CIHR Team Grant : Improving Diagnosis for Rare Disease Patients

Well-being, Health and Biomedical Discovery


Academic Unit: inquire with unit

Memorial Deadline: Thursday 2nd, November 2023

External Deadline: Tuesday 7th, November 2023


In Canada, using current clinical diagnostic pathways, rare diseases (RDs) take an average of seven years to diagnose. This includes 2-3 misdiagnoses prior to the final correct diagnosis, with many specialist and subspecialist visits and much unnecessary testing. This diagnostic odyssey, along with social isolation, an absence of care coordination, and often high socioeconomic and mental health burdens, are frequently the norm for those living with RDs Compounding the situation is the fact that more than two thirds of RDs have a pediatric onset.

The majority (>80%) of RDs are disorders caused by single-gene mutations. Advances in genomics have increased the number of RDs that can be identified, from 500 five years ago1 to over 5,500 of the 7,000 known genetic RDs at present2 with this number rapidly increasing. Although genomics as a diagnostic tool for RDs has emerged in the past few years as an option, it is often the last diagnostic test ordered once all other traditional possibilities have been exhausted. Nonetheless, there are inherent expected advantages to using genomics to diagnose RDs earlier in the care pathway. Using genomics early on is expected to reduce the time to diagnosis to 6 months, and consequently, significantly reduce the existing cost associated with the current “diagnosis odyssey”. In addition, genomics would not only facilitate increased precision of the diagnosis but could also potentially decrease the indirect socioeconomic and psychological impact on patients with RDs and their families. For instance, early diagnosis would enable access to therapies earlier in life, many of which could prevent lifelong disability (e.g., mental impairment). Importantly, not all RD therapies are expensive, and many can have life-changing consequences – if diagnosed in time.


This funding opportunity will support research that will determine the best pathway to diagnose RDs by moving genomic testing towards the front end of the care pathway, taking into consideration optimal integration in clinical care, ethical legal and social aspects, and resources required to support this integration. To achieve this goal, research will generate evidence that allows adequate assessment of the clinical effectiveness, economic feasibility and effects on the socioeconomic and psychological wellbeing of patients, caregivers, and family members.

See ResearchNet for further information.

Funding Sources

Canadian Institute of Health Research (CIHR)

This opportunity was posted by: RGCS

Last modified: September 11, 2023