Data Entry Maintenance

Metadata Commons Identifier

HMC000046

Project Title

Clinical Utility of Using Genomic Data to Assess Cardiovascular Risk and Guide Lipid-lowering Therapy in Patients with High Risk of Premature Cardiovascular Disease

Project Description

Background: Cardiovascular disease (CVD) is a leading cause of death worldwide and the second leading cause of death in Canada. In adults < 55 years of age, CVD is a crucial public health concern because of the potential loss of lifetime productivity and increased lifetime healthcare use. In British Columbia, approximately 1000 patients < 55 years of age present with severe coronary artery disease each year. Premature CVD is highly heritable, and genetic predisposition to CVD and inherited dyslipidemias, such as familial hypercholesterolemia (FH), influences both presentation and course of the disease. Existing clinical calculators for CVD risk are highly dependent on age and underestimate cardiovascular risk in younger adults, and although family-based screening is recommended by expert guidelines, it occurs infrequently in clinical practice. This creates an important knowledge gap: what are the best practices to identify and treat high-risk patients and their families? Purpose: The purpose of this project is to establish the clinical utility of incorporating genomic data, including polygenic risk scores (PRS), and targeted testing for inherited dyslipidemias, in the identification and management of patients with premature CVD. Objectives: To do this, we will propose the following objectives: 1) Assess the impact of monogenic and polygenic FH on lipid target achievement and cardiovascular outcomes in patients with premature CVD receiving standard-of-care treatment. 2) Determine the predictive value of the genome-wide PRS for coronary artery disease (CAD) in the screening of first degree relatives (FDRs) of patients with premature CVD. Data provided by the Integrated Health Informatics Datalab (IHID) were linked with the data collected in SAVE BC, a longitudinal study of patients with angiographically-confirmed CAD with stenosis of ≥ 50% who presented at age of ≤ 50 for males and ≤ 55 for females and their FDRs. The cohort size was 280 patients with premature CVD and 117 FDRs who are continuously enrolled and attend study visits at St. Paul’s Hospital. Genome BC project: DIA002

Project Funder(s)

Genome British Columbia

Project Institution(s)

Centre for Heart Lung Innovation

Project Investigator(s)

Liam Brunham, Simon Pimstone

Data Access Request URL*

Keywords

polygenic risk scores, coronary artery disease, lipid targets, subclinical atherosclerosis, screening

Publication Link

Study Completed

Cohort Name

Save BC

Cohort Size

397

Disease/Condition Studied

coronary artery disease

Enrollment Time Window

2017-2023

Biobanking Consent Available

Medical History Available

Ethnicity Availability

Time Course

Patient Phenotypes

premature CAD

Patient Outcomes

Index: achievement of lipid targets. FDR: presence of subclinical coronary atherosclerosis

Clinical Data Types Available

medical history, family history, lipid panels, coronary imaging

Time Course Data Points

One, two, and three years after presentation with premature CAD (Index sub-cohort)

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Project

Cohort

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Samples and Omics