sector_ico_Health_trans Human Health

Mainstreaming Genetic Testing for Non-Ischemic Cardiomyopathy in Western Canada: A Family Centred and Genome-First Approach to a Common and Life-Threatening Cardiomyopathy

HOI030
  • Project Leaders: Thomas Roston, Omid Kiamanesh
  • Institutions: University of British Columbia (UBC)
  • Budget: $699392
  • Program/Competition: Healthy Outcomes through Genomic Innovations (HOGI)
  • Genome Centre(s): Genome British Columbia
  • Fiscal Year: 2025
  • Status: Active

Heart muscle disorders are a leading cause of heart failure, a life-threatening condition that can lead to dangerous abnormal heart rhythms (arrhythmia) and fluid buildup in the body (edema). In British Columbia and Alberta, patients with heart failure receive specialized care in Heart Function Clinics (HFCs), where early diagnosis and treatment can prevent severe complications, disability and death.

In some cases, particularly in younger patients, heart failure is caused by inherited genetic abnormalities in the heart muscle. These conditions can be identified through a simple blood or saliva test, allowing for more precise treatment and the early diagnosis of at-risk family members. However, in B.C. and Alberta, genetic testing for heart failure is only available through highly specialized programs, which require referrals and often have wait times of up to three years. As a result, many HFCs are unaware of these tests, or hesitant to refer patients due to these significant delays.

This project aims to integrate genetic testing directly into HFCs, enabling cardiologists to order genetic tests for their patients without the need for specialized referrals. By equipping HFC providers with the knowledge and resources to implement genetic testing, patients can receive faster diagnoses and earlier treatment. Additionally, at-risk family members will be identified more quickly, allowing for preventive care that could reduce the risk of severe heart failure and sudden cardiac events.

Beyond improving individual patient care, the project will generate evidence to support broader healthcare system changes. By demonstrating the benefits of integrating genetic testing into HFCs, the findings will help inform healthcare leaders and policymakers about the need for expanded access to genetic testing.