This paper is to study the clinical characteristics of Brugada syndrome (BrS) in Chinese by analyzing clinical and ECG data of BrS patients. Data were included by computerized and manual research, and was analyzed by 2 doctors alone. The data of repetition and of non-Chinese were rejected. Forty-nine BrS patients were included (45 males and 4 females). Main manifestations included sudden death in 29 and syncope in 27 patients. Malignant ventricular arrhythmia (MVA) occurred in 14 of 17 patients with family history of sudden death or syncope and in 15 out of 32 ones without family history. Occurrence of MVA in 11 of 14 patients was within the period from 7pm to 7am. ECG revealed that sloped ST segment elevation appeared mainly in V1, V2 leads and coved ST segment elevation appeared mainly in V3 lead. BrS is not rare in Chinese people,and its clinical characteristics is similar to that overseas data.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.