Grant: Genomics and Personalized Health -Large-Scale Applied Genomics Res Projects

There are about 7,000 rare genetic diseases (RDs) that affect more than one million Canadians. RDs have a devastating impact on Canadians: two-thirds cause significant disability, threequarters affect children, more than half lead to early death, and almost all have no treatment. The cause of more than one-third of the 7000 RDs is currently unknown. Care4Rare Canada Consortium leads the world by using genomic sequencing (decoding a person’s DNA) to identify the genetic cause of RDs. However, more than one third of patients seen each year in Canada with a suspected RD remain undiagnosed and can spend years visiting specialists and undergoing unnecessary testing to explain their disease. Contributing to this gap in care is that genomic sequencing is not available as a clinical test anywhere in Canada. Thus, building on the success of Care4Rare, the goal of the C4R-SOLVE project is to identify the genetic cause for the remaining unsolved RDs while making genomic sequencing available as a clinical diagnostic test in Canada. To understand the remaining unsolved RDs, C4R-SOLVE will explore new sequencing technologies and improve data sharing world-wide, enabling the discovery of new causes of RDs. To improve access to clinical diagnostic testing, C4R-SOLVE will work with provincial ministries of health to determine the best way to include genomic sequencing as a clinical test to diagnose RDs. By achieving its goal, the C4R-SOLVE project will more than double our ability to diagnose this one third of RD patients, while building the infrastructure and tools needed to improve RD diagnosis around the world. An accurate diagnosis will benefit patients and their families as a genetic diagnosis leads to optimized care, improved family wellbeing, and new disease insights. Further, optimal delivery of clinical genomic sequencing has the potential save at least $28M per year, benefiting the Canadian healthcare system.