{
  "abstract": "Background\n\nPopulation 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\n\nA 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\n\nStudies 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\n\nEffective 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.",
  "abstract_shown": true,
  "affiliations": [
    "SingHealth Duke-NUS Institute of Precision Medicine, Singapore Health Services, Singapore, Singapore.",
    "Department of Paediatrics, The University of Melbourne, Melbourne, Australia.",
    "SingHealth Duke-NUS Paediatric Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore.",
    "Department of Paediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore.",
    "Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.",
    "Victorian Clinical Genetics Services, Melbourne, Australia.",
    "Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.",
    "Department of Paediatrics, The University of Melbourne, Melbourne, Australia. david.amor@mcri.edu.au.",
    "Murdoch Children's Research Institute, Melbourne, Victoria, Australia. david.amor@mcri.edu.au."
  ],
  "article_type": "scoping review",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Yasmin Bylstra"
    },
    {
      "affs": [
        3
      ],
      "name": "Myrabeth Yeo Juann"
    },
    {
      "affs": [
        4
      ],
      "name": "Junyu Zhang"
    },
    {
      "affs": [
        1,
        5
      ],
      "name": "Melody Menezes"
    },
    {
      "affs": [
        1
      ],
      "name": "Jan Hodgson"
    },
    {
      "affs": [
        0,
        3,
        6
      ],
      "name": "Saumya S Jamuar"
    },
    {
      "affs": [
        7,
        8
      ],
      "name": "David J Amor"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/5sm2nmpmkggq4.bib",
  "cited_by": 0,
  "doi": "10.1186/s12916-026-05100-7",
  "fulltext_url": "https://europepmc.org/articles/PMC13726124",
  "id": "5sm2nmpmkggq4",
  "issns": [
    "1741-7015"
  ],
  "landing_url": "https://europepmc.org/article/MED/42972399",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Research"
    ],
    [
      "openalex",
      "2735|Prenatal Screening and Diagnostics"
    ]
  ],
  "openalex": "W7172297768",
  "pdf_url": "https://europepmc.org/articles/PMC13726124?pdf=render",
  "pmcid": "PMC13726124",
  "pmid": "42972399",
  "published": "2026-08-03",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/5sm2nmpmkggq4.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T15:20:49Z",
      "native_id": "MED:42972399",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42972399"
    },
    {
      "first_seen": "2026-11-05T12:22:32Z",
      "native_id": "PMC13726124",
      "source": "pmc",
      "url": "https://doi.org/10.1186/s12916-026-05100-7"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2735|Prenatal Screening and Diagnostics",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Genomics screening views and practices in South East Asian, Indian and Chinese populations: a scoping review.",
  "title_text": "Genomics screening views and practices in South East Asian, Indian and Chinese populations: a scoping review.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-06T12:22:09Z",
  "url": "https://research.draconitic.com/paper/5sm2nmpmkggq4",
  "venue": "BMC medicine",
  "versions": []
}