June 4, 2018
Pilot initiative for rare diseases to lay the foundation for the adoption of precision health across Canada
Genomics-based precision health is transformational, promising to improve patient health and increase efficiency of health-care delivery. Today, Genome Canada launched a national initiative for the clinical implementation of precision health, focusing on a rare disease pilot program as a foundational step.
Patients with rare diseases could get significant improvement in the results of their health care by precision health approaches due to their unique genetic makeup and diagnosis challenges. This program promises every rare disease patient in Canada the opportunity for a diagnosis and hope for treatment. By establishing shared and effective policies, processes, techniques and technologies, it will also form the first step towards a national roll-out of precision health for all Canadians.
Genome Canada’s President and CEO, Mr. Marc LePage, made the announcement during a session at the BIO International Convention 2018 – a major annual conference for the biotechnology sector, being held in Boston, Massachusetts.
“Precision health built on genomics and other technologies promises the unprecedented ability for diagnostic precision and timeliness as well as the opportunity to discover new disease mechanisms and treatments. Our rare disease pilot initiative aims to directly help thousands of Canadian patients and their families, while laying the foundation for better health outcomes for all Canadians,” Mr. LePage said. “The launch of this strategy is a major step towards implementing precision health into Canada’s health-care system. We look forward to engaging patients, the provinces, health-care providers, and researchers in this exciting and important initiative,” he added.
Broadly, the national strategy/pilot initiative features three main components:
A national rare disease cohort is envisioned to be established through the collection and sequencing of 30,000 samples from rare disease patients and their families.
A national platform is being set up to provide mechanisms and best practices for the collection and sharing of data, including privacy policies, informed consent and other ethical and legal frameworks.
Clinical implementation will advance through working with provincial and regional centres and partners to establish clinical sites and achieve regulatory approval and accreditation.
Genome Canada has established an advisory committee (click to view members) comprised of renowned rare disease researchers, clinicians, patient advocates, policy and ethics experts and others, to guide the strategy and pilot program. We also continue to work with key partners including the Canadian Institutes of Health Research, the provinces, industry, patient groups and others in the formulation of the initiative and launch of program activities.
- Rare diseases are not uncommon. There are over 7,000 known rare diseases, with more being discovered each year. In Canada, eight per cent of Canadians are affected by a rare disease, mostly children.
- A quarter of rare disease patients wait 5 to 30 years for a diagnosis, 40 per cent are misdiagnosed and half never receive a confirmed diagnosis.
- Rare disease patients represent two per cent of total patients but 10 per cent of hospital costs.
- Canada is a world leader in rare disease research. Through several Canadian research projects, funded by Genome Canada and others, Canada is at the forefront of finding rare disease genes and accelerating diagnosis and treatment where possible.
- Genome Canada invests in genomic science and technology and its translation into applications across multiple sectors to produce social and economic benefits for Canadians.