Implementing reproductive carrier screening to include diverse Asian populations: insights from Singapore
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.
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BibTeX
@article{bylstra2026implementing,
title = {{Implementing reproductive carrier screening to include diverse Asian populations: insights from Singapore}},
author = {Yasmin Bylstra and Myrabeth Yeo Juann and Jing Xian Teo and Jeannette Goh and Christina Choi and Shermaine Chan and Christine Song and Jasmine Chew Yin Goh and Nellie Bin Siew Chai and Jane Andrea Lieviant and Hui Jin Toh and Sock Hoai Chan and Robin Blythe and Melody Menezes and Chengxi Yang and Jan Hodgson and Nicholas Graves and Joel Sng and Wan Wan Lim and Hai Yang Law and David J. Amor and Gareth Baynam and Jerry KY Chan and Yoke Hwee Chan and Patrick Tan and Ivy Ng and Weng Khong Lim and Saumya S. Jamuar},
journal = {BMC Medicine},
year = {2026},
month = oct,
doi = {10.1186/s12916-026-05286-w},
url = {https://link.springer.com/10.1186/s12916-026-05286-w},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Implementing reproductive carrier screening to include diverse Asian populations: insights from Singapore
AU - Yasmin Bylstra
AU - Myrabeth Yeo Juann
AU - Jing Xian Teo
AU - Jeannette Goh
AU - Christina Choi
AU - Shermaine Chan
AU - Christine Song
AU - Jasmine Chew Yin Goh
AU - Nellie Bin Siew Chai
AU - Jane Andrea Lieviant
AU - Hui Jin Toh
AU - Sock Hoai Chan
AU - Robin Blythe
AU - Melody Menezes
AU - Chengxi Yang
AU - Jan Hodgson
AU - Nicholas Graves
AU - Joel Sng
AU - Wan Wan Lim
AU - Hai Yang Law
AU - David J. Amor
AU - Gareth Baynam
AU - Jerry KY Chan
AU - Yoke Hwee Chan
AU - Patrick Tan
AU - Ivy Ng
AU - Weng Khong Lim
AU - Saumya S. Jamuar
PY - 2026
DA - 2026/10/07
JO - BMC Medicine
DO - 10.1186/s12916-026-05286-w
UR - https://link.springer.com/10.1186/s12916-026-05286-w
AB - 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.
SN - 1741-7015
ER -