O-038 Early fragile X screening for fertility preservation: a cost-effective strategy to enhance reproductive outcomes

Abstract

Study question Is early screening (age 18) for Fragile X mutations more cost-effective than later screening (age 30) when considering fertility preservation outcomes? Summary answer Early screening at age 18 proves cost-effective at 9,330 Euro per quality-adjusted life year, primarily due to better fertility preservation success compared to delayed screening. What is known already Fragile X premutation carriers may experience reduced fertility, facing an increased risk of primary ovarian insufficiency (up to 15%). Although the ideal timing for screening is uncertain, early detection could facilitate proactive fertility preservation. While techniques for fertility preservation exist, the cost-effectiveness of early screening and intervention has not yet been established. Study design, size, duration A Markov decision model was developed to evaluate the cost-effectiveness of early screening (age 18) versus later screening (age 30) for Fragile X mutations. The model simulates a cohort over a 50-year period using annual cycles and applies a 3% discount rate to costs and health outcomes. Key inputs include the prevalence of Fragile X premutation carriers, fertility preservation costs, probabilities of achieving biological children, and quality-of-life utilities associated with having versus not having children Participants/materials, setting, methods The model incorporated key parameters including Fragile X premutation carriers' prevalence (1 in 110), probability of having biological children with late screening (84%) versus early screening (100%), fertility preservation costs (10,800 Euro), and utilities for having (1.0) versus not having (0.7) biological children. One-way sensitivity analyses were performed on key parameters. Fertility preservation costs are based on Israeli pricing, converted into euros Main results and the role of chance Early screening at age 18 was associated with an incremental cost of 98 Euro and an incremental effectiveness of 0.01053 per quality-adjusted life year (QALY) compared to no screening, resulting in an incremental cost-effectiveness ratio (ICER) of 9,330 Euro per QALY gained. This ratio means that for each additional year of healthy life gained, about 9,330 Euro is spent. In simpler terms, the ICER of 9,330 Euro per QALY shows how much extra cost is required to secure one extra year of good-quality life through early screening. Since interventions are generally considered cost-effective if the cost per additional QALY is below a certain threshold (often around 20,000 Euro or more), an ICER of 9,330 Euro per QALY indicates that early screening is a cost-effective strategy. Sensitivity analyses demonstrated that the model’s results were most influenced by the utility value assigned to not having biological children, the probability of having children with late screening, and the time horizon. Early screening remained cost-effective across a wide range of parameter values, and wide range of fertility preservation cycles costs (5,400-16,200 Euro) suggesting the robustness of the findings Limitations, reasons for caution Model assumptions rely on current cost estimates and utility values which may vary across different healthcare systems and populations Wider implications of the findings These results support implementing early Fragile X screening programs to optimize both reproductive and economic outcomes, potentially changing current screening paradigms. Trial registration number No