Genetic testing of newborns in China

The China Neonatal Genomes Project

This study is testing genetic testing on newborns in China to see if it can help identify inherited diseases early and improve treatment options for babies.

Quick facts

• Study type: Observational
• Enrollment: 100000 (estimated)
• Ages: N/A to 28 Days
• Sex: All
• Sponsor: Children's Hospital of Fudan University (Academic / other)
• Locations: 1 site (Shanghai, Shanghai Municipality)
• Trial ID: NCT03931707 on ClinicalTrials.gov

What this trial studies

The China Neonatal Genomes Project aims to conduct genetic testing on 100,000 neonates over five years to create a comprehensive neonatal genome database. This observational project focuses on identifying hereditary diseases and genetic predispositions in newborns, which can lead to early diagnosis and optimized treatment strategies. The initiative seeks to establish genetic testing standards for neonatal genetic diseases and enhance genetic counseling training. By analyzing medical histories, physical exams, and standard newborn screening reports, the project aims to improve the quality of life for affected children.

Who should consider this trial

Good fit: Ideal candidates for this project are neonates of Chinese origin who are less than 28 days old and can provide a venous blood sample.

Not a fit: Patients who may not benefit include those whose parents are not of Chinese origin or those who are older than 28 days.

Why it matters

Potential benefit: If successful, this project could significantly enhance early diagnosis and treatment of genetic diseases in newborns, leading to better health outcomes.

How similar studies have performed: Other studies focusing on genetic testing in newborns have shown promise, indicating that this approach could be effective in improving early diagnosis and treatment.

Eligibility criteria

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

Where this trial is running

Shanghai, Shanghai Municipality

• Children Hospital of Fudan University — Shanghai, Shanghai Municipality, China (Recruiting)

Study contacts

• Study coordinator: Wenhao Zhou

Conditions Newborn; Hereditary Disease; Genetic Predisposition to Disease; Defect, Congenital; Genome Sequencing; Exome Sequencing; Newborn Screening; Genetic Diseases, Inborn