中国新生儿基因组计划：迈向遗传病治疗的崭新未来

doi:10.12372/jcp.2024.24e0329

Abstract

Abstract:

With the advancement of science and technology, screening and diagnostic techniques for neonatal genetic diseases have made great leaps forward, especially the application of next-generation sequencing (NGS) technology, which has greatly improved the efficiency and accuracy of clinical applications. However, in the face of rapid diagnosis, it has become a new challenge to provide effective treatments to improve the overall prognosis of children.This article will start from the China Neonatal Genome Project, comprehensively and in-depth discuss the current status of newborn genetic disease screening and treatment, focus on the key issues of personalized treatment research and application, and propose efforts for future directions.

Key words: neonatal genetic diseases, genetic screening, whole genome sequencing, gene therapy, quality of life

ZHOU Wenhao. The China Neonatal Genome Project: towards a new future in the treatment of genetic diseases[J].Journal of Clinical Pediatrics, 2024, 42(5): 379-383.

References 19

[1]	Wu B, Kang W, Wang Y, et al. Application of full-spectrum rapid clinical genome sequencing improves diagnostic rate and clinical outcomes in critically ill infants in the China Neonatal Genomes Project[J]. Crit Care Med, 2021, 49(10): 1674-1683. doi: 10.1097/CCM.0000000000005052 pmid: 33935161
[2]	National Organization for Rare Diseases. Global Genes Project[EB/OL]. https://rarediseases.org/
[3]	Wang H, Qian Y, Lu Y, et al. Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants[J]. NPJ Genom Med, 2020, 5: 20. doi: 10.1038/s41525-020-0129-0 pmid: 32411386
[4]	Tan TY, Dillon OJ, Stark Z, et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions[J]. JAMA Pediatr, 2017, 171(9): 855-862. doi: 10.1001/jamapediatrics.2017.1755 pmid: 28759686
[5]	Meng L, Pammi M, Saronwala A, et al. Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management[J]. JAMA Pediatr, 2017, 171(12): e173438. doi: 10.1001/jamapediatrics.2017.3438
[6]	中国遗传学会遗传咨询分会. 中国新生儿基因组计划[DB/OL]. (2016) [2022-03-07]. http://www.cbgc.org.cn/projects/2016/0817/569.html?1487814155.
[7]	Genetic Counseling Branch of Chinese Genetic Society. China Neonatal Genome Project[DB/OL]. (2016) [2022-03-07]. http://www.cbgc.org.cn/projects/2016/0817/569.html?148781415.
[8]	Wojcik MH, Gold NB. Implications of genomic newborn screening for infant mortality[J]. Int J Neonatal Screen, 2023, 9(1): 12. doi: 10.3390/ijns9010012
[9]	Xiao T, Ni Q, Chen H, et al. High-risk phenotypes of genetic disease in a neonatal intensive care unit population[J]. Chin Med J (Engl), 2022, 135(5): 625-627.
[10]	Wang J, Zhou WH. Epigenetic clocks in the pediatric population: when and why they tick?[J]. Chin Med J (Engl), 2021, 134(24): 2901-2910.
[11]	Huang S, Liu S, Huang M, et al.. The Born in Guangzhou Cohort Study enables generational genetic discoveries[J]. Nature, 2024, 626(7999): 565-573. doi: 10.1038/s41586-023-06988-4
[12]	Zhu Y, Hu L, Yang L, et al. Association between expanded genomic sequencing combined with hearing screening and detection of hearing loss among newborns in a neonatal intensive care unit[J]. JAMA Netw Open, 2022, 5(7): e2220986.
[13]	Tong F, Wang J, Xiao R, et al. Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts[J]. World J Pediatr, 2022, 18(4): 235-242. doi: 10.1007/s12519-022-00522-8 pmid: 35292922
[14]	Singh S, Ojodu J, Kemper AR, et al. Implementation of newborn screening for conditions in the United States first recommended during 2010-2018[J]. Int J Neonatal Screen, 2023, 9(2): 20.
[15]	Dong X, Xiao T, Chen B, et al. Precision medicine via the integration of phenotype-genotype information in neonatal genome project[J]. 自然科学基础研究: 英文版, 2022.
[16]	Yang L, Kong Y, Dong X, et al. Clinical and genetic spectrum of a large cohort of children with epilepsy in China[J]. Genet Med, 2019, 21(3): 564-571. doi: 10.1038/s41436-018-0091-8 pmid: 29930392
[17]	Yang L, Liu X, Li Z, et al.. Genetic aetiology of early infant deaths in a neonatal intensive care unit[J]. J Med Genet, 2020, 57(3): 169-177. doi: 10.1136/jmedgenet-2019-106221 pmid: 31501239
[18]	Mei H, Dong X, Wu B, et al. Clinical and genetic etiologies of neonatal unconjugated hyperbilirubinemia in the China Neonatal Genomes Project[J]. J Pediatr, 2022, 243: 53-60. doi: 10.1016/j.jpeds.2021.12.038
[19]	Bainbridge MN, Wiszniewski W, Murdock DR, et al. Whole-genome sequencing for optimized patient management[J]. Sci Transl Med, 2011, 3(87): 87re3.

The China Neonatal Genome Project: towards a new future in the treatment of genetic diseases

RichHTML

PDF (PC)

Like

Knowledge

Abstract

Cite this article

share this article

References 19

Related Articles 15

Metrics

Comments

Recommended 0

[1]	CHEN Guoqing, ZHANG Huiwen. Gene therapy for mucopolysaccharidosis type Ⅱ [J]. Journal of Clinical Pediatrics, 2024, 42(3): 270-276.
[2]	JI Taoyun. Prospect of gene therapy for developmental and epileptic encephalopathy [J]. Journal of Clinical Pediatrics, 2023, 41(9): 650-655.
[3]	YANG Zhibo, LIU Li. Application of gene sequencing technology in precise diagnosis and mechanism research of monogenic lupus [J]. Journal of Clinical Pediatrics, 2023, 41(9): 715-720.
[4]	YANG Shuhui, LIU Yulin, YANG Fan, LUO Zhengxiu, LIU Enmei. Effect of respiratory rehabilitation on children with bronchial asthma: a prospective randomized controlled study [J]. Journal of Clinical Pediatrics, 2023, 41(5): 345-352.
[5]	ZHANG Ying, REN Qiaoli, ZHAO Ruiqiu, XU Hongmei, LONG Xiaoru. Comparison of the ratio method drug susceptibility test, micropore-plate method and whole-genome sequencing of anti-tuberculosis drugs in children [J]. Journal of Clinical Pediatrics, 2023, 41(2): 117-124.
[6]	XI Bixin, HU Qun, LIU Aiguo. Advances in the gene therapy for Fanconi anemia [J]. Journal of Clinical Pediatrics, 2023, 41(2): 156-160.
[7]	FANG Hongjun, YANG Sai, KUANG Xiaojun, JIANG Zhi, ZHOU Zhen, WANG Lijuan, WU Liwen, YANG Liming, LIU Shulei, LIAO Hongmei. Analysis of clinical phenotype and genotype in 171 children with Duchenne muscular dystrophy [J]. Journal of Clinical Pediatrics, 2022, 40(3): 189-195.
[8]	LIU Zuojia, WANG Xiumin, TANG Jiali, et al. Impact of caregiver burden on quality of life in Noonan syndrome children [J]. Journal of Clinical Pediatrics, 2021, 39(9): 677-.
[9]	ZOU Dongfang, WEN Feiqiu, LIAO Jianxiang. Combined oxidative phosphorylation deficiency-21: a case report and literature review [J]. Journal of Clinical Pediatrics, 2021, 39(9): 687-.
[10]	TIAN Yang, HOU Chi, LI Jinliang, et al. Pelizaeus-Merzbacher-like disease caused by a novel inherited mutation in the 5 ’UTR region of GJC 2 gene in two siblings [J]. Journal of Clinical Pediatrics, 2021, 39(3): 206-.
[11]	WEI Jianhua. Recent advances of clinical managements of primary ciliary dyskinesia [J]. Journal of Clinical Pediatrics, 2019, 37(2): 144-.
[12]	OU Hanbing. Progress on treatment of beta-thalassemia major [J]. Journal of Clinical Pediatrics, 2019, 37(2): 153-.
[13]	ZHANG Lei, JIE Xiaolin, LI Juan, CHAI Xiaojing, ZHU Junfang. Progress on genetics and therapy in the spinal muscular atrophy [J]. , 2017, 35(8): 632-.
[14]	JIANG Qinglian, BAO Lei. Analysis of the quality of life of 230 very low birth weight infants followed up to 6 months of corrected age [J]. , 2016, 34(3): 176-.
[15]	WANG Li, WANG Nianrong . Comparison of the quality of life before and after treatment of eczema in infants with or without food allergies [J]. , 2016, 34(10): 726-.