Genomics screening views and practices in South East Asian, Indian and Chinese populations: a scoping review

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. 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. 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. 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.

Authors

Institutions

Publication Details

Journal
BMC Medicine
Published
2026-08-03
DOI
https://doi.org/10.1186/s12916-026-05100-7
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Genomics screening views and practices in South East Asian, Indian and Chinese populations: a scoping review

Jan Hodgson, Saumya S. Jamuar, J Zhang, David J. Amor et al.
BMC Medicine
BRCA gene mutations in cancer
article

Genomics screening views and practices in South East Asian, Indian and Chinese populations: a scoping review

Jan Hodgson, Saumya S. Jamuar, J Zhang, David J. Amor, Yasmin Bylstra, Myrabeth Yeo Juann, Melody Menezes
article en

Abstract

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. 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. 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. 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.

BMC Medicine
SingHealth (SG), The University of Melbourne (AU), SingHealth Duke-NUS Academic Medical Centre (SG), Victorian Clinical Genetics Services (AU), KK Women's and Children's Hospital (SG), Duke-NUS Medical School (SG), Murdoch Children's Research Institute (AU), Shanghai First Maternity and Infant Hospital (CN)
Openalex Percentile: Top 9%
BRCA gene mutations in cancer
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.