当前位置: X-MOL 学术Br. J. Sports Med. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
When do athletes benefit from cardiac genetic testing?
British Journal of Sports Medicine ( IF 11.6 ) Pub Date : 2020-03-27 , DOI: 10.1136/bjsports-2020-101985
Christopher Semsarian 1, 2, 3 , Jessica Orchard 2 , Belinda Gray 2, 3 , John Orchard 2
Affiliation  

Genetic testing has had a major impact in many areas of medicine, including sports cardiology. Here we discuss cardiac genetic testing not as a screening tool but rather as an evidence-based follow-up test in an athlete with an abnormal ECG or medical history to identify those athletes who have a potentially life-threatening cardiac genetic disorder. Cardiac genetic testing is a valuable investigation for the diagnosis of over 40 cardiovascular diseases including the inherited cardiomyopathies and primary arrhythmogenic disorders. A positive genetic diagnosis can impact on the individual in terms of diagnosis, guiding treatment options and prognosis, as well as in screening family members. Advances in next generation sequencing technologies has resulted in the ability to test for panels of genes, quickly and at relatively low cost, making cardiac genetic testing more commonplace in clinical practice. Perhaps the greatest challenge is not the actual sequencing of cardiac genes but the detailed and comprehensive analysis and interpretation of the genetic data to determine the pathogenicity of the DNA variants identified and which of the findings are clinically relevant to the individual’s phenotype.1 As a result, cardiac genetic testing is best undertaken in a specialised multidisciplinary clinic setting where specific clinical and genetic expertise is available.2 3 In Australia and the UK, a referral to a specified cardiogenetics programme typically comes from a general cardiologist. These clinics are found in a number of …

中文翻译:

运动员何时受益于心脏基因检测?

基因检测对许多医学领域产生了重大影响,包括运动心脏病学。在这里,我们讨论的心脏基因检测不是作为一种筛查工具,而是作为对心电图或病史异常的运动员的循证随访测试,以识别那些患有可能危及生命的心脏遗传疾病的运动员。心脏基因检测是诊断 40 多种心血管疾病(包括遗传性心肌病和原发性心律失常疾病)的一项有价值的研究。阳性基因诊断可以在诊断、指导治疗选择和预后以及筛查家庭成员方面对个体产生影响。下一代测序技术的进步使得能够以相对较低的成本快速测试基因组,使心脏基因检测在临床实践中更加普遍。也许最大的挑战不是心脏基因的实际测序,而是对遗传数据进行详细和全面的分析和解释,以确定所鉴定的 DNA 变异的致病性,以及哪些发现与个体的表型在临床上相关。 1 结果, 心脏基因检测最好在具备特定临床和遗传专业知识的多学科专业诊所进行。2 3 在澳大利亚和英国,转诊到指定的心脏遗传学项目通常来自普通心脏病专家。这些诊所位于许多…… 也许最大的挑战不是心脏基因的实际测序,而是对遗传数据进行详细和全面的分析和解释,以确定所鉴定 DNA 变异的致病性,以及哪些发现与个体的表型在临床上相关。 1 结果, 心脏基因检测最好在具备特定临床和遗传专业知识的多学科专业诊所进行。2 3 在澳大利亚和英国,转诊到指定的心脏遗传学项目通常来自普通心脏病专家。这些诊所位于许多…… 也许最大的挑战不是心脏基因的实际测序,而是对遗传数据进行详细和全面的分析和解释,以确定所鉴定 DNA 变异的致病性,以及哪些发现与个体的表型在临床上相关。 1 结果, 心脏基因检测最好在具备特定临床和遗传专业知识的多学科专业诊所进行。2 3 在澳大利亚和英国,转诊到指定的心脏遗传学项目通常来自普通心脏病专家。这些诊所位于许多…… 心脏基因检测最好在具备特定临床和遗传专业知识的多学科专业诊所进行。2 3 在澳大利亚和英国,转诊至特定心脏遗传学项目通常来自普通心脏病专家。这些诊所位于许多…… 心脏基因检测最好在具备特定临床和遗传专业知识的多学科专业诊所进行。2 3 在澳大利亚和英国,转诊至特定心脏遗传学项目通常来自普通心脏病专家。这些诊所位于许多……
更新日期:2020-03-27
down
wechat
bug