Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
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.
Description
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, in order to understand the potential value of WGS in establishing a 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. Other clinical information of the type collected by treating physicians and stored in electronic m…
Eligibility
- Age range
- Up to 21 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * 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 Criteria: * Unwillingness to consent to re…
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.
Location
- Nickalus Children's Hospital f/k/a Miami Children's HospitalMiami, Florida