Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China
ObjectivesWhole exome sequencing (WES) has been widely used to detect genetic disorders in critically ill children. Relevant data are lacking in pediatric intensive care units (PICUs) of China. This study aimed to investigate the spectrum of monogenic disorders, the diagnostic yield and clinical uti...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-09-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.677699/full |
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Article |
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DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Yingchao Liu Yingchao Liu Chanjuan Hao Kechun Li Kechun Li Xuyun Hu Hengmiao Gao Hengmiao Gao Jiansheng Zeng Jiansheng Zeng Ruolan Guo Jun Liu Jun Guo Zheng Li Zheng Li Zhan Qi Xinlei Jia Xinlei Jia Wei Li Suyun Qian Suyun Qian |
| spellingShingle |
Yingchao Liu Yingchao Liu Chanjuan Hao Kechun Li Kechun Li Xuyun Hu Hengmiao Gao Hengmiao Gao Jiansheng Zeng Jiansheng Zeng Ruolan Guo Jun Liu Jun Guo Zheng Li Zheng Li Zhan Qi Xinlei Jia Xinlei Jia Wei Li Suyun Qian Suyun Qian Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China Frontiers in Genetics whole exome sequence pediatric intensive care unit monogenic disorders clinical application effective |
| author_facet |
Yingchao Liu Yingchao Liu Chanjuan Hao Kechun Li Kechun Li Xuyun Hu Hengmiao Gao Hengmiao Gao Jiansheng Zeng Jiansheng Zeng Ruolan Guo Jun Liu Jun Guo Zheng Li Zheng Li Zhan Qi Xinlei Jia Xinlei Jia Wei Li Suyun Qian Suyun Qian |
| author_sort |
Yingchao Liu |
| title |
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China |
| title_short |
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China |
| title_full |
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China |
| title_fullStr |
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China |
| title_full_unstemmed |
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China |
| title_sort |
clinical application of whole exome sequencing for monogenic disorders in picu of china |
| publisher |
Frontiers Media S.A. |
| series |
Frontiers in Genetics |
| issn |
1664-8021 |
| publishDate |
2021-09-01 |
| description |
ObjectivesWhole exome sequencing (WES) has been widely used to detect genetic disorders in critically ill children. Relevant data are lacking in pediatric intensive care units (PICUs) of China. This study aimed to investigate the spectrum of monogenic disorders, the diagnostic yield and clinical utility of WES from a PICU in a large children’s hospital of China.MethodsFrom July 2017 to February 2020, WES was performed in 169 critically ill children with suspected monogenic diseases in the PICU of Beijing Children’s Hospital. The clinical features, human phenotype ontology (HPO) terms, and assessment of clinical impact were analyzed.ResultsThe media age of the enrolled children was 10.5 months (range, 1 month to 14.8 years). After WES, a total of 43 patients (25%) were diagnosed with monogenic disorders. The most common categories of diseases were metabolic disease (33%), neuromuscular disease (19%), and multiple deformities (14%). The diagnosis yield of children with “metabolism/homeostasis disorder” and “growth delay” or “ocular anomalies” was higher than that of children without these features. In addition, the diagnosis rate increased when more features were observed in children. The results of WES had an impact on the treatment for 30 cases (70%): (1) change of treatment (n = 11), (2) disease monitoring initiation (n = 18), (3) other systemic evaluation (n = 3), (4) family intervention (n = 2), and (5) rehabilitation and redirection of care toward palliative care (n = 12).ConclusionWES can be used as an effective diagnostic tool in the PICU of China and has an important impact on the treatment of patients with suspected monogenic conditions. |
| topic |
whole exome sequence pediatric intensive care unit monogenic disorders clinical application effective |
| url |
https://www.frontiersin.org/articles/10.3389/fgene.2021.677699/full |
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doaj-84e7d6a1d2e445408b5372bc0b1c30432021-09-04T01:40:06ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-09-011210.3389/fgene.2021.677699677699Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of ChinaYingchao Liu0Yingchao Liu1Chanjuan Hao2Kechun Li3Kechun Li4Xuyun Hu5Hengmiao Gao6Hengmiao Gao7Jiansheng Zeng8Jiansheng Zeng9Ruolan Guo10Jun Liu11Jun Guo12Zheng Li13Zheng Li14Zhan Qi15Xinlei Jia16Xinlei Jia17Wei Li18Suyun Qian19Suyun Qian20Pediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaResearch Unit of Critical Infection in Children, Chinese Academy of Medical Sciences (2019RU016), Beijing, ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaPediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaResearch Unit of Critical Infection in Children, Chinese Academy of Medical Sciences (2019RU016), Beijing, ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaPediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaResearch Unit of Critical Infection in Children, Chinese Academy of Medical Sciences (2019RU016), Beijing, ChinaPediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaResearch Unit of Critical Infection in Children, Chinese Academy of Medical Sciences (2019RU016), Beijing, ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaResearch Unit of Critical Infection in Children, Chinese Academy of Medical Sciences (2019RU016), Beijing, ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaPediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaResearch Unit of Critical Infection in Children, Chinese Academy of Medical Sciences (2019RU016), Beijing, ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaPediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaResearch Unit of Critical Infection in Children, Chinese Academy of Medical Sciences (2019RU016), Beijing, ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaPediatric Intensive Care Unit, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaResearch Unit of Critical Infection in Children, Chinese Academy of Medical Sciences (2019RU016), Beijing, ChinaObjectivesWhole exome sequencing (WES) has been widely used to detect genetic disorders in critically ill children. Relevant data are lacking in pediatric intensive care units (PICUs) of China. This study aimed to investigate the spectrum of monogenic disorders, the diagnostic yield and clinical utility of WES from a PICU in a large children’s hospital of China.MethodsFrom July 2017 to February 2020, WES was performed in 169 critically ill children with suspected monogenic diseases in the PICU of Beijing Children’s Hospital. The clinical features, human phenotype ontology (HPO) terms, and assessment of clinical impact were analyzed.ResultsThe media age of the enrolled children was 10.5 months (range, 1 month to 14.8 years). After WES, a total of 43 patients (25%) were diagnosed with monogenic disorders. The most common categories of diseases were metabolic disease (33%), neuromuscular disease (19%), and multiple deformities (14%). The diagnosis yield of children with “metabolism/homeostasis disorder” and “growth delay” or “ocular anomalies” was higher than that of children without these features. In addition, the diagnosis rate increased when more features were observed in children. The results of WES had an impact on the treatment for 30 cases (70%): (1) change of treatment (n = 11), (2) disease monitoring initiation (n = 18), (3) other systemic evaluation (n = 3), (4) family intervention (n = 2), and (5) rehabilitation and redirection of care toward palliative care (n = 12).ConclusionWES can be used as an effective diagnostic tool in the PICU of China and has an important impact on the treatment of patients with suspected monogenic conditions.https://www.frontiersin.org/articles/10.3389/fgene.2021.677699/fullwhole exome sequencepediatric intensive care unitmonogenic disordersclinical applicationeffective |