Implementing reproductive carrier screening to include diverse Asian populations: insights from Singapore

Abstract

Abstract Background As part of Singapore’s effort towards precision medicine tailored to Asian diversity, we describe the implementation of a nationwide reproductive carrier screening program. Using a customised 112-gene panel, targeting population-specific recessive genetic diseases, we outline the overall program design, and initial efforts of community and stakeholder engagement to inform culturally appropriate implementation. Methods Participants receive culturally tailored online education regarding our reproductive screening program and are provided results with genetic counselling and reproductive options. Engagement with religious leaders indicated support for the program. Community and stakeholder perspectives were assessed through questionnaires. Results Recruitment is nation-wide, and since initiation of our pilot phase in September 2024, 1,619 couples have registered interest, with 60% uptake of those deemed eligible. Among the 550 couples that have received results to date, six couples (1.0%) were identified to be at increased risk. Community questionnaire responses ( n = 1,002), involving couples who participated in the program as well as the general public, indicated interest was high (59%) across the cohort but awareness, intent to participate and implications for reproductive options differed by sociodemographic factors such as ancestry and religion. Healthcare professional respondents ( n = 113) acknowledged carrier screening will be routine in medical care, but report limited confidence and resources. Conclusions These early program outcomes and community engagement are guiding the implementation of expanding population-based carrier screening in Singapore, contingent on addressing practical challenges through equitable outreach and professional training.