~Genetic disorders are the leading cause of death in newborns
~Currently, genetic disorders are under diagnosed in newborns and diagnosis is delayed
~Timely diagnosis of genetic disease in newborns changes treatment, improves outcomes, and saves money
The primary goal of the UW Rapid Genomic Analysis Program is to improve the diagnosis and treatment of critically ill Wisconsin children with genetic disorders. The Program will serve as the lead project for building a statewide network that will provide rapid diagnosis of critically ill newborns and children. It also will generate new opportunities for discovering disease genes and understanding molecular pathology of genetic disorders.
The UW Rapid Genomic Analysis Program is a collaborative effort that involves the Center for Human Genomics and Precision Medicine, the UW Divisions of Neonatology and Medical Genetics, the Wisconsin State Laboratory of Hygiene, and the UW Department of Pathology and Laboratory Medicine. Patients will be drawn from the American Family Children’s Hospital and Meriter Hospital NICUs. The project integrates current best clinical practices into a multidisciplinary team-based workflow designed to identify and recruit eligible patients and then obtain and return actionable clinical sequence data within a 7-day window, to maximize clinical utility/action ability.
While the focus is on diagnosis of known disorders, we expect that the UW Rapid Genomic Analysis Program will contribute to the discovery of novel disease genes. The project will also serve as a testbed for trialing novel diagnostic techniques (e.g., RNA-Seq). Looking to the future, we are working with Children’s Hospital of Wisconsin geneticists to create a statewide network for rapid NICU sequencing that will serve all 17 Wisconsin NICUs.
Questions about this Program? Contact: April Hall, Genetics Counselor at the UW Rapid Genomic Analysis Program