Preferences and willingness-to-pay for expanded carrier screening programmes in the general population: An integrative systematic review and meta-analysis

ABSTRACT Purpose To systematically review population preferences for expanded carrier screening programmes to inform service delivery and health policy. Methods PubMed, CINAHL, and Scopus were searched from 1995 to 2025 on carrier screening for autosomal or X-linked recessive genetic conditions across adult general populations. Included studies elicited preferences on attributes regarding the design or delivery of carrier screening programs. We extracted preferences for each attribute, mapped qualitative findings to these preferences, assessed risk of bias and performed meta-analysis on the willingness-to-pay for screening using Bayesian multilevel modelling. All findings are reported in 2024 USD. Results Thirty one studies, including 16 quantitative, 11 qualitative, and 4 mixed-methods studies were included. Participants expressed preferences for which conditions to include in ECS, joint vs individual screening, the value of information provided before screening, in-person over online counselling, type of healthcare provider, and preconception testing. Willingness-to-pay was right-skewed with 9% of participants not willing to pay any amount, a median of $107 and an interquartile range between $41 and $226. Most studies demonstrated a high risk of bias. Conclusions We report preferences of the general population regarding expanded carrier screening programmes, including suggested amounts for copayment if subsidised by the health system.