Mark McCarthy

Title: What will the new sequencing technologies deliver for science and society?

The advent of genome wide association analysis has led to identification of many hundreds of loci influencing common diseases and traits, and many insights into disease pathogenesis. These advances have whetted the collective appetite for large-scale genetic discovery efforts, and seen the first attempts to deliver personalised genomic information. Second- and third-wave sequencing technologies promise much more of this, and it is no longer science fiction to imagine individual genome sequencing as a standard research and medical tool in the next decade or so. However, such fanciful visions have to be tempered against the current reality: as of 2009, whole genome sequence data remain expensive to obtain, lack sufficient accuracy for many purposes, and pose fearful analytical challenges. If we are to get from "here" to "there", a large number of obstacles (logistical, technical, analytical, financial, ethical, social) have to be addressed. My own research group is facing these challenges as we migrate from the relative security of genotypes to the brave new world of high-throughput sequence, and I will summarise some of our (and others') efforts in this respect.