Cohort: Cardiovascular

This sequencing project will help accelerate diagnosis and intervention for patients at risk for cardiovascular disease, including underserved Indigenous communities.

Abstract: Cardiovascular disease (CVD) remains a leading cause of morbidity and mortality in Canada, yet our ability to accurately predict and mitigate risk is still imperfect. Current genetic assessments for CVD risk often lack applicability across diverse populations, as many were developed using data from predominantly European cohorts. This limitation excludes large segments of the population, particularly those from underrepresented groups. Compounding this issue, individuals in rural, remote and underserved areas face barriers to early diagnosis and assessment due to limited access to physicians, geographic challenges, and a lack of diagnostic imaging. As a result, these individuals often present with advanced disease, leading to poorer outcomes and significantly higher healthcare costs. Our project will address these critical gaps. By capturing data from diverse populations across British Columbia (BC) and Yukon, we will enrich genetic datasets and develop a more inclusive framework for CVD risk prediction. We will implement a regional strategy to improve access to cardiac imaging in under-resourced areas through the use of point-of-care ultrasound (POCUS) and leverage advanced artificial intelligence (AI) to build personalized risk stratification models. These models will be designed for deployment at the point of care (POC) in underserved communities, ensuring earlier diagnosis and intervention for patients who need it most. BC and Yukon are home to diverse populations and a higher proportion of Indigenous peoples than the Canadian average. Leveraging BC’s unique public-hospital-based cardiac imaging system and our team’s echocardiography (echo), genomics and AI expertise, we will integrate imaging, clinical and multi-omics data to determine CVD risk. We will collect comprehensive echo data, biospecimens, and clinical and lifestyle data at the time of routine, clinically-indicated cardiac imaging at 15 hospital-based echo labs in Vancouver Coastal (VCH), Fraser (FH), Interior (IH), Island (VIHA), and Northern Health (NH) Authorities in BC, which also serve Yukon. Our approach will generate a cohort of 8,000 diverse participants with cardiac indications, matched to detailed genotypic, phenotypic, exposomic data, and cardiac structure and function parameters. MOSAIC is built on partnerships with all health authorities in BC, outreach in Yukon, and key stakeholders at the BC Ministry of Health, HealthcareCAN, First Nations and Indigenous representatives, rural physicians, patients, and commercial partners. With a track record in echo, AI, genomics, POCUS implementation, rural care delivery, and Indigenous health initiatives, our team is well-positioned to lead this groundbreaking effort. By combining diverse datasets, advanced technology, and inclusive collaboration, the MOSAIC Initiative will improve access to cardiac care and create a scalable model for equitable personalized health innovation in Canada.