{
  "abstract": "Newborn screening (NBS) is an essential public health intervention for early detection and secondary prevention of inherited disorders in asymptomatic infants at birth. Advances in this field and the accessibility of new screening methods and therapies in the last decade have insurmountably surpassed Malaysia's national NBS programme, which has stagnated. Currently, our mandatory nationwide routine screening is limited to only two conditions: glucose-6-phosphate dehydrogenase deficiency and congenital hypothyroidism. While services such as universal newborn hearing and critical congenital heart disease screening are available in many settings, most treatable genetic and metabolic disorders remain unscreened. Consequently, preventable morbidity and mortality, from inborn errors of immunity and metabolism, and genetic diseases persist. This position statement reviews the evidence for expanding the national NBS programme in Malaysia, arguing that a modernised, contemporary and pragmatic method is both clinically tenable and morally imperative. By embracing advancements for expanded NBS, Malaysia can safeguard children's right to an open future, fulfil intergenerational justice, and ensure that no infant is left without the opportunity for life-saving care.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Paediatrics, IMU University, Kuala Lumpur 57000, Malaysia.",
    "Center for Bioethics, Harvard Medical School, Boston, MA 02115, USA.",
    "M. Kandiah Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Kajang 43000, Selangor, Malaysia.",
    "Genetic Medicine Division, Universiti Malaya Medical Centre, Kuala Lumpur 59100, Malaysia.",
    "Department of Paediatrics, Pantai Hospital Kuala Lumpur, Kuala Lumpur 59100, Malaysia.",
    "School of Medicine, Faculty of Health and Medical Sciences, Taylor's University, Subang Jaya 47500, Selangor, Malaysia.",
    "Jeffrey Cheah School of Medicine & Health Sciences, Monash University Malaysia, Clinical School Johor Bahru, Johor Bahru 80100, Johor, Malaysia.",
    "Department of Paediatrics, Sarawak General Hospital, Kuching 93586, Sarawak, Malaysia.",
    "Department of Paediatrics, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian 16150, Kelantan, Malaysia.",
    "Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.",
    "Research Centre, Hospital Tunku Ampuan Besar Tuanku Aishah Rohani, Kuala Lumpur 56000, Malaysia.",
    "Jeffrey Cheah Sunway Medical School, Faculty of Medical and Life Sciences, Sunway University, Bandar Sunway, Subang Jaya 47500, Selangor, Malaysia."
  ],
  "article_type": "review article",
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Erwin Jiayuan Khoo",
      "orcid": "0000-0002-7498-2954"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Meow Keong Thong",
      "orcid": "0000-0002-7288-7910"
    },
    {
      "affs": [
        4
      ],
      "name": "Sin Chuen Yong"
    },
    {
      "affs": [
        5
      ],
      "name": "Seok Chiong Chee",
      "orcid": "0000-0002-1635-6015"
    },
    {
      "affs": [
        6
      ],
      "name": "Jimmy Kok Foo Lee",
      "orcid": "0000-0003-1495-7666"
    },
    {
      "affs": [
        7
      ],
      "name": "Siao Hean Teh"
    },
    {
      "affs": [
        8
      ],
      "name": "Fahisham Taib",
      "orcid": "0000-0001-7088-4620"
    },
    {
      "affs": [
        9,
        10
      ],
      "name": "Adli Ali"
    },
    {
      "affs": [
        11
      ],
      "name": "Fook Choe Cheah",
      "orcid": "0000-0002-1137-6295"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/cdeqj6w232avw.bib",
  "cited_by": 0,
  "doi": "10.3390/ijns12040079",
  "fulltext_url": "https://europepmc.org/articles/PMC13692340",
  "id": "cdeqj6w232avw",
  "issns": [
    "2409-515X"
  ],
  "landing_url": "https://europepmc.org/article/MED/42924756",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1308|Metabolism and Genetic Disorders"
    ]
  ],
  "openalex": "W7202292042",
  "pdf_url": "https://europepmc.org/articles/PMC13692340?pdf=render",
  "pmcid": "PMC13692340",
  "pmid": "42924756",
  "published": "2026-09-30",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/cdeqj6w232avw.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:36Z",
      "native_id": "MED:42924756",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42924756"
    }
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:1308|Metabolism and Genetic Disorders",
      "subfield": "general"
    }
  ],
  "title": "The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia.",
  "title_text": "The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:20:36Z",
  "url": "https://research.draconitic.com/paper/cdeqj6w232avw",
  "venue": "International journal of neonatal screening",
  "versions": []
}