Scottish Genomes Partnership hosts Cabinet Secretary

at Edinburgh Genomics

"The Scottish sequencing centres are a real jewel in our crown. Edinburgh Genomics has already sequenced more than 8,000 genomes, and is making a direct impact on clinical care."

Professor Tim Aitman, Co-Chair of the Scottish Genomes Partnership

24th January 2018

SGP hosts Cabinet Secretary at Edinburgh Genomics

On Wednesday 24th 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 and to make more precise cancer diagnoses.

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.

Professor Tim Aitman greets Shona Robison MSP, the Cabinet Secretary for Health and Sport, on arrival at the Roslin Institute.

Professor Tim AitmanDirector of Edinburgh Genomics Clinical Division and Director of the University of Edinburgh’s Centre for Genomic and Experimental Medicine, told the Cabinet Secretary,“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.” Shona Robison heard from Professor Moira Whyte, Head of the University of Edinburgh's Medical School, how a £15m partnership with Illumina in 2014 by the Universities of Edinburgh and Glasgow founded the Scottish Genomes Partnership, 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.

Dr Javier Santoyo-Lopez, Facilities Manager of Edinburgh Genomics Clinical Division, explains to Shona Robison MSP, Cabinet Secretary for Health and Sport, how the state-of-the-art genome sequencing facilities at the Roslin Institute operate. Five Illumina HiSeqX machines are installed at the Roslin facilities, which are one of the most advanced in the world.

Professor Zosia Miedzybrodzka answering a question about how the technology is used clinically, whilst Professor Moira Whyte, Head of the Medical School, looks on.

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. Whole genome sequencing examines the entire genetic code of an individual, while exome sequencing is the targeted analysis of the gene regions that code for protein. As we learn more about what individual DNA changes can mean for health and disease, information provided by these sequencing techniques will be used by the NHS to provide new diagnoses and treatments.

Professor Zosia Miedzybrodzka (Chief Investigator for the Scottish collaboration with the 100,000 Genomes Project and National Clinical Lead for the Scottish Genetics Consortium), Professor David FitzPatrick (Paediatric Geneticist, MRC Human Genetics Unit, University of Edinburgh) and Dr Susie Cooke (Head of SGP Cancer Informatics, University of Glasgow) explained how 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 whole genome analysis is expected to find many more. 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. Within cancer, the genomic profile of a tumour will guide the clinical team about the best treatment or clinical trial options, avoiding procedures which would be ineffective in those circumstances.

Shona Robison MSP, the Cabinet Secretary for Health and Sport, with (L to R) Professor Zosia Miedzybrodzka,

Professor Tim Aitman, Dr Javier Santoyo-Lopez and Professor Moira Whyte.

© 2020 Scottish Genomes Partnership

Scottish Genomes Partnership gratefully acknowledges the funding received from the Chief Scientist Office of the Scottish Government Health Directorates and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative.