Professor Mark Caulfield spoke to Observer Science Editor Robin McKie about the pioneering work of the 100,000 Genomes Project as it approaches its halfway point.
Since its launch in 2012 the 100,000 Genomes Project has been working to bring the benefits of genomics to NHS patients. By sequencing 100,000 genomes from around 700,00 people made up of patients with a rare disease, their families and cancer patients, the project aims to create a new genomic medicine service for the NHS – transforming the way people are cared for. The project is also enabling new medical research. By combining genomic sequence data with medical records researchers are able to study how best to use genomics in healthcare and how best to interpret the data to help patients.
Later this month, the project will reach a significant landmark as it sequences its 500th genome. In the article, Chief Scientist Professor Mark Caulfield said: “These sequences are showing us how to think about tailoring therapies and offer clinical trial opportunities that could have enormous potential. We are highlighting what changes in DNA have occurred in a patient and, crucially, we are also able to provide links to potential clinical trial opportunities from which a clinician can make a selection that best suits their patient”.