The Canadian Institutes of Health Research (CIHR) has awarded multiple grants under its Rare Disease Research Initiative. CRDN congratulates the three recipients of the Improving Diagnosis for Rare Disease Patients Team Grant:
- Dr. Kym M. Boycott – Children’s Hospital of Eastern Ontario (CHEO) Research Institute in Ottawa for the project “A Canadian knowledge-to-action roadmap for evidence-informed implementation of first-tier clinical genome-wide sequencing for rare disease (K2A-RD).”
- Dr. Gregory Costain – The Hospital for Sick Children (SickKids) in Toronto for the project “TRIAGE-GS: a randomized controlled trial of a genomics-first approach to rare disease diagnosis.”
- Dr. Paula D. James – Queen’s University in Kingston for the project “Early genomic testing for inherited bleeding disorders in patients without a diagnosis after first-line testing: a randomized controlled trial.”
It takes on average seven years for a patient to receive a diagnosis for a rare disease (RD). By prioritizing genomics, these teams aim to determine the most efficient pathway to diagnosis, improving the health and well-being of those affected by a RD. Each team will receive $1.375 million over three years to improve the RD diagnosis process in Canada.
CRDN is thrilled to see many of our members leading these important projects. Collaborative, transdisciplinary efforts like these highlight the strength and unity of Canada’s RD research community. We are excited to witness the impact this work will have and look forward to supporting all grant teams as they strive to improve diagnosis and create more effective care pathways for RD patients.
Below are further details of their groundbreaking projects:
A Canadian knowledge-to-action roadmap for evidence-informed implementation of first-tier clinical genome-wide sequencing for rare disease (K2A-RD)
This project led by Dr. Kym M. Boycott (Children’s Hospital of Eastern Ontario), Dr. Oana Caluseriu (University of Alberta), and Dr. Taila Hartley (Children’s Hospital of Eastern Ontario) will unite a diverse group of researchers to change the way we diagnose RD in Canada. The mission is to develop a roadmap and toolkit for integrating genomic sequencing – a comprehensive genetic test – into healthcare systems across Canada. Their research will produce new knowledge and interpret current evidence to ensure that genomic sequencing becomes a standard part of early diagnosis within the clinical care pathway for RD by:
- Defining which types of patients with RD would benefit from this test being offered first.
- Identifying challenges, opportunities, and strategies to integrate this test into the healthcare system.
- Developing guidance documents, standards, and educational modules to integrate this test into the healthcare system.
The team will use a variety of methods, including studies to measure the impact of genomic sequencing when offered earlier, literature reviews, interviews, consensus-building techniques, and workshops. Their goal is to create practical tools and guidance for provincial health systems, ultimately improving the diagnosis and treatment of RD across Canada.
TRIAGE-GS: a randomized controlled trial of a genomics-first approach to rare disease diagnosis
This project, led by Dr. Gregory Costain (The Hospital for Sick Children), Dr. Raymond Kim (Ontario Hereditary Cancer Research Network), Dr. Oana Caluseriu (University of Alberta) and Dr. Kym M. Boycott (Children’s Hospital of Eastern Ontario) will determine if performing genome sequencing as soon as a rare genetic disease is suspected is more effective than usual care. This “genome sequencing first” approach could lead to quicker diagnoses, better care, and a smoother experience for everyone involved. The project will focus on:
- Speed and Accuracy: Evaluating if there are more and faster diagnoses.
- Satisfaction and Cost: Assessing patient, family, and care team with the process, and the financial impact on the healthcare system.
The findings are expected to improve care pathways for RD diagnosis in Canada and help bring new genetic technologies into everyday medical practice.
Early genomic testing for inherited bleeding disorders in patients without a diagnosis after first-line testing: a randomized controlled trial
This project, led by Dr. Paula D. James (Queen’s University), Dr. Jennifer Leung (Queen’s University), Dr. David P. Lillicrap (Queen’s University), and Dr. Michelle Sholzberg (St. Michael’s Hospital) will introduce a new early genetic testing pathway to diagnose inherited bleeding disorders more quickly and accurately. Their research will focus on:
- Effectiveness: Evaluating if the new pathway can diagnose more patients more quickly.
- Impact: Determining if it reduces socioeconomic and psychological burdens for patients and cuts overall costs to the healthcare system.
By diagnosing these disorders earlier and more accurately, patients can receive the right treatment sooner, preventing abnormal bleeding symptoms and improving their quality of life and mental well-being.