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ABSTRACT: 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.
SUBMITTER: Zhang L
PROVIDER: S-EPMC6752319 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Zhang Lei L Bao Yining Y Riaz Moeen M Tiller Jane J Liew Danny D Zhuang Xun X Amor David J DJ Huq Aamira A Petelin Lara L Nelson Mark M James Paul A PA Winship Ingrid I McNeil John J JJ Lacaze Paul P
Genetics in medicine : official journal of the American College of Medical Genetics 20190218 9
<h4>Purpose</h4>To consider the impact and cost-effectiveness of offering preventive population genomic screening to all young adults in a single-payer health-care system.<h4>Methods</h4>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 ...[more]