Clinical Whole Genome Sequencing in Paediatrics

Title: Diagnostic and Predictive Uses of Clinical Whole Genome Sequencing in Paediatrics Speaker: Stephen Meyn MD PhD FRCPC, Senior Scientist, Program in Genetics and Genome Biology, The Hospital for Sick Children, Departments of Molecular Genetics and Paediatrics University of Toronto, Canada

Abstract: The transformative potential of whole genome sequencing (WGS) lies in its use in genomic medicine, where knowledge of an individual's genomic variants guides health care decisions throughout life, in order to anticipate, diagnose and manage disease. Dr. Meyn will review the challenges of implementing genomic medicine and describe the Hospital for Sick Children’s Genome Clinic, a multidisciplinary test bed that supports a wide range of research into the clinical uses of WGS, from development of new bioinformatics pipelines and counselling models to health economics and bioethics studies. Dr. Meyn also will present initial results from this research project that support the hypothesis that WGS can be superior to conventional multi-gene panels and clinical microarrays for identifying pathologic variants in children suspected of genetic disorders and demonstrate that a comprehensive search for secondary (incidental) variants can yield medically actionable variants in more than 30% of children.