Next-generation sequencing entering the clinical arena

Over the last decade the genetic etiology of many heritable diseases could be resolved. For heart muscle diseases, so called cardiomyopathies, mutations in more than 40 different genes have been identified. Due to this large genetic heterogeneity and missing of adequate gene-diagnostic tools, most patients are not genetically characterized, which would be important for individualized patient care.Currently, next-generation sequencing technologies are revolutionizing genetic and epigenetic research, since they are capable to produce billions of bases of sequence information in a single experiment. Accordingly, this powerful technology can now also open avenues for genetic diagnostics. The scope of this article is to illustrate technical approaches, clinical applications, and yet unsolved problems of next-generation sequencing entering the clinical arena.

► Cardiomyopathies are multigenic diseases that require novel gene-diagnostic tools.
► Next-generation sequencing (NGS) allows the analysis of gigabases in parallel.
► Targeted NGS enables physicians to make a comprehensive genetic diagnosis.