Differences in the rate and yield of genetic testing in patients with brugada syndrome: A systematic review and analysis of cohort studies

Abstract

Background: Genetic testing is used for the diagnosis and risk stratification of Brugada syndrome (BrS), but few studies have systematically evaluated regional differences and variations of its use worldwide. This study investigated the rates and yields of genetic testing reported by various BrS cohorts. Methods: PubMed was searched systematically for cohort studies on BrS patients between January 2002 and April 2022. Results: Of the 60 studies identified, 20 studies contained relevant information. In total, the rate of genetic testing is 59.4% with a yield of 26.3%. The highest rate of genetic testing of 100% was achieved by some centers in China, Japan, France, and Spain, while the lowest rate of genetic testing of 10% was observed in Hong Kong, China. The highest yield of 67% was reported in a Belgium center, while the lowest yield of 10% was reported by centers from Japan. Conclusions: Together this study highlights the variations in both the percentage of patients undergoing genetic testing and its percentage yield.