Precision medicine via the integration of phenotype-genotype information in neonatal genome project
The explosion of next-generation sequencing (NGS) has enabled the widespread use of genomic data in precision medicine. Currently, several neonatal genome projects have emerged to explore the advantages of NGS to diagnose or screen for rare genetic disorders. These projects have made remarkable achi...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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KeAi Communications Co. Ltd.
2022-11-01
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| Series: | Fundamental Research |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2667325822002928 |
| _version_ | 1797976282247462912 |
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| author | Xinran Dong Tiantian Xiao Bin Chen Yulan Lu Wenhao Zhou |
| author_facet | Xinran Dong Tiantian Xiao Bin Chen Yulan Lu Wenhao Zhou |
| author_sort | Xinran Dong |
| collection | DOAJ |
| description | The explosion of next-generation sequencing (NGS) has enabled the widespread use of genomic data in precision medicine. Currently, several neonatal genome projects have emerged to explore the advantages of NGS to diagnose or screen for rare genetic disorders. These projects have made remarkable achievements, but still the genome data could be further explored with the assistance of phenotype collection. In contrast, longitudinal birth cohorts are great examples to record and apply phenotypic information in clinical studies starting at the neonatal period, especially the trajectory analyses for health development or disease progression. It is obvious that efficient integration of genotype and phenotype benefits not only the clinical management of rare genetic disorders but also the risk assessment of complex diseases. Here, we first summarize the recent neonatal genome projects as well as some longitudinal birth cohorts. Then, we propose two simplified strategies by integrating genotypic and phenotypic information in precision medicine based on current studies. Finally, research collaborations, sociological issues, and future perspectives are discussed. How to maximize neonatal genomic information to benefit the pediatric population remains an area in need of more research and effort. |
| first_indexed | 2024-04-11T04:48:31Z |
| format | Article |
| id | doaj.art-1eb06ff2cecf4bc7b90541f1cd0e0f52 |
| institution | Directory Open Access Journal |
| issn | 2667-3258 |
| language | English |
| last_indexed | 2024-04-11T04:48:31Z |
| publishDate | 2022-11-01 |
| publisher | KeAi Communications Co. Ltd. |
| record_format | Article |
| series | Fundamental Research |
| spelling | doaj.art-1eb06ff2cecf4bc7b90541f1cd0e0f522022-12-27T04:43:27ZengKeAi Communications Co. Ltd.Fundamental Research2667-32582022-11-0126873884Precision medicine via the integration of phenotype-genotype information in neonatal genome projectXinran Dong0Tiantian Xiao1Bin Chen2Yulan Lu3Wenhao Zhou4Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, ChinaDivision of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China; Department of Neonatology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610066, ChinaCenter for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, ChinaCenter for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, ChinaCenter for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China; Division of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China; Corresponding author.The explosion of next-generation sequencing (NGS) has enabled the widespread use of genomic data in precision medicine. Currently, several neonatal genome projects have emerged to explore the advantages of NGS to diagnose or screen for rare genetic disorders. These projects have made remarkable achievements, but still the genome data could be further explored with the assistance of phenotype collection. In contrast, longitudinal birth cohorts are great examples to record and apply phenotypic information in clinical studies starting at the neonatal period, especially the trajectory analyses for health development or disease progression. It is obvious that efficient integration of genotype and phenotype benefits not only the clinical management of rare genetic disorders but also the risk assessment of complex diseases. Here, we first summarize the recent neonatal genome projects as well as some longitudinal birth cohorts. Then, we propose two simplified strategies by integrating genotypic and phenotypic information in precision medicine based on current studies. Finally, research collaborations, sociological issues, and future perspectives are discussed. How to maximize neonatal genomic information to benefit the pediatric population remains an area in need of more research and effort.http://www.sciencedirect.com/science/article/pii/S2667325822002928Neonatal genome projectRare genetic disordersPrecision medicineGenotype and phenotype integrationLongitudinal birth cohort |
| spellingShingle | Xinran Dong Tiantian Xiao Bin Chen Yulan Lu Wenhao Zhou Precision medicine via the integration of phenotype-genotype information in neonatal genome project Fundamental Research Neonatal genome project Rare genetic disorders Precision medicine Genotype and phenotype integration Longitudinal birth cohort |
| title | Precision medicine via the integration of phenotype-genotype information in neonatal genome project |
| title_full | Precision medicine via the integration of phenotype-genotype information in neonatal genome project |
| title_fullStr | Precision medicine via the integration of phenotype-genotype information in neonatal genome project |
| title_full_unstemmed | Precision medicine via the integration of phenotype-genotype information in neonatal genome project |
| title_short | Precision medicine via the integration of phenotype-genotype information in neonatal genome project |
| title_sort | precision medicine via the integration of phenotype genotype information in neonatal genome project |
| topic | Neonatal genome project Rare genetic disorders Precision medicine Genotype and phenotype integration Longitudinal birth cohort |
| url | http://www.sciencedirect.com/science/article/pii/S2667325822002928 |
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