Genomic Diagnoses for Children with Developmental Delay

The HudsonAlpha Genomic Diagnoses for Children with Developmental Delay is a pediatric genomics project targeted at children with developmental delay, intellectual disability and related health problems ("DD/ID"). This project aims to use whole exome sequencing (WES) and CNV sequencing to meet diagnostic needs of children with DD/ID by identifying medically relevant gene variants that are either causal for DD/ID or other incidental variants that are predictive for other diseases. 

This project plans to return genomic results to patients and parents by a medical geneticist and genetics counselor. Questionnaires and interviews will be used to evaluate the effect of returning genomic information on clinical care, family planning and other aspects that may be impacted due to making genomic information available.