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.  

That’s why on Monday (Oct. 26), William Amos, Parliamentary Secretary (Science) on behalf of The Honourable Navdeep Bains, Minister of Innovation, Science and Industry, announced $16 million in federal support to 10 genomics research projects funded through Genome Canada.

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.  

“As the health and safety of Canadians remains the government’s top priority, the COVID-19 pandemic has illustrated the continued importance of investing in science and research,” said Minister Bains in a news release. “I would like to extend my congratulations and gratitude to today’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 Canadians’ health and day-to-day lives.”   

A Dalhousie/IWK Health Centre collaboration

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

The project, Implementation of Clinical Exomes in a Pre-and Peri-Natal Setting, received $4.8 million in funding. The team includes Dr. Karen Bedard (Associate Professor, Department of Pathology at Dalhousie, and Department of Pathology and Immunology, IWK Health Centre); Dr. Anthony Vandersteen (Department of Pediatrics, IWK Health and Dalhousie); Dr. Jo Ann Brock (Division Head, Pathology and Laboratory Medicine, IWK Health and Associate Professor, Department of Pathology); and Dr. Sarah Dyack (Division Head, Medical Genetics, IWK Health and Dalhousie University).

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.

“We’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,” says Dr. Bedard. 

“The 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,” adds Bedard. “It 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.”

National scale

It’s part of Genome Canada’s All for One initiative, 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.

“This talented group of researchers is making a big difference in the lives of children with rare genetic diseases,” says Dr. Alice Aiken, Vice President Research and Innovation at Dalhousie. “Their critically-important work will go a long way in speeding up the receipt of medical diagnoses, and ultimately will improve patient care significantly.”

To learn more, visit the Genome Canada website

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.


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