Current State of Genome Medicine in the World

Abstract

 Precision medicine using exome and whole-genome sequences has grown exponentially in the clinical setting, and many laboratories are putting sequencing into their portfolio of diagnostics. The cost of whole genome sequencing has come to be less than one thousand dollars per person, but in order to analyze it and interpret its clinical significance, it is necessary to process a huge amount of data quickly and accurately. This costs several times as much as the cost of the sequence itself. We will introduce some examples and explain the project of Genomics England, focusing on the leading facilities in the United States, such as clinical sequences using whole genome sequences. Various tools are being developed that create clinical report after analyzing whole genome information. In this paper, I will briefly introduce one of such tools developed by Fabric Genomics Inc., which was evaluated in the Genomics England project, and introduce the current state of clinical sequences.