-effectiveness analysis


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Zhang, L, Bao, Y, Riaz, M, Tiller, J, Liew, D, Zhuang, X, Amor, DJ, Huq, A, Petelin, L, Nelson, M ORCID: 0000-0001-9941-7161, James, PA, Winship, I, McNeil, JJ and Lacaze, P 2019 , 'Population genomic screening of all young adults in a health-care system: A cost-effectiveness analysis' , Genetics in Medicine , doi: 10.1038/s41436-019-0457-6.

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Purpose:To consider the impact and cost-effectiveness of offering preventive population genomic screening to all young adults in a single-payer health-care system.Methods:We 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.Results:Population 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).Conclusion:Preventive genomic screening in early adulthood would be highly cost-effective in a single-payer health-care system, but ethical issues must be considered.

Item Type: Article
Authors/Creators:Zhang, L and Bao, Y and Riaz, M and Tiller, J and Liew, D and Zhuang, X and Amor, DJ and Huq, A and Petelin, L and Nelson, M and James, PA and Winship, I and McNeil, JJ and Lacaze, P
Keywords: cancer, cost-effectiveness analysis, population genomic screening, preconception carrier screening, prevention
Journal or Publication Title: Genetics in Medicine
Publisher: Lippincott Williams & Wilkins
ISSN: 1098-3600
DOI / ID Number: 10.1038/s41436-019-0457-6
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© The Author(s) 2019 This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, and provide a link to the Creative Commons license. You do not have permission under this license to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit

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