PRO2 Economic Evaluation of Reproductive Carrier Screening for Recessive Genetic Conditions: A Systematic Review

Abstract

Recessive genetic diseases are a big burden for the whole of society. They are collectively affecting millions of people worldwide. With the rapid development of genetic technology recently, reproductive carrier screening (RCS) has been recommended globally to reduce the incidence of recessive diseases. It has also been demonstrated to be cost-effective in some studies. However, it is generally provided as a private fee-for-service test at present. The aim of this review is to appraise the economic evaluations of carrier screening in recessive genetic conditions. A systematic search was performed on economic evaluations published between 1990 and 2019 for RCS among preconception and pregnant couples. The checking process was conducted by two authors independently and any discrepancy was resolved by consensus. Data extraction and data synthesis were developed from the included studies. The reporting quality of these economic evaluations was assessed against the Consolidated Health Economic Evaluation Reporting Standards (CHEERS) checklist. Of the 4308 publications identified initially, 24 studies were selected, which adopted various types of methodologies to conduct economic evaluations, including cost-benefit, cost-effectiveness and cost-utility analysis. Three of the 24 studies included quality-adjusted life years (QALYs) as the outcome measure. The results of our review indicate a heterogeneity in the applied methodologies, data collection of inputs and outcome measurement among the selected papers, as well as the wide divergence in their results and conclusions. This systematic review demonstrates that there is considerable uncertainty to the cost effectiveness of RCS due to a paucity of clinical data and a heavy reliance on clinical assumptions, highlighting the need for more robust economic evaluation studies. Given the issues with quality and the complex clinical setting, other factors such as psychology, ethics, culture and religion, should also be considered when implementing and funding the interventions in the carrier screening setting.