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

  • Presenting author: Evelyn Lee (Macquarie University)

  • Authors: Evelyn Lee; Deborah Schofield; Jayamala Parmar and Rupendra Shrestha

  • Session: C02B - Health [3] - Wednesday 11:00-12:30 - Marietta-Blau Hall

  • Slides: PDF


To evaluate the cost-effectiveness of population-based expanded reproductive carrier screening (RCS) for a expanded 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 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 more affected births in a single birth cohort and reduce lifetime health service spending by at least A$385.2 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.