Differences in the rate and yield of genetic testing in patients with brugada syndrome: A systematic review and analysis of cohort studies Chung CT, Bazoukis G, Matusik PT, Zaklyazminskaya E, Radford D, Rajan R, Liu T, Mok NS, Lee S, Tse G,

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Differences in the rate and yield of genetic testing in patients with brugada syndrome: A systematic review and analysis of cohort studies Cheuk To Chung¹, George Bazoukis², Paweł T Matusik³, Elena Zaklyazminskaya⁴, Danny Radford⁵, Rajesh Rajan⁶, Tong Liu⁷, Ngai Shing Mok⁸, Sharen Lee¹, Gary Tse⁹ ¹ Cardiac Electrophysiology Unit, Cardiovascular Analytics Group, Hong Kong, China-UK Collaboration, China ² Department of Basic and Clinical Sciences, University of Nicosia Medical School, Nicosia, Cyprus ³ Department of Electrocardiology, Institute of Cardiology, Jagiellonian University Medical College, John Paul II Hospital, Kraków, Poland ⁴ Russian National Research Center of Surgery Named After B.V. Petrovsky, Moscow, Russia ⁵ Department of Medical School, Kent and Medway Medical School, Canterbury, Kent, UK ⁶ Sabah Al Ahmad Cardiac Center, Amiri Hospital, Ministry of Health, Kuwait ⁷ Department of Cardiology, Tianjin Key Laboratory of Ionic-Molecular Function of Cardiovascular Disease, Tianjin Institute of Cardiology, Second Hospital of Tianjin Medical University, Tianjin, China ⁸ Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, China ⁹ Cardiac Electrophysiology Unit, Cardiovascular Analytics Group, Hong Kong, China-UK Collaboration; Department of Medical School, Kent and Medway Medical School, Canterbury, Kent, UK; Department of Cardiology, Tianjin Key Laboratory of Ionic-Molecular Function of Cardiovascular Disease, Tianjin Institute of Cardiology, Second Hospital of Tianjin Medical University, Tianjin, China Correspondence Address: Sharen Lee, Cardiac Electrophysiology Unit, Cardiovascular Analytics Group, Hong Kong China Source of Support: None, Conflict of Interest: None

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.

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