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. 聽
That鈥檚 why on聽Monday (Oct. 26), William Amos, Parliamentary Secretary (Science) on behalf of聽The Honourable Navdeep Bains,聽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. 聽
鈥淎s the health and safety of Canadians remains the government鈥檚 top priority, the COVID-19 pandemic has illustrated the continued importance of investing in science and research,鈥� said Minister Bains in a news release. 鈥淚 would like to extend my congratulations and gratitude to today鈥檚 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鈥� health and day-to-day lives.鈥澛� 聽
A AV俱乐部/IWK Health Centre collaboration
One of these projects is being led by four researchers with ties to both AV俱乐部 and the IWK Health Centre.
The project, Implementation of Clinical Exomes in a Pre-and Peri-Natal Setting, received $4.8聽million in funding.听The team includes Dr. Karen Bedard聽(Associate Professor, Department of Pathology at AV俱乐部, and Department of Pathology and Immunology, IWK Health Centre);聽Dr. Anthony聽Vandersteen聽(Department of Pediatrics, IWK Health and AV俱乐部); Dr.听Jo Ann Brock聽(Division Head, Pathology and Laboratory Medicine, IWK Health and Associate Professor, Department of Pathology); and聽Dr.听Sarah聽Dyack聽(Division Head, Medical Genetics, IWK Health and AV俱乐部).
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.
鈥淲e鈥檙e 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,鈥� says Dr. Bedard.鈥�
鈥淭he 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,鈥� adds Bedard.鈥�淚t 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.鈥�
National scale
It鈥檚 part of Genome Canada鈥檚聽, 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.
鈥淭his talented group of researchers is making a big difference in the lives of children with rare genetic diseases,鈥� says Dr. Alice Aiken, Vice President Research and Innovation at AV俱乐部. 鈥淭heir critically-important work will go a long way in speeding up the receipt of medical diagnoses, and ultimately will improve patient care significantly.鈥�
To learn more, visit the .听
This project also received funding from the IWK Health Centre, Research Nova Scotia, and AV俱乐部 Medical Research Foundation, and is supported by various industry partners.