Genomics screening views and practices in South East Asian, Indian and Chinese populations: a scoping review.
9 affiliations
- 1SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.
- 2Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
- 3SingHealth Duke-NUS Paediatric Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore.
- 4Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore.
- 5Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
- 6Victorian Clinical Genetics Services, Melbourne, Australia.
- 7Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.
- 8Department of Paediatrics, The University of Melbourne, Melbourne, Australia. [email protected].
- 9Murdoch Children's Research Institute, Melbourne, Victoria, Australia. [email protected].
Abstract
Background
Population genomics screening can stratify individual health and reproductive risks for carriers of genetic conditions. As global implementation expands, insights from diverse settings will help shape equitable and contextually appropriate practice. This scoping review maps views and genomics screening practices for populations in South East Asia, a multicultural yet underrepresented region. Chinese and Indian populations were also included given their cultural and demographic relevance to communities in this region.Methods
A systematic search was conducted in Ovid, Embase and Web of Science for studies published until December 2025. Eligible studies reported views and uptake of population screening amongst participants and healthcare professionals; studies reporting screening for clinical indications were excluded. From 1,971 records retrieved, 31 studies met inclusion criteria. Study characteristics such as knowledge, attitudes, screening uptake barriers and facilitators, reproductive intentions and views of healthcare professionals were tabulated.Results
Studies were published between 1998 and 2025 from six countries, predominantly from China (n = 18), and largely reported carrier screening initiatives (n = 29). Fifteen studies explored views towards screening, 12 reported implementation outcomes and four addressed both. Screening engagement was limited by knowledge gaps, religious and cultural influences, and cost; however, attitudes were favourable following education and health system integration. When screening was implemented, uptake and consideration of reproductive options was high.Conclusions
Effective implementation in South East Asia requires targeted educational interventions for both communities and healthcare professionals, affordable delivery models and clinician-supported integration into healthcare services to provide equitable and culturally sensitive delivery.
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BibTeX
@article{bylstra2026genomics,
title = {{Genomics screening views and practices in South East Asian, Indian and Chinese populations: a scoping review.}},
author = {Yasmin Bylstra and Myrabeth Yeo Juann and Junyu Zhang and Melody Menezes and Jan Hodgson and Saumya S Jamuar and David J Amor},
journal = {BMC medicine},
year = {2026},
month = aug,
doi = {10.1186/s12916-026-05100-7},
url = {https://europepmc.org/article/MED/42972399},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Genomics screening views and practices in South East Asian, Indian and Chinese populations: a scoping review.
AU - Yasmin Bylstra
AU - Myrabeth Yeo Juann
AU - Junyu Zhang
AU - Melody Menezes
AU - Jan Hodgson
AU - Saumya S Jamuar
AU - David J Amor
PY - 2026
DA - 2026/08/03
JO - BMC medicine
DO - 10.1186/s12916-026-05100-7
UR - https://europepmc.org/article/MED/42972399
AB - Background Population genomics screening can stratify individual health and reproductive risks for carriers of genetic conditions. As global implementation expands, insights from diverse settings will help shape equitable and contextually appropriate practice. This scoping review maps views and genomics screening practices for populations in South East Asia, a multicultural yet underrepresented region. Chinese and Indian populations were also included given their cultural and demographic relevance to communities in this region.Methods A systematic search was conducted in Ovid, Embase and Web of Science for studies published until December 2025. Eligible studies reported views and uptake of population screening amongst participants and healthcare professionals; studies reporting screening for clinical indications were excluded. From 1,971 records retrieved, 31 studies met inclusion criteria. Study characteristics such as knowledge, attitudes, screening uptake barriers and facilitators, reproductive intentions and views of healthcare professionals were tabulated.Results Studies were published between 1998 and 2025 from six countries, predominantly from China (n = 18), and largely reported carrier screening initiatives (n = 29). Fifteen studies explored views towards screening, 12 reported implementation outcomes and four addressed both. Screening engagement was limited by knowledge gaps, religious and cultural influences, and cost; however, attitudes were favourable following education and health system integration. When screening was implemented, uptake and consideration of reproductive options was high.Conclusions Effective implementation in South East Asia requires targeted educational interventions for both communities and healthcare professionals, affordable delivery models and clinician-supported integration into healthcare services to provide equitable and culturally sensitive delivery.
SN - 1741-7015
ER -