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sector_ico_Health_trans Human Health

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 Leaders: Liam Brunham, Simon Pimstone
  • Institutions: University of British Columbia (UBC)
  • Budget: $248764
  • Program/Competition: Data Access, Integration and Analysis Program
  • Genome Centre(s): Genome British Columbia
  • Fiscal Year: 2022
  • Status: Active

Preventive treatments for heart disease, which are aimed at reducing or eliminating risk factors, have shown to be effective in preventing heart disease altogether or decreasing the risk of disease recurrence in older populations. Yet rates of cardiovascular disease, such as heart attack or coronary heart disease, in adults under 55 years of age have not decreased over the past two decades. Current screening approaches are effective in identifying older individuals who are at high risk of heart disease and will benefit from preventive treatment; however these approaches do not perform as well in younger adults.

Risk of heart disease is strongly influenced by genetics, particularly when it occurs at a young age. Consequently, when an individual develops heart disease under the age of 55 years, their first-degree relatives (siblings, children and parents) are also at increased risk of developing heart disease. However, because all current risk assessment tools are highly dependent on age, many young adults remain undiagnosed and untreated.

Genetic predisposition influences not only initial development, but also the progression of disease and success of preventive treatment. Individuals with high genetic risk may be at higher risk of recurrent heart attacks despite receiving recommended treatment and may benefit from more intensive treatment or usage of stronger, newly developed medications.

The main objectives of this research are to:

1. Evaluate if genetic testing and screening via clinical imaging tools would be useful in finding individuals among the first-degree relatives of patients with early onset heart disease who are also at high risk of heart disease and who could benefit from preventive treatment.

2. Assess if genetic testing for familial hypercholesterolemia, an inherited disorder causing high elevation of blood lipids, can help to find individuals with poor response to standard guideline-recommended preventive therapy who may be at higher risk of re-current heart attacks.