Abstract

Genomics England: The 100,000 Genomes Project

Mark Caulfield, Chief Scientist, Queen Mary University of London

The 100,000 whole genome sequencing project has already begun to deliver new diagnoses to patients with rare disease and will continue to deliver new opportunities for biological insights into cancer and infection. This healthcare transformation programme has created 11 new Genomic Medicine Centres, a new NHS Genomic Sequencing Centre and appointed 9 providers of Masters in Genomic Medicine to build the essential capacity to deliver genomic medicine at scale. There are several technical and analytical challenges to be overcome to transform the application of genomic medicine in the National Health Service. If we can harness this opportunity it provides the prospect of new opportunities for therapeutic innovation and advances in stratified medicine.