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Genome BC Adds Support to Important Study Targeting Premature Cardiac Events

By May 24, 2017No Comments

Researchers investigating genetically predisposed or at-risk individuals and their families affected by early onset cardiovascular disease (CVD), have received an additional $400K in funding from Genome BC and the Providence Health Care Research Institute (PCHRI) to continue this important work.

The study, called SAVE BC (Study to Avoid cardioVascular Events in British Columbia) is aimed at identifying and closely observing patients with extremely premature CVD over an extended period of time, including their first-degree relatives who are also at increased risk. An alarming fact is that close relatives of individuals diagnosed with premature CVD are up to 10x more likely to develop the condition as well.

Although Provincial guidelines for prevention of CVD recommend screening first-degree blood relatives of those individuals diagnosed with premature CVD, processes for identifying these family members in BC are lacking. As a result, screening occurs infrequently.

“Our long-term goal is to gain a better understanding of the genetic risks factors in these families.” said Dr. Liam Brunham, physician in the St. Paul’s Hospital Healthy Heart Program, scientist at the Centre for Heart Lung Innovation (HLI) and Assistant Professor in the University of British Columbia, (UBC) Department of Medicine. “This knowledge is essential to develop and implement strategies for reducing risk in these individuals and providing genetic counselling regarding the familial risk of this disease.”

CVD continues to rank among the leading causes of disability and death in North America. It’s debilitating and often fatal complications occur most frequently in older men and women. However there is small, younger segment of the population (below 50 years), who are diagnosed with premature CVD each year. The condition is considered highly hereditary, especially when it occurs at a young age. Youth, coupled with the asymptomatic nature of the condition makes it challenging to identify those at risk before a cardiac event occurs.

“Approximately 500-1,000 very young men and women have heart attacks in BC each year,” said Dr. Simon Pimstone, Clinical Associate Professor, UBC Department of Medicine, Associate Investigator at the HLI and Physician at the UBC Hospital Cardiology Clinic. “We believe the SAVE BC program could significantly reduce the burden of premature CVD in BC, while discovering a great deal about the genetic causes of this disease. This has the potential to yield new diagnostic and treatment opportunities.”

“There is an important knowledge and delivery gap for healthcare organizations looking for best practices to identify, engage, and deliver care for these high risk patient and their families.” said Dr. Catalina Lopez-Correa, Chief Scientific Officer and VP, Sectors at Genome BC. “Save BC is working to fill this gap by integrating advanced genomics and data science into the clinical setting, all while developing a much needed structured provincial screening program for extremely premature CVD.”

The SAVE BC research program began in December 2015 through funding from VGH & UBC Hospital Foundation and St. Paul’s Foundation in addition to industry partners Amgen Inc., Merck & Co., Inc., Sanofi-Aventis Canada Inc., the Rx&D Health Research Foundation as well as the Heart and Stroke Foundation of BC & Yukon.

The $400,000 in funding announced today was provided through Genome BC’s User Partnership Program, in collaboration with PCHRI, is a clear recognition of the continued need to develop innovative, sustainable and patient-centered solutions to reduce the burden of premature CVD.