The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia

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.

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Publication Details

Journal
International Journal of Neonatal Screening
Published
2026-09-30
DOI
https://doi.org/10.3390/ijns12040079
Primary Topic
Metabolism and Genetic Disorders
Type
article
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article

The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia

Jimmy Kok-Foo Lee, Fook‐Choe Cheah, Seok Chiong Chee, Siao Hean Teh et al.
International Journal of Neonatal Screening
Metabolism and Genetic Disorders
article

The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia

Jimmy Kok-Foo Lee, Fook‐Choe Cheah, Seok Chiong Chee, Siao Hean Teh, Fahisham Taib, Erwin Jiayuan Khoo, Meow‐Keong Thong, Adli Ali, Sin Chuen Yong
article en

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.

International Journal of Neonatal ScreeningVol. 12(4)
University Malaya Medical Centre (MY), Harvard University (US), Universiti Sains Malaysia (MY), Hospital Kuala Lumpur (MY), Sarawak General Hospital (MY), Hospital Universiti Sains Malaysia (MY), Newcastle University Medicine Malaysia (MY), Taylor's University (MY), Universiti Tunku Abdul Rahman Sungai Long Campus (MY), IMU University (MY), Sunway University (MY), National University of Malaysia (MY), Universiti Tunku Abdul Rahman (MY)
Openalex Percentile: Top 15%
Metabolism and Genetic Disorders
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