Targeted Next-Generation Sequencing: The Clinician's Stethoscope for Genetic Disorders

Jan Haas; Ioana Barb; Hugo A Katus; Benjamin Meder


Personalized Medicine. 2014;11(6):581-592. 

In This Article


Inherited cardiac diseases, such as channelopathies and cardiomyopathies put young individuals at risk for sudden cardiac death, embolism and heart failure.[1,2] Knowing the exact causative mutation of a cardiac disease helps confirming the diagnosis, guide the treatment and estimate prognosis for affected individuals.[3] Identifying the underlying mutation in a patient suffering from an inherited cardiac disorder is also crucial for the effective screening of relatives, who can either benefit from the appropriate cardiac care even before they become symptomatic or they can be reliably identified as unaffected.[2] Ever since the first cardiomyopathy causing mutation was identified in 1990,[4] the field of cardiac genetic biomarkers has expanded rapidly, leading to the discovery of over 90 disease genes coding for a broad range of proteins involved in different cellular pathways.[5] This genetic heterogeneity makes it almost impossible to perform comprehensive genetic testing using Sanger sequencing, underlining the need for new technical solutions.