Cabinet Secretary visits Edinburgh Genomics at The Roslin Institute

Shona Robison MSP, Cabinet Secretary for Health and Sport, visited Edinburgh Genomics at The Roslin Institute.

On Wednesday 24^th January Shona Robison MSP, Cabinet Secretary for Health and Sport, visited Edinburgh Genomics Clinical Division, based at The 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.

Scottish universities are proud to be working at the leading edge of next-generation genomic sequencing technology. 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), and was followed by a £6m joint investment in research by the Scottish Government and Medical Research Council. 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 UK National Health Service (NHS) to provide new diagnoses and treatments.

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. This took more than 10 years but routine turnaround is now less than 6 weeks.

Professor Tim AitmanCo-Chair of the Scottish Genomes Partnership, Director of Edinburgh Genomics Clinical Division and Director of the University of Edinburgh’s Centre for Genomic and Experimental Medicine

Genomic technology is already making a direct impact on clinical care. More than 30 new genes have been identified through the Deciphering Developmental Disorders (DDD) exome sequencing project and we expect whole genome analysis to find many more. Within the next few years whole genome sequencing is expected to become the NHS test of choice for rare genetic diseases as costs continue to reduce and analysis becomes more automated.

Professor Zosia MiedzybrodzkaClinical Geneticist for NHS Grampian, Chief Investigator for the SGP collaboration with the 100,000 Genomes Project and National Clinical Lead for the Scottish Genetics Consortium

The Roslin Institute hosts a laboratory of Edinburgh Genomics with cutting-edge Whole Genome Sequencing technology. We were delighted to show it to Shona Robison MSP and tell her about the genome projects we've run in the facility and our plans to develop further genome sequencing.

Dr Javier Santoyo LopezThe Roslin Institute, Edinburgh Genomics