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

Future Perspective

Over the next years, we expect the clinical use of NGS to expand considerably. The outstanding improvement in throughput and the concomitant drop in costs are rapidly driving NGS from the research scene into the clinical arena. We expect target enrichment NGS to become a routine clinical diagnostic tool for a multitude of inherited diseases. For genetically more complex diseases, the implementation of whole-exome and whole-genome sequencing will require further efforts to overcome challenges in bioinformatics infrastructure and analysis methods. Despite all challenges and unanswered questions, it is hard not to be optimistic about the future of personalized genetic sequencing and its prospective impact on patient care management.