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

This study aimed to apply cardiometabolic genetic testing in a community setting with a predominantly Hispanic population and assess feasibility and perspectives toward genetic testing.

A genome-sequencing-based genetic panel for cardiometabolic disorders (177 genes related to monogenic conditions, 2 LPA risk alleles, 2 pharmacogenomic loci, and ancestry-adjusted polygenic risk scores for type 2 diabetes and coronary artery disease) was deployed in community cardiology and endocrinology clinics in South Texas. A survey on perceptions toward genetic testing was administered after return of results.

Testing was completed for 776 patients (18-92 years old, 92% Hispanic). 26 patients (3.4%) were identified with a pathogenic or likely pathogenic variant in a monogenic disease gene, including 17 diagnostic and 9 secondary findings. Additionally, 291 (37.5%), 181 (23.3%), and 298 (38.4%) patients were identified with at least 1 LPA risk allele, pharmacogenomic finding, or elevated polygenic risk scores, respectively. Patients perceived the testing to be beneficial with few concerns.

This study expanded cardiometabolic genetic testing to a predominantly Hispanic population in a community setting, providing actionable guidance for disease diagnosis, intervention, and preventive care with a favorable patient perception.