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

Lei Zhang, Yining Bao, Moeen Riaz, Jane Tiller, Danny Liew, Xun Zhuang, David J. Amor, Aamira Huq, Lara Petelin, Mark Nelson, Paul A. James, Ingrid Winship, John J. McNeil, Paul Lacaze

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23 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1958-1968
Number of pages11
JournalGenetics in Medicine
Issue number9
Publication statusPublished - Sep 2019


  • cancer
  • cost-effectiveness analysis
  • population genomic screening
  • preconception carrier screening
  • prevention

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