Diagnostic Odyssey: Whole Genome Sequencing (WGS)

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.

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 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.