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OUH looks at Legacy of 100,000 genomes

A meeting involving clinicians, academics and patients has taken place in Oxford to celebrate the successes of the 100,000 Genomes Project and how genomic medicine becomes a routine part of NHS care in future.  more information can be found here.

The meeting, held on 28 February 2019, Rare Diseases Day, was organised by the Oxford Genomic Medicine Centre, based at Oxford University Hospitals. Among the speakers were Professor Sir John Bell, Regius Professor of Medicine at the University of Oxford, and Professor Dame Sue Hill, Chief Scientific Officer for NHS England, who praised the ‘significant contribution to the national programme’ made by Oxford.  (Sir John Chairs the Oxford AHSC Board)

Dr Edward Blair, Clinical Director of the Oxford NHS Genomics Medicine Centre (GMC), who chaired the event, said: “The reason we’re here today is to celebrate Oxford’s achievements in the 100,000 Genomes Project and our ongoing success from being part of this programme. We recruited over 6,000 patients to the project, and given that we only made up five percent of the national population, that’s a remarkable achievement.

“We’ve helped drive new diagnoses for patients, helped deliver a massive research agenda, and we’re taking this into the NHS as part of the new national Genomic Medicine Service, which we’re hearing lots about today.”

Oxford was the biggest recruiter nationally for haematological cancers, and far exceeded its target for recruitment of patients with rare diseases.

Sir John Bell recalled how a group of genomic scientists, who had already been testing whole genome sequencing in clinical diagnostics, convinced the then Prime Minister David Cameron in 2011 to fund the 100,000 Genomes Project.

“This was a high-risk project, but it has produced what I consider to be a remarkable state – this is the world-leading example of a genetic diagnostic programme in a healthcare system delivering data at scale,” he said. “No other country in the world is operating at this level.”

He pointed out that the UK – and Oxford – was also making great strides in the fields of digital pathology and artificial intelligence, which, when used in conjunction with genomics made the UK ‘uniquely placed in this space’.

Sir John, a leading figure in the UK’s new life sciences industrial strategy, explained that genomics is fundamental to the strategy, both in terms of economic growth, especially in the growing digital health field, but it could also underpin a ‘new paradigm for healthcare’, based on earlier diagnosis.