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Published on: June 25, 2010
Genomic sequencing enhances metabolic newborn screening in Thailand
Chulaluck Kuptanon1, Pawinee Innark2, Kannikar Punnapum2
1Medical Genetics Section, Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand; Department of Pediatrics, College of Medicine, Rangsit University, Bangkok, Thailand.
Objectives:
Thailand expanded metabolic newborn screening (NBS) program to include inherited metabolic diseases (IMDs) using tandem mass spectrometry since 2022. Molecular testing has increasingly been used as a second-tier tool to clarify ambiguous results or confirm diagnosis for abnormal metabolic NBS screening. This study aimed to assess the performance of whole genome sequencing (WGS) as a second-tier test for abnormal IMD screening results in Thai neonates.
Design And Methods:
From August 2023 to December 2024, neonates with abnormal IMD screens were recruited for WGS, in addition to the routine biochemical confirmation.
Results:
Seventy-four newborns and 27 mothers were included in the study. Biochemical testing confirmed 40 IMDs, 12 borderline, and 21 normal cases, while WGS identified 3 additional IMDs and 8 carriers. Among 73 newborns, WGS identified 41 IMD cases and 32 normal (22 carriers), achieving 95% sensitivity, 100% specificity, 100% positive predictive value, and 97% negative predictive value. WGS refined disease subtypes, resolved borderline amino acid abnormalities, and guided individualized management. Limitations included missed large structural variants and lower sensitivity for detecting single heterozygous variants, emphasizing that molecular testing complements rather than replaces biochemical confirmation.
Conclusions:
WGS as a second-tier test enhances diagnostic precision, clarifies ambiguous NBS results, supports early, targeted intervention, and precision care in Thai newborns.
