Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty

A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq)

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.

Inclusion Criteria:

• 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.

Exclusion Criteria:

• 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
• Patients with poor compliance