Grant: Team Grant: Improving Diagnosis for Rare Disease Patients

Canadians with rare disease (RD) can spend years trying to get a diagnosis, visiting many specialists and enduring futile testing. Genomic sequencing, which decodes a person's DNA looking for rare mutations that cause disease, is an excellent test for diagnosing RD. However, genomic sequencing is a very complex and expensive test. It can be difficult for Canadians to access genomic sequencing and it is often offered only after other tests have failed to provide an answer. While we know that it is better to offer this test earlier, we don't know which patients need this test offered first. Many provinces and territories lack specialized knowledge, skills, tools, and resources needed to perform genomic sequencing. Guidance and tools are needed for provincial health systems to integrate this test in a way that benefits Canadians with rare disease while using healthcare dollars wisely. We unite a diverse group of researchers, genetics experts, patients and families, and policy makers to develop a roadmap and toolkit for integrating genomic sequencing into healthcare systems across Canada. Our research will produce new knowledge and interpret current evidence to integrate genomic sequencing earlier in the clinical care pathway for rare disease: 1. Define which types of patients with RD would benefit from this test being offered first. 2. Identify challenges, opportunities, and strategies to integrate this test into the healthcare system. 3. Develop guidance documents, standards, and educational modules to integrate this test into the healthcare system. To do this work, we will conduct studies to measure the impact of genomic sequencing when offered earlier, literature reviews, interviews, consensus-building techniques, and workshops. We will bring an equity perspective to this research, so that our research benefits all Canadians with rare disease. Finally, we will partner with key stakeholders so that the evidence and tools we produce will be relevant and used.