Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia

Deborah Schofield, Evelyn Lee*, Jayamala Parmar, Simon Kelly, Matthew Hobbs, Nigel Laing, Jan Mumford, Rupendra Shrestha

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    5 Citations (Scopus)
    32 Downloads (Pure)


    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.

    Original languageEnglish
    Article number100813
    Pages (from-to)1-14
    Number of pages14
    JournalGenetics in Medicine
    Issue number5
    Early online date12 Feb 2023
    Publication statusPublished - May 2023

    Bibliographical note

    © 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


    • Averted
    • Carrier screening
    • Cost effectiveness analysis
    • Microsimulation
    • Quality-adjusted life-years


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