This study will seek to determine if whole genome sequencing (WGS) improves diagnostic rates, and outcomes for congenital diarrhea and enteropathy (CODE) patients. The investigator will enroll 180 patients in a randomized controlled study to either WGS or whole exome sequencing (WES). This study is designed to evaluate whether CODE patients would benefit from WGS guided precision medicine.
Study Type
INTERVENTIONAL
Allocation
RANDOMIZED
Purpose
DIAGNOSTIC
Masking
DOUBLE
Enrollment
180
Genomic sequencing and molecular diagnostic results
Genomic sequencing and molecular diagnostic results
Ying Huang
Shanghai, Shanghai Municipality, China
RECRUITINGDiagnostic rates between WGS and WES
Diagnostic rate of genome and exome based on rate of clinically confirmed diagnoses.
Time frame: Within approximately 60 days of enrollment
Number of patients receiving precision medicine guided by sequencing results
Rate of application of precision medicine suggested by the results of WGS or WES.
Time frame: Within approximately 60 days of enrollment
Mortality of patients
Mortality of patients after WGS and WES
Time frame: Within approximately 1 year of enrollment
Rate of parental satisfaction with sequencing
Parental satisfaction with decision to pursue sequencing based on questionnaire survey
Time frame: Within one week of patient enrollment
Number of parents who are available for trio sequencing
Number of subjects in which both parents are available for trio sequencing
Time frame: Within one week of patient enrollment
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.