Defect, Congenital, Genetic Predisposition to Disease, Hereditary Disease, Newborn
Conditions
Keywords
Newborn, Hereditary Disease, Genetic Predisposition to Disease, Defect, Congenital, Genome Sequencing, Exome Sequencing, Newborn Screening, Genetic Diseases, Inborn
Brief summary
The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.
Detailed description
There are about 900,000 new cases of birth defects in China every year. There are a large number of hereditary diseases, such as primary immune deficiency diseases, genetic metabolic diseases and multiple malformation syndrome, etc. It is important to identify and diagnose these diseases early in life, which can optimize the treatment strategy, improve the quality of life, and achieve the purpose of accurate treatment. To improve the level of diagnosis and prevention of genetic diseases in children is conducive to the birth and education of newborn in our country. The China Neonatal Genome Project is an important part of the China Human single Target Genome Project. The investigators plan to complete genetic testing of 100,000 newborns within 5 years, establish genetic testing standards for genetic diseases of newborns, and promote precise intervention for birth defects. The Genetic Counseling Branch of China Genetics Society, the Pediatrics Hospital affiliated to Fudan University and hundreds of hospitals in China jointly launched the Chinese newborn Genome Project in Shanghai, China. The project will carry out the genetic testing of 100000 neonates in the next 5 years. The study physician and genetic counselor will provide the consultation to families utilizing all available medical information. In the sequencing analysis of the study, this will include the medical history, physical exam, family history, standard newborn screening report. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.
Interventions
GENETICGenomic sequencing
Both sick and high-risk newborn un-randomized to receive genomic sequencing will receive a Genomic Newborn Sequencing Report which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset disease.
Sponsors
Children's Hospital of Fudan University
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
No minimum to 28 Days
Healthy volunteers
Yes
Inclusion criteria
* 1\. Both parents are of Chinese origin; * 2\. Postnatal age less than 28 days; * 3\. Can be retained to at least 1ml venous blood sample; * 4\. Biological parent or guardian's informed consent.
Exclusion criteria
* 1\. the nationality of one of the parents is not the Han nationality or other national minorities; * 2\. reluctance of parents to use genetic sequencing data for subsequent research; * 3\. parents under 18 years of age or incapacitated for decision-making; * 4\. subjects older than 28 days. * 5\. multiple pregnancies; * 6\. lack of access to biological samples from which DNA can be extracted; * 7\. failure to sign informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of gene sequencing data in neonatal gene bank | From birth to completion of genetic screening, the process last up to 3 months. | Each newborn that was sequenced was counted as 1. Keep all the data in the gene bank, and finally calculate the number of completed gene sequencing data. |
| Gene mutation rate | From birth to completion of genetic screening, the process last up to 3 months. | Taking the number of newborn babies as denominator and the number of neonates with gene mutation detected in gene sequencing as molecules, the whole neonatal gene mutation rate in China was obtained. |
Countries
China
Contacts
CONTACTWenhao Zhou
CONTACTLin Yang
STUDY_CHAIRWenhao Zhou
Children's Hospital of Fudan University
Outcome results
None listed