RecruitingNCT03458962

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children

Sponsor

Nicklaus Children's Hospital f/k/a Miami Children's Hospital

Enrollment

1,000 participants

Start Date

Feb 20, 2018

Study Type

OBSERVATIONAL

Conditions

Genetic Disease Genetic Syndrome

Summary

The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.

Eligibility

Max Age: 21 Years

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying Genetic Enrollees for people with genetic disease and genetic syndrome. The study is currently recruiting participants at 1 location. People eligible for this study include up to age 21 Years.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

GENETICGenetic Enrollees

Identification of new genetic diagnoses in children with multiple congenital anomalies, developmental delay, autism, seizures, intellectual disabilities, neurodegenerative disorders and metabolic illness. Samples and data will be stored in a pediatric biorepository. A subset of samples will undergo genetic/genomic analysis.