LAUSR

ABSTRACT Introduction: The arrival of next-generation sequencing has brought about a revolution in genomic analysis of disease. One of the major bottlenecks delaying uptake of whole exome and whole genome analysis in the clinic is that of interpreting an individual’s genetic variants to discriminate the pathogenic from the benign, delaying diagnosis for patients and the development of personalized medicine. Areas covered: We will provide an overview of some issues causing the bottleneck and describe ways in which it is now, and in future could be, addressed. This includes increased data sharing, standardization of the variant interpretation process, integration of other ‘-omic’ data, and integrating the data already present in the clinic from phenotypic data and electronic health records to help with the interpretation process. Expert commentary: This article will provide examples of how some of these challenges are being met currently, and new initiatives that are being put in place to improve the speed of diagnosis of disease. It will also identify how this, combined with an understanding of how an individual’s genetics affect their physiology and response to external challenges, whether environmental or therapeutic, can lead to more personalized healthcare.