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

Inclusion Criteria4

Symptomatic male or female children ages 0-21 who have un unknown medical condition thought to have an underlying genetic cause after parental consent has been obtained.
Willingness of referring provider or other qualified medical staff member to participate in this study by facilitating collection of biologic specimens and clinical information.
Patient whose medical condition can be reasonably attributed to a possible genetic etiology.
Patient have had at least one diagnostic test without a definite diagnosis.

Exclusion Criteria3

Unwillingness to consent to research.
Affected adults (\>21 years of age), unless they are a biological relative of the affected child.
Any patient whose medical condition cannot be reasonably attributed to a possible genetic etiology or there is a prior diagnosis that explains the child's clinical presentation.

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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.