When do athletes benefit from cardiac genetic testing?

Abstract

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 …