Page 46 - DIGITAL e-Book RCPH 2026

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1 REGIONAL CONFERENCE onon O r g a n i s e d b y :
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Abstracts for 1st Regional Conference on Precision Health (RCPH)
15-16th April 2026, Royale Chulan Kuala Lumpur
Implementation of NESTS Program in China: 10-Year Experience of Targeted
Genomic Newborn Screening
Wei Li 1, 2, 3 , Chanjuan Hao 1, 2, 3 and Xin Ni 1, 2, 3
1
Beijing Children’s Hospital, Capital Medical University, China
2 Beijing Pediatric Research Institute, China
3
National Center for Children’s Health, China
ABSTRACT
Genomic newborn screening (gNBS) has been widely implemented in clinical practice. Since 2015, we
have developed the NESTS program (Newborn Screening with Targeted Sequencing) and
implemented in multiple hospitals national wide. 465 OMIM genes covering 596 severely affected
early-onset phenotypes were originally screened by next-generation sequencing. We conducted
NESTS on 33,894 newborns. 49.2% newborns were identified carrying at least one pathogenic or likely
pathogenic (P/LP) variants across 427 (91.8%) genes. On average, each newborn carried 0.7 P/LP
variants. About 1% newborns were estimated to be affected. We also calculated the cumulative carrier
rate, disease-specific prevalence, and regional differences based on the P/LP frequencies. We have
compared the efficiency of gNBS with conventional NBS programs such as newborn tandem mass
spectrometry, universal newborn hearing screening. We proposed to have NESTS as the first-tier NBS
program complemented by other newborn tests. We have upgraded our NESTS program to 737 OMIM
genes with 1264 OMIM phenotypes by showing about 19% preliminary positive cases which require
intensive pediatric examinations. Based on our experience, a closed-loop management is critical for
gNBS, especially variant interpretation, genetic counseling and precision pediatric care. Our NESTS
program has been implemented into the 3-tier provincial network of children’s hospitals. Ethical
concerns and parental anxiety should be carefully dealt with during genetic counseling. Technique
advances are applied to gNBS. Probe contigs are developed for chromosomal micro-
deletions/duplications. Tertiary-generation sequencing are designed for homologous genes,
pseudogenes, long tandem repeats, genomic recombinations. Gene-specific multiplexed assays of
variant effects (MAVEs) are recommended for evaluating the variants of unknown significance (VUS).
Our findings and clinical practice provide a critical foundation for gNBS practice in China and for
optimizing public health strategies.

Keywords: Newborn Screening, Targeted Sequencing, Variant Interpretation, Mendelian Disease
Prevalence