The China Neonatal Genomes Project

Newborn Clinical Trial

— CNGP  

Official title:

The China Neonatal Genomes Project

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03931707
• Other study ID #: CHFudanU_NNICU11
• Status: Recruiting
• Start date: August 8, 2016
• Est. completion date: December 30, 2026

Study information

• Verified date: September 2023
• Source: Children's Hospital of Fudan University
• Contact: Wenhao Zhou
• Email: zwhchfu[@]126.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100000
• Est. completion date: December 30, 2026
• Est. primary completion date: December 30, 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A to 28 Days

Eligibility

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

Related Conditions & MeSH terms

• Congenital Abnormalities
• Defect, Congenital
• Disease Susceptibility
• Genetic Diseases, Inborn
• Genetic Predisposition to Disease
• Hereditary Disease
• Newborn

Intervention

Genetic:
• 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.

Locations

Country	Name	City	State
China	Children Hospital of Fudan University	Shanghai	Shanghai

Sponsors (1)

Lead Sponsor	Collaborator
Children's Hospital of Fudan University

Country where clinical trial is conducted

China, 

References & Publications (8)

Bhattacharjee A, Sokolsky T, Wyman SK, Reese MG, Puffenberger E, Strauss K, Morton H, Parad RB, Naylor EW. Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. Genet Med. 2015 May;17(5):337-47. doi: 10.1038/gim.2014.117. Epub 2014 Sep 25. — View Citation

Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014 Sep 18;371(12):1170. doi: 10.1056/NEJMc1408914. No abstract available. — View Citation

Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T. Clinical interpretation and implications of whole-genome sequencing. JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717. — View Citation

Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biol. 2011 Sep 14;12(9):228. doi: 10.1186/gb-2011-12-9-228. — View Citation

Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med. 2012;63:35-61. doi: 10.1146/annurev-med-051010-162644. — View Citation

Holm IA, Savage SK, Green RC, Juengst E, McGuire A, Kornetsky S, Brewster SJ, Joffe S, Taylor P. Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board. Genet Med. 2014 Jul;16(7):547-52. doi: 10.1038/gim.2013.190. Epub 2014 Jan 9. — View Citation

Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041. — View Citation

Waisbren SE, Back DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun;17(6):501-4. doi: 10.1038/gim.2014.139. Epub 2014 Dec 4. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of gene sequencing data in neonatal gene bank	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.	From birth to completion of genetic screening, the process last up to 3 months.
Primary	Gene mutation rate	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.	From birth to completion of genetic screening, the process last up to 3 months.