Newborn Screening Developing Programs in Asia

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: 31 December 2026 | Viewed by 507

Special Issue Editors


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Guest Editor
1. National Newborn Screening and Global Resource Center, Austin, TX 78759, USA
2. Department of Pediatrics, School of Medicine, University of Texas at San Antonio, Floyd Curl Dr, San Antonio, TX, USA
Interests: newborn screening; policy development; program audit; data management; laboratory techniques; developing programs; guidelines

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Guest Editor
1. Department of Pediatrics, College of Medicine, University of the Philippines Manila, Pedro Gil St., Ermita, Manila 1000, Philippines
2. Newborn Screening Reference Center, National Institutes of Health, Pedro Gil St., Ermita, Manila 1000, Philippines
Interests: newborn screening; inborn errors in metabolism; rare diseases; birth defects; congenital anomalies; clinical genetics; genomics; policy development
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Special Issue Information

Dear Colleagues,

Soon after Guthrie reported his newborn screening (NBS) methodology in 1963, others began to develop NBS programs internationally. The first Asian NBS program was launched in Japan in 1967. In the early 1990s, the International Atomic Energy Agency (IAEA) began providing limited support to assist NBS implementation in developing countries, and technical expertise was provided by international NBS experts, often from the International Society for Neonatal Screening. A formal network of IAEA-supported Asian countries was developed as a funded project in 1999 that included Bangladesh, China (excluding Special Autonomous Regions where NBS was already ongoing), Indonesia, Korea (South), Malaysia, Mongolia, Myanmar, Nepal, Pakistan, Philippines, Sri Lanka, Thailand, and Vietnam with initial expert support from the USA. This project was eventually expanded to include programs that were being developed in ‘West Asia’. Active project participants included Iran, Iraq, Syria, Jordan, Iran, and United Arab Emirates [1,2].

With the discontinuation of IAEA funding support in 2007, the ‘East Asia’ countries with less than 50% screening coverage (China, Indonesia, Mongolia, Myanmar, Nepal, Pakistan, Philippines, Philippines, and Sri Lanka) continued their collaborations in 2008 as a Working Group of the Asia Pacific Society for Human Genetics. Other interested developing programs in the region not previously included (Cambodia, India, and Laos) were added to this group [3]. 

Approximately half of all births globally occur in Asia, and it is important to develop and maintain sustainable NBS programs there. This Special Issue of the International Journal of Neonatal Screening will focus on activities in developing newborn screening systems in Asia, including those whose screening coverage may now exceed 50%. We look forward to discussions of local NBS history and current activities so that we can better understand the challenges in developing and sustaining NBS in these countries (note: a previous Special Issue detailed screening activities in Japan [4]).

References

  1. Padilla CD, Therrell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis. 2007 Aug;30:490-506. doi: 10.1007/s10545-007-0687-7.
  2. Solanki KK. Training programmes for developing countries. J Inherit Metab Dis. 2007 Aug;30:596-9. doi: 10.1007/s10545-007-0680-1.
  3. Padilla CD, Therrell BL Jr; Working Group of the Asia Pacific Society for Human Genetics on Consolidating Newborn Screening Efforts in the Asia Pacific Region. Consolidating newborn screening efforts in the Asia Pacific region : Networking and shared education. J Community Genet. 2012 Jan;3:35-45. doi: 10.1007/s12687-011-0076-7.
  4. Tajima T. Newborn Screening in Japan-2021. Int J Neonatal Screen. 2022 Jan 4;8(1):3. doi: 10.3390/ijns8010003.

Prof. Dr. Bradford L. Therrell
Prof. Dr. Carmencita D. Padilla
Guest Editors

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Keywords

  • newborn screening
  • international atomic energy agency (IAEA)
  • cost benefit/cost effectiveness
  • infant mortality
  • ministry of health
  • partnerships
  • sustainability
  • expansion

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Published Papers (1 paper)

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Review

16 pages, 686 KB  
Review
Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction
by Ahmed H. Mujamammi
Int. J. Neonatal Screen. 2026, 12(2), 35; https://doi.org/10.3390/ijns12020035 - 13 May 2026
Viewed by 119
Abstract
The Saudi Arabia National Newborn Screening (NBS) program is a pillar of public health, offering timely detection of treatable, life-threatening, or disabling conditions in neonates. This comprehensive review critically examines the current laboratory diagnostic practices employed for metabolite analysis within this program. It [...] Read more.
The Saudi Arabia National Newborn Screening (NBS) program is a pillar of public health, offering timely detection of treatable, life-threatening, or disabling conditions in neonates. This comprehensive review critically examines the current laboratory diagnostic practices employed for metabolite analysis within this program. It focuses primarily on biochemical NBS conducted via dried blood spot testing and evaluates the methodologies, technical challenges, and stringent quality assurance measures that underpin successful screening. This review examines the critical role of tandem mass spectrometry, sample integrity protocols, and the establishment of robust cutoff values. Furthermore, this review explores persistent challenges such as false-positive and false-negative results, ethical and logistical hurdles in global implementation, and the transformative potential of recent advancements, including the integration of genomics and high-resolution metabolomics. In addition, this review explores the future of the program, highlighting the transformative potential of high-resolution metabolomics and the integration of genomic sequencing to ensure early diagnosis and intervention. Full article
(This article belongs to the Special Issue Newborn Screening Developing Programs in Asia)
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