Genetic testing in cardiovascular medicine: current landscape and future horizons. Sturm Amy C,Hershberger Ray E Current opinion in cardiology PURPOSE OF REVIEW:The number of clinically available genetic tests for heritable cardiovascular diseases has recently increased because of novel gene discoveries and advancements in DNA sequencing technologies. The purpose of this review is to provide up-to-date genetic testing information and guidance on how to incorporate genetic testing into cardiovascular medicine. RECENT FINDINGS:Heritable cardiovascular conditions display vast genetic heterogeneity, genetic overlap between phenotypes, incomplete penetrance and variable expressivity, and are associated with risk for sudden cardiac death, making the practice of cardiovascular genetic medicine a great responsibility. Multigene testing panels now exist for many cardiovascular conditions, and test utility has recently been augmented by population-based genomic sequence datasets. Large amounts of DNA sequence data necessitate rigorous interpretation of this probabilistic information. Timely practice guidelines and expert statements have been published. SUMMARY:To fully realize the benefits of clinical genetic testing in cardiovascular medicine, clinicians must implement several components including judicious genetic testing, pretest and posttest genetic counseling, interpretation and application of genetic test results, and cascade family genetic testing and clinical screening. Components important to the proper integration of cardiovascular genetic medicine are offered. 10.1097/HCO.0b013e32835fb728

The role of genetic testing in epilepsy diagnosis and management. Weber Yvonne G,Biskup Saskia,Helbig Katherine L,Von Spiczak Sarah,Lerche Holger Expert review of molecular diagnostics INTRODUCTION:Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing. Moreover, it discusses ethical and legal guidelines, costs and technical limitations which should be considered. Expert commentary: Genetic testing is an important component in the diagnosis and treatment of many forms of epilepsy. 10.1080/14737159.2017.1335598