The China Neonatal Genomes Project

Condition(s) studied

Investigational drug(s) / intervention(s)

Genomic 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.

Study 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.

Eligibility

Primary outcome measure(s)

• 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.

Trial sites (1)

More Children's Hospital of Fudan University trials in China

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