Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic diseases, and increasing uptake amongst patients has contributed to a vastly improved knowledge of the genetic basis of these diseases. The incredible advances in genetic technologies have translated to faster, more comprehensive, and inexpensive commercial genetic tests and has completely changed the landscape of commercial genetic testing in recent years. While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated. In almost all cases, the single greatest utility is for the predictive genetic testing of family members. This review will describe the value of cardiac genetic testing in the current climate of rapid genetic advancements.
Major advances have been made over the last 25 years that have defined the genetic basis of many medical diseases. There are now over 40 different cardiovascular diseases directly caused by mutations in genes that encode cardiac proteins. These cardiovascular diseases include the inherited cardiomyopathies, primary arrhythmogenic diseases, metabolic disorders, and the congenital heart diseases. Identification of the genetic causes of cardiovascular disease has led to improved and earlier diagnosis of at-risk individuals, and in some cases, is helping to guide therapies as well as inform prognosis.
The explosion of new genetic testing technologies has heralded a rapid advancement in commercial genetic tests on offer, now often comprising panels of genes (from 50 to 100 or more genes) with short turn-around times and decreasing costs. The utility of genetic testing in the cardiac setting has been comprehensively shown and is based primarily around the ability to perform predictive genetic testing in at-risk family members . A positive gene result has the potential to identify asymptomatic gene carriers at the earliest preclinical stages of disease development, while a negative gene result will provide reassurance and eliminate years of unnecessary clinical surveillance. There are a number of clinical, lifestyle, ethical, and psychosocial implications of genetic testing for cardiac conditions. While there are no doubt challenges, negotiating these obstacles is paramount if we are to fully realize the potential benefits genetic medicine has to offer.
This review will seek to highlight the utility of cardiac genetic testing including a practical discussion about the current challenges we face, with a specific focus on inherited cardiomyopathies and primary arrhythmogenic diseases.
Trends Cardiovasc Med 2014, 24(6) 217-224 IF: 2.074