An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community...

Area of Science:

• Cardiovascular Genetics
• Metabolic Disorders
• Genomic Medicine

Background:

• Cardiometabolic disorders pose a significant health burden, particularly in diverse populations.
• Genetic testing offers potential for personalized risk assessment and management.
• Limited data exists on implementing genetic testing in community settings for Hispanic populations.

Purpose of the Study:

• To implement and evaluate cardiometabolic genetic testing in a community setting with a predominantly Hispanic population.
• To assess the feasibility and patient perspectives regarding genetic testing for cardiometabolic conditions.
• To identify genetic risk factors for monogenic diseases, pharmacogenomic insights, and polygenic risk scores.

Main Methods:

• Genome sequencing (GS)-based genetic panel for cardiometabolic disorders deployed in community clinics.
• Included 177 genes for monogenic conditions, LPA risk alleles, pharmacogenomic (PGx) loci, and polygenic risk scores (PRS) for type 2 diabetes (T2D) and coronary artery disease (CAD).
• A survey assessed patient perceptions after results were returned.

Main Results:

• 776 patients (92% Hispanic) completed testing.
• 3.4% identified with pathogenic/likely pathogenic variants in monogenic disease genes (diagnostic and secondary findings).
• Significant proportions identified with LPA risk alleles (37.5%), PGx findings (23.3%), and elevated PRS (38.4%).

Conclusions:

• Cardiometabolic genetic testing is feasible and beneficial in a community setting for a predominantly Hispanic population.
• Testing provides actionable guidance for diagnosis, intervention, and preventative care.
• Patients reported favorable perceptions and perceived benefits from the genetic testing.