Inborn errors of metabolism (IEM) are genetic diseases caused by mutations in either the nuclear or mitochondrial genome. Although each of the more than 600 known IEMs is individually rare, together they affect more than 6,400 patients in the Prairies—primarily children. Throughout the Prairie provinces, there is a limited local capacity for next-generation sequencing causing delays which limit the benefits of early diagnosis, early treatment, and improved outcomes. These delays result in adverse outcomes in patients. This project will combine clinical and laboratory approaches to ensure patients have timely access to new diagnostics, new therapies, and clinical and specialty supports. The Canadian Prairie Metabolic Network (CPMN) will provide access to a full range of multidisciplinary expertise, develop best practice approaches, and provide, as needed, clinical specialist coverage for generalist physicians and their patients. It will also ensure the timely and more cost-effective delivery of innovative and relevant genomic testing in the Prairies, including rapid, inexpensive mitochondrial DNA testing not available elsewhere; generate genomics data that will stay in Canada; and contribute to knowledge and expertise in Canada across multiple disciplines and specialties. The result will be the timely treatment and improved outcomes for IEM patients.
Part of Genome Canada’s All for One initiative. This clinical implementation project will facilitate the uptake of genome-wide sequencing as a standard of care for rare diseases by the relevant ministries of health. It is funded as part of the All for One initiative, the goal of which is to improve the health and wellness of Canadians with serious genetic conditions by enabling access to a timely and accurate genomic-based diagnosis. Moreover, All for One will enable patients to benefit while helping others through the sharing of their clinical and genomic data within a learning health system. It lays a foundation for precision health in Canada.