Researchers bringing genetic testing to Calgary Stroke Unit

University of Calgary researchers are embarking on a project with the potential to improve outcomes for thousands of stroke patients. 

A collaborative team, co-led by principal investigators Dr. Michael Hill, MD and Dr. Chad Bousman, is bringing genetic testing to the clinic to help determine the best first-defense medication to treat first-time stroke patients.  

The study, which will involve about 225 local patients, is being funded by the Libin Cardiovascular Institute’s Michael and Terry Wilson Cardiovascular Research Innovation Fund. It was designed to complement a similar effort taking place in Toronto, allowing for inter-provincial comparison. 

According to Hill, about 7,000 Albertans suffer from a stroke each year. Canadian guidelines recommend clopidogrel, a medication used to prevent blood clots, be used for the first month following a minor ischemic stroke. 

However, some people don’t respond to this medication because certain genetic variants alter the way they metabolize the medication. There are other medications for treating these individuals, but previously there was no quick way of knowing which patients have these variants. 

“Not being able to test which patients won’t respond to clopidogrel puts them at risk of having another stroke,” says Hill. 

That’s where this study, which will investigate how to implement testing in a clinical setting, comes in. 

Researchers will collect a simple cheek swab from study participants and test it for the genetic variants using a special device—measuring just four inches by four inches—called the Genomadix Cube. The device provides results in about an hour, leaving physicians with plenty of time to prescribe the best medication for each individual.

During the pilot program, researchers will test 225 first-time stroke patients over the course of a year in the Stroke Unit at the Foothills Medical Centre. Scientists already know the genetic testing using the Genomadix Cube is effective, so this study aims to test the feasibility of using it in a clinical environment. 

Hill is hopeful the project will lead to the technology being implemented widely in Alberta. 

“There aren’t many opportunities in medicine where genetic testing is relevant to acute decision-making,” says Hill. “Our hope is that we can influence clinical practice.”  

Dr. Chad Bousman, PhD, a genetic researcher, is hopeful that this study will pave the way for other point-of-care pharmacogenetic testing, which looks at the efficacy and tolerability of drugs based on genetics, in the future. 

For him, this study is a no-brainer particularly given that one-third of Albertans may be impacted. 

“We think thousands of Albertans have these genetic variants,” says Bousman. “The test is inexpensive and only has to be administered once, so using it in the clinic just makes sense.” 

If the pilot proves clinical implementation is possible, the research team hopes the test can be brought to clinics around the province. The outcomes may also have relevance for cardiac patients as the same medication is used following a heart attack and in other cardiovascular conditions. 

Several other researchers are involved in the project, including Dr. Jennifer Terpstra, PhD, an implementation scientist, Dr. Mark Boulos, MD, a stroke expert, Dr. Adrian Box, MD, PhD, whose expertise is in molecular pathology, and Meagan Shields, a PhD student and pharmacist. 

Dr. Michael Hill, MD, is a neurologist at the Foothills Medical Centre and a professor in the Cumming School of Medicine’s departments of Clinical Neurosciences, Radiology, Medicine, and Community Health Sciences and a member of the Hotchkiss Brain Institute, the Libin Cardiovascular Institute of Alberta and the O’Brien Institute for Public Health at the University of Calgary. 

Dr. Chad Bousman is an associate professor in the Cumming School of Medicine’s Dept. of Medical Genetics. He is a member of the Libin Cardiovascular Institute, the Hotchkiss Brain Institute and the Alberta Children’s Health Research Institute.