An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community setting.
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История · было → стало
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Yuan Bo, Abushamat Layla A, Pereira Stacey, Mulukutla Surya Narayan, Tietz Grace E, Venner Eric, Kalla Sara E, Lee Breanna, Muzny Donna, Metcalf Ginger, Murugan Mullai, Elsea Sarah H, Kadirvel Senkottuvelan, Li Lele, Stephen Joshi, Xu Shengfeng, Yi Victoria, Sulit Monica, Kovar Christie L, Walker Kimberly, Gingras Marie-Claude, Hu Jianhong, Yan Fei, Gerber Taeko, Korchina Viktoriya, Fordis C Michael, Gaba Ruchi, Changlani Mahesh, Silberman Herschl, Smith Hadley Stevens, Eng Christine M, Posey Jennifer E, Medina Clarisa, Treviño Lisa R, Ballantyne Christie M, Gibbs Richard A, Balasubramanyam Ashok
Аннотация
METHODS: 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.
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.
CONCLUSION: 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.