Genet Med. 2026 May 7:102595. doi: 10.1016/j.gim.2026.102595. Online ahead of print.
ABSTRACT
PURPOSE: This study aimed to apply cardiometabolic genetic testing in a community setting with a predominantly Hispanic population and assess feasibility and perspectives towards genetic testing.
METHODS: A genome sequencing (GS)-based genetic panel for cardiometabolic disorders (177 genes related to monogenic conditions, two LPA risk alleles, two pharmacogenomic (PGx) loci, and ancestry-adjusted polygenic risk scores (PRS) for type 2 diabetes (T2D) and coronary artery disease (CAD)) was deployed in community cardiology and endocrinology clinics in South Texas. A survey on perceptions towards genetic testing was administered after return of results.
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 nine secondary findings. Additionally, 291 (37.5%), 181 (23.3%), and 298 (38.4%) patients were identified with at least one LPA risk allele, PGx finding, or elevated PRS risk, respectively. Participants perceived the testing to be beneficial with few concerns.
CONCLUSION: This study expanded cardiometabolic genetic testing to a predominantly Hispanic population in a community setting, providing actionable guidance for disease diagnosis, intervention, and preventative care with a favorable patient perception.
PMID:42104850 | DOI:10.1016/j.gim.2026.102595