The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia.
12 affiliations
- 1Department of Paediatrics, IMU University, Kuala Lumpur 57000, Malaysia.
- 2Center for Bioethics, Harvard Medical School, Boston, MA 02115, USA.
- 3M. Kandiah Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Kajang 43000, Selangor, Malaysia.
- 4Genetic Medicine Division, Universiti Malaya Medical Centre, Kuala Lumpur 59100, Malaysia.
- 5Department of Paediatrics, Pantai Hospital Kuala Lumpur, Kuala Lumpur 59100, Malaysia.
- 6School of Medicine, Faculty of Health and Medical Sciences, Taylor's University, Subang Jaya 47500, Selangor, Malaysia.
- 7Jeffrey Cheah School of Medicine & Health Sciences, Monash University Malaysia, Clinical School Johor Bahru, Johor Bahru 80100, Johor, Malaysia.
- 8Department of Paediatrics, Sarawak General Hospital, Kuching 93586, Sarawak, Malaysia.
- 9Department of Paediatrics, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian 16150, Kelantan, Malaysia.
- 10Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.
- 11Research Centre, Hospital Tunku Ampuan Besar Tuanku Aishah Rohani, Kuala Lumpur 56000, Malaysia.
- 12Jeffrey Cheah Sunway Medical School, Faculty of Medical and Life Sciences, Sunway University, Bandar Sunway, Subang Jaya 47500, Selangor, Malaysia.
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.
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BibTeX
@article{khoo2026current,
title = {{The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia.}},
author = {Erwin Jiayuan Khoo and Meow Keong Thong and Sin Chuen Yong and Seok Chiong Chee and Jimmy Kok Foo Lee and Siao Hean Teh and Fahisham Taib and Adli Ali and Fook Choe Cheah},
journal = {International journal of neonatal screening},
year = {2026},
month = sep,
doi = {10.3390/ijns12040079},
url = {https://europepmc.org/article/MED/42924756},
note = {CC BY},
}
RIS
TY - JOUR
TI - The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia.
AU - Erwin Jiayuan Khoo
AU - Meow Keong Thong
AU - Sin Chuen Yong
AU - Seok Chiong Chee
AU - Jimmy Kok Foo Lee
AU - Siao Hean Teh
AU - Fahisham Taib
AU - Adli Ali
AU - Fook Choe Cheah
PY - 2026
DA - 2026/09/30
JO - International journal of neonatal screening
DO - 10.3390/ijns12040079
UR - https://europepmc.org/article/MED/42924756
AB - 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.
SN - 2409-515X
ER -