Article|Articles in Press, 100813

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

Open AccessPublished:February 12, 2023DOI:
      This paper is only available as a PDF. To read, Please Download here.



      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.


      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.


      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.


      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.