I don’t think I’m exaggerating when I say that the ability to sequence a person’s genome for less than £750 will turn out to be one of the biggest breakthroughs in human medicine this century.  This one technology gives us an unprecedented ability to understand and diagnose genetic disease, and to enable personalised medicine and pharmacogenomics.

Today, the Universities of Edinburgh and Glasgow announce the purchase of 15 HiSeq X instruments, one of the largest installs in the world.  This tied together with Scotland and the UK’s world-leading super computing infrastructure, much of which is based at the University of Edinburgh, will make Scotland a global leader in clinical genomics.  in Edinburgh, the installation is backed by three world leading institutions, The Roslin Institute (my employer), the Institute for Genetics and Molecular Medicine and Edinburgh’s School of Biological Sciences.  The Edinburgh node will be placed within Edinburgh Genomics.

One nuance of this announcement that should not be underestimated is the fact that Scotland has excellent electronic national health records, representing a huge advantage.  As anyone working in genomics knows – in the land of cheap sequencing, the person with good metadata is king.

This announcement represents both the beginning and the end of two separate but related stories.  The first began at PAG XXII last year (it doesn’t escape me that I am writing this at PAGXXIII this year), when Illumina announced the HiSeq X system.  This morning I re-read a 3 hour e-mail conversation from January last year between Mark Blaxter (director of Edinburgh Genomics), Karim Gharbi (head of genomics), Richard Talbot (head of laboratory) and myself (head of bioinformatics).  As Illumina announced the HiSeq X system, we started off at confusion, moved swiftly to wonder and amazement, and ended with Mark asking “Do you think we need to invest in this technology?”.  He received 3 resounding answers: “Yes!”.  Three hours to decide we needed to push for a clinical genomics revolution in Scotland, driven by a HiSeq X Ten install.  The last year has seen some incredible hard work, not least from Mark Blaxter, Tim Aitman, David Hume and countless others.  A huge amount of respect has to go to all three, especially Mark who really began to drive these discussions at the start of last year.  No doubt countless others worked incredibly hard, and everyone involved deserves credit.

That’s the end of one story, and the the beginning of another – sequencing 1000s of human genomes from Scotland and beyond.  I am incredibly excited by what that represents.  One of my first jobs was at GlaxoWellcome in the 90s, and around 1996-98 I recall the buzz around pharmacogenomics, about personalised medicine, about delivering the right drug to the right patient basedon genetic information.  That’s nearly 20 years ago now, which demonstrates that this is not a new idea, and nor is it one that has been quick to realise.

Within Edinburgh, the HiSeq X systems will be run by a new clinical genomics division of Edinburgh Genomics, directed by Tim Aitman.  All other sequencing, including agrigenomics, environmental and non-genomic human sequencing will be run by the existing Edinburgh Genomics infrastructure, Edinburgh Genomics Genome Sciences, directed by Mark Blaxter.  Existing customers, and those who work in fields other than human genomics should rest assured that we remain committed to our existing facility and will continue to deliver high quality data and projects across the biological sciences using our current install of HiSeq 2500 and MiSeq sequencers.

These are very, very exciting times!