About this trial
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.
Eligibility criteria
Qualifiers
Patients with chronic diarrhea lasting greater than 2 months
Patients with consent from parents or legal guardians
Biological relative of a patient enrolled in this study.
Disqualifiers
Chronic diarrhea caused by specific infections, i.e. CMV, Clostridioides difficile
Chronic diarrhea with necrotizing enterocolitis, short bowel syndrome
Functional diarrhea
Patients with previously confirmed monogenic diarrhea
Trial design
Treatments tested in this trial
- Whole genome sequencing
- Whole exome sequencing