pilipiliĀž»­

 

Researchers from Dalhousie and IWK Health Centre receive $4.8 million in funding from Genome Canada

- October 27, 2020

Dr. Karen Bedard, molecular geneticist and academic co-leader of a new $4.8 million project to speed up the diagnosis of rare diseases in children. (Provided photo)
Dr. Karen Bedard, molecular geneticist and academic co-leader of a new $4.8 million project to speed up the diagnosis of rare diseases in children. (Provided photo)

As Canada addresses ongoing challenges posed by the COVID-19 pandemic and charts a course for economic recovery, harnessing the game-changing potential of geonomics can deliver homegrown solutions and help protect and improve lives. Ā 

Thatā€™s why onĀ Monday (Oct. 26), William Amos, Parliamentary Secretary (Science) on behalf ofĀ The Honourable Navdeep Bains,Ā Minister of Innovation, Science and Industry, announced .

Provincial governments, businesses and research partners are also investing nearly $41 million in co-funding, for a total investment of almost $57 million in the areas of health, agriculture and the environment. Ā 

ā€œAs the health and safety of Canadians remains the governmentā€™s top priority, the COVID-19 pandemic has illustrated the continued importance of investing in science and research,ā€ said Minister Bains in a news release. ā€œI would like to extend my congratulations and gratitude to todayā€™s recipients who continue to work so tirelessly to improve the lives of Canadians. The Government of Canada is committed to supporting science and research, which has far-reaching impacts on Canadiansā€™ health and day-to-day lives.ā€Ā  Ā 

A Dalhousie/IWK Health Centre collaboration


One of these projects is being led by four researchers with ties to both pilipiliĀž»­ and the IWK Health Centre.

The project, Implementation of Clinical Exomes in a Pre-and Peri-Natal Setting, received $4.8Ā million in funding.ĢżThe team includes Dr. Karen BedardĀ (Associate Professor, Department of Pathology at pilipiliĀž»­, and Department of Pathology and Immunology, IWK Health Centre);Ā Dr. AnthonyĀ VandersteenĀ (Department of Pediatrics, IWK Health and Dalhousie); Dr.ĢżJo Ann BrockĀ (Division Head, Pathology and Laboratory Medicine, IWK Health and Associate Professor, Department of Pathology); andĀ Dr.ĢżSarahĀ DyackĀ (Division Head, Medical Genetics, IWK Health and pilipiliĀž»­).

Rare genetic disorders affect roughly 500,000 children in Canada and constitute 30 per cent of the pediatric inpatient population. These children often undergo lengthy and expensive diagnostic procedures and may be subject to uninformed care while waiting for a correct diagnosis. The introduction of genome wide sequencing as a diagnostic tool has been shown to be effective, with a diagnostic yield of 30-40 per cent for patients with undiagnosed genetic disorders.

However, adoption in to clinical practice has been slow due to insufficient evidence surround cost-savings;inconsistent description of patient phenotypic data;lack of integration of clinical and laboratory systems; data sharing difficulties; and concerns among patients about potentially significant incidental findings.

ā€œWeā€™re aiming to implement genome wide sequencing as a genetic testing strategy earlier in the diagnostic process for children with genetic conditions, in particular, for situations where there is a probability that a single targeted gene test will not be sufficient to provide a diagnosis,ā€ says Dr. Bedard.ā€Æ

ā€œThe project will evaluate a standardized system for collecting patient clinical data, which will then be used to help guide which patients will benefit most from genome wide sequencing strategies,ā€ adds Bedard.ā€Æā€œIt also includes an assessment of how performing this testing locally impacts the time it takes to obtain a diagnosis, the number and types of specialists patients see, and other measures of impacts on the family and healthcare system.ā€

National scale


Itā€™s part of Genome Canadaā€™sĀ , a pan-Canadian network of cutting-edge clinical geonomics centres that share knowledge and best practices to speed up medical diagnoses and improve patient care equitably across British Columbia, Alberta, Quebec, and now the Atlantic provinces.

ā€œThis talented group of researchers is making a big difference in the lives of children with rare genetic diseases,ā€ says Dr. Alice Aiken, Vice President Research and Innovation at pilipiliĀž»­. ā€œTheir critically-important work will go a long way in speeding up the receipt of medical diagnoses, and ultimately will improve patient care significantly.ā€

To learn more, visit the .Ģż

This project also received funding from the IWK Health Centre, Research Nova Scotia, and Dalhousie Medical Research Foundation, and is supported by various industry partners.