Applying Genomic Sequencing in Pediatrics

PediSeq seeks to bring genomic sequencing into pediatric clinical settings. This project studies the effects of whole exome sequencing (WES) and whole genome sequencing (WGS) in four conditions: intellectual disability, sudden cardiac arrest/death, hearing loss and mitochondrial disorders. PediSeq seeks to develop tools for identifying and consenting patients for study, carrying out and interpreting the sequencing data, and reporting useful information to patient families.

Additionally, PediSeq also aims to investigate how families react to "incidental findings" (genetic changes not related to primary diagnosis) and to identify educational materials that will be required to help families understand these results. This study allows researchers to work with families, scientists, and ethicists up front to determine how patients should be counseled and educated before testing, what data should be provided back to individual families, and what educational tools will help in understanding the implications of the testing.