Professor Sir Mark Caulfield

“The UK 100,000 Genomes Project has focussed on transforming genomic medicine in the National Health Service using whole genome sequencing in rare disease, cancer and infection. Whole genome sequencing is reading as much of entire genetic code as we can today. Genomics England partnering with the NHS established 13 Genomic Medicine Centres, the NHS whole genome sequencing centre and the Genomics England Clinical Interpretation Partnership (3500 researchers from 33 countries). We sequenced the 100,000th genome on the 5th December 2018 and have returned results to the NHS. Alongside these genomes we have assembled a longitudinal life course dataset for research and diagnosis including >4 billion clinical data points for researchers to work on to drive up the value of the genomes for direct healthcare. In parallel we have partnered the NHS to establish one of the world’s most advanced Genomic Medicine Services where we re-evaluated 300,000 genomic tests and upgraded 25% of tests to newer technologies with an annual review and 500,000 whole genomes will be available from direct care over the next 5 years. Several countries including Australia, Denmark, France, Japan, Sweden, Qatar, and the United Arab Emirates are all embarked on programmes that will transform genomics in healthcare for their populations.”