Abstract
Background and objective
Carrier screening for inherited genetic disorders can reduce the burden of conditions that lead to morbidity and mortality. National carrier screening programme uptake may depend on population preferences for screening. In this study, we aimed to determine how expanded carrier screening in Singapore should be provided based on population stated preferences.Methods
We elicited stated preferences for the design of a national carrier screening programme with seven attributes from 500 Singaporeans aged 18-54 years. A discrete choice experiment was applied using three blocks of ten choice tasks with three alternatives per task, including the choice to opt out of screening. The mixed multinomial logit model was used to analyse preferences. We assessed willingness-to-pay for screening and predicted programme uptake for a range of copayments, and estimated national budget impacts for different programme implementations.Results
Respondents showed preferences for lower costs, a wider range of diseases included in the panel and shorter wait times. Predicted uptake ranged from 85% [95% confidence interval 83-87] to 90% [88-92] for hypothetical basic and utility-maximising screening programmes, respectively, with no copayments. This declined to 61% [56-66] and 69% [65-73], respectively, for copayments of $1200 per tested couple. Budget impact depended upon policy package, population eligibility, copayments and couples' decision-making processes, but was unlikely to exceed $13.1 m [$11.0-$15.7] per year for a utility-maximising programme unless expanded beyond pre-conception married couples.Conclusions
There were strong but heterogeneous preferences for expanded carrier screening in the Singaporean general population, with particularly strong preferences for more comprehensive panels of disorders. Accordingly, providing a selection of screening packages may increase programme uptake and support family planning while improving affordability.