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Abstract
Purpose
To evaluate the cost-effectiveness of population-based expanded reproductive carrier screening (RCS) for a 300 recessive genes panel from health service and societal perspectives.
Methods
A microsimulation model (PreConMod) was developed using 2016 Australian Census data as the base population. Epidemiological, health and indirect cost data were based on literature review. The study assessed the incremental-cost-effectiveness-ratio (ICER) of expanded RCS compared with (i) no population screening (ii) three-condition screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome in a single birth cohort. Averted affected births and health service savings with expanded RCS were projected to year 2061. Both one-way and probability sensitivity analyses were conducted to assess the uncertainty of the parameter inputs.
Results
Expanded RCS was cost-saving compared with no population screening and cost-effective compared to the three-condition screening (ICER of $6,287 per QALY gained) at an uptake rate of 50% for RCS, 59% for IVF and preimplantation genetic testing, 90% for prenatal diagnosis testing and 50% for elective termination of affected pregnancies and a cost of A$595 per couple screened. Our model predicts that expanded RCS would avert one-third of affected births in a single birth cohort and reduce lifetime health service spending by A$632.0 million. Expanded RCS was estimated to be cost saving from the societal perspective.
Conclusion
Expanded RCS is cost-effective from the health service and societal perspectives. Expanded RCS is projected to avert significantly more affected births and result in health service saving beyond those expected from three-condition screening or no population screening.
Keywords
Article info
Publication history
Accepted:
February 7,
2023
Received in revised form:
February 3,
2023
Received:
September 14,
2022
Publication stage
In Press Accepted ManuscriptFootnotes
Conflict of Interest
The authors declare no conflicts of interest.
Identification
Copyright
© 2023 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.
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