Scottish Genomes Partnership hosts Cabinet Secretary for Health visit to Edinburgh Genomics
Genome sequencing is being used to help families with an undiagnosed rare disease: January 2018
On Wednesday 24 January Shona Robison MSP, Cabinet Secretary for Health and Sport, visited Edinburgh Genomics Clinical Division, based at the University of Edinburgh’s Roslin Institute, to see first-hand how high-tech genome sequencing technology is being used to help bring an end to the diagnostic odyssey for families with an undiagnosed rare disease.
Edinburgh Genomics was amongst the first centres in the world to deliver whole genome sequencing in the health sector and the first site in Scotland to deploy the latest NovaSeq technology in September 2017. Shona Robison heard how a £15m partnership with Illumina in 2014 by the Universities of Edinburgh and Glasgow founded the Scottish Genomes Partnership (SGP). This was followed by a £6m joint investment in research by the Scottish Government and Medical Research Council that supports research to decode and analyse the entire genetic make-up of more than 3000 people with cancer and genetic diseases in Scotland.
These investments have enabled researchers and clinicians in Scotland to study the genomes of both healthy and sick people on a large scale and faster than before, to make valuable advances in science and medicine.
Next-generation sequencing techniques “read” all of the DNA in a person’s genes letter by letter (all 3 billion of them) to allow comparisons to be made with the DNA of other people. Exome sequencing is the targeted analysis of the gene regions that code for protein. Whole genome sequencing examines the entire genetic code of an individual. As we learn more about what individual DNA changes can mean for health and disease, information provided by these techniques will be used by the NHS to provide new diagnoses and treatments.
Professor Tim Aitman, Co-Chair of the Scottish Genomes Partnership, Director of Edinburgh Genomics Clinical Division and Director of the IGMM’s Centre for Genomic and Experimental Medicine (CGEM), said: “The Scottish sequencing centres are a real jewel in our crown. Edinburgh Genomics Clinical Division has already sequenced more than 8,000 whole genomes, showing how far we have come since the first human genome was sequenced in 2001. That took more than 10 years but routine turnaround is now less than 6 weeks.”
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