IWK looks to genome sequencing to provide faster, more accurate results

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An IWK Health research study aims to improve the health of patients with rare genetic disorders and increase the efficiency of the health care they receive. The project, which involves implementation of clinical exomes in the setting of rare disease, will study the benefits of making genome wide sequencing standard care, both locally and across the country.

The $4.8 million project was announced today by the Honourable Navdeep Bains, Minister of Innovation, Science and Economic Development, as one of 6 projects awarded through Genome Canada’s All For One precision health initiative. The program is managed by Genome Atlantic. Dalhousie University is a major project partner alongside IWK Health. The project joins three other All For One projects that are currently operational in BC, Alberta and Quebec (announced on March 2, 2020).

Rare genetic disorders are not uncommon. They affect about one in 15 children in Canada and make up about 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.

Dr.Karen Bedard

Genome wide sequencing can be helpful in providing a diagnosis to 30 to 40 per cent of patients with undiagnosed genetic disorders.

The project is jointly led by IWK with receptor project leads Dr Jo-Ann Brock, molecular geneticist and Dr Sarah Dyack, clinical geneticist and by Dalhousie with academic project leads Dr Karen Bedard, molecular geneticist and Dr Anthony Vandersteen, clinical geneticist. The project aims to develop this technology locally, and assess the clinical use and cost effectiveness, with the anticipation of adopting this testing as standard of care for patient populations in Maritime Canada.

“Currently, testing often proceeds in a sequential manner, with the most likely causes explored first,” says Dr. Karen Bedard. “However, the cost, and importantly, the time to diagnosis quickly adds up if multiple tests are required. Collecting genome wide data up front and analyzing it sequentially is expected to reduce overall costs and give a complete answer faster.”

“It’s really hard for parents and families to not have answers for their child with a rare disease,” says Dr. Jo Ann Brock. “Discovering a genetic diagnosis might not only lead to improved care with fewer medical complications and potentially new treatments for their child, but also helps families understand what to expect and even to connect with other families.”