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


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, Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis, Genetics in Medicine, 21 pp. 1958-1968. ISSN 1098-3600 (2019) [Refereed Article]


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DOI: doi:10.1038/s41436-019-0457-6


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 Details

Item Type:Refereed Article
Keywords:cancer, cost-effectiveness analysis, population genomic screening, preconception carrier screening, prevention
Research Division:Health Sciences
Research Group:Health services and systems
Research Field:Health services and systems not elsewhere classified
Objective Division:Health
Objective Group:Public health (excl. specific population health)
Objective Field:Public health (excl. specific population health) not elsewhere classified
UTAS Author:Nelson, M (Professor Mark Nelson)
ID Code:133901
Year Published:2019
Web of Science® Times Cited:43
Deposited By:Medicine
Deposited On:2019-07-15
Last Modified:2020-08-17
Downloads:34 View Download Statistics

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