The China Neonatal Genomes Project

NCT03931707 | Recruiting DMC

• 1 other identifier: CHFudanU_NNICU11
• Study Type: observational
• Target: 100,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Newborn; Hereditary Disease; Genetic Predisposition to Disease; Defect, Congenital

Keywords

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

Outcome Measures

Primary Outcomes (2)

• 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.

• 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.

Study Arms (1)

Sick Neonatal Cohort, Sequencing

Infants and their parents enrolled through Neonatal Intensive Care Unit of member hospitals who are un-randomized to receive genomic sequencing. Results disclosure sessions will include a discussion of: family history report, results from standard newborn screening, any potentially medically relevant findings from the baby's medical history/physical exam, and the results of the genomic sequencing report.

Genetic: Genomic sequencing

Interventions

Genomic sequencing GENETIC

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.

Sick Neonatal Cohort, Sequencing

Eligibility Criteria

• Age: Up to 28 Days
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

The subjects were all from all the member organizations participating in the China Newborn Genome Project. They were hospitalized in the neonatal department of each member hospital.

You may qualify if:

• \. Both parents are of Chinese origin;
• \. Postnatal age less than 28 days;
• \. Can be retained to at least 1ml venous blood sample;
• \. Biological parent or guardian's informed consent.

You may not qualify if:

• \. the nationality of one of the parents is not the Han nationality or other national minorities;
• \. reluctance of parents to use genetic sequencing data for subsequent research;
• \. parents under 18 years of age or incapacitated for decision-making;
• \. subjects older than 28 days.
• \. multiple pregnancies;
• \. lack of access to biological samples from which DNA can be extracted;
• \. failure to sign informed consent

Sponsors & Collaborators

• Children's Hospital of Fudan University: lead

Study Sites (1)

Children Hospital of Fudan University

Shanghai, Shanghai Municipality, 201102, China

RECRUITING

Related Publications (9)

• 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.

  PMID: 24618965 BACKGROUND

• 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.

  PMID: 25474344 BACKGROUND

• 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.

  PMID: 21920049 BACKGROUND

• 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.

  PMID: 22248320 BACKGROUND

• 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.

  PMID: 23035047 BACKGROUND

• 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.

  PMID: 25229935 BACKGROUND

• 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.

  PMID: 24406460 BACKGROUND

• 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.

  PMID: 25255367 BACKGROUND

• Chen X, Chen Y, Xiao T, Dong X, Lu Y, Qian Y, Wang H, Zhou W. CYP2C9*3 Increases the Ibuprofen Response of Hemodynamically Significant Patent Ductus Arteriosus in the Infants with Gestational Age of More Than 30 Weeks. Phenomics. 2021 Nov 11;2(1):72-77. doi: 10.1007/s43657-021-00028-9. eCollection 2022 Feb.

  PMID: 36939774 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Any newborn who joined the newborn genome project, his/her parents will be informed and signed informed consent, in the newborn clinical treatment process to collect venous blood 2ml for gene sequencing and mutation screening.

MeSH Terms

Conditions

Genetic Diseases, Inborn; Genetic Predisposition to Disease; Congenital Abnormalities

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Wenhao Zhou

  Children's Hospital of Fudan University

  STUDY CHAIR

Central Study Contacts

Wenhao Zhou

CONTACT

zwhchfu@126.com

Lin Yang

CONTACT

yanglin_fudan@163.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 28, 2019
• First Posted: April 30, 2019
• Study Start: August 8, 2016
• Primary Completion (Estimated): December 30, 2026
• Study Completion (Estimated): December 30, 2026
• Last Updated: March 16, 2026

Record last verified: 2026-03

Locations

CN (1)