A bold ambition

When the first draft of the whole human genome was announced in 2003, it was claimed that it would revolutionise medical treatment. It had taken 13 years and over £2 billion to painstakingly read every letter of the code. Now a human genome can be sequenced in a few days for less than £1000. This leap in the speed and cost of technology has opened up the potential of genomics and brought it within reach of mainstream healthcare. The potential of genomics is huge, leading to more precise diagnostics, new medical devices, faster clinical trials, new drugs and treatments and potentially, in time, new cures, and the delivery of true personalised medicine. Genomics England was set up to deliver a flagship project – the 100, 000 Genomes Project - which will sequence 100, 000 whole genomes from around 75, 000 NHS patients by 2017. Its four main aims are: to create an ethical and transparent programme based on consent; to bring benefit to patients and set up a genomic medicine service for the NHS; to enable new scientific discovery and medical insights; and to kick start the development of a UK genomics industry. The project will focus on rare diseases and cancer. There are between 5000 and 8000 rare diseases. Each one affects less than 0.1% of the UK’s population, but together they affect the lives of 3 million people. At least 80% of rare diseases are genomic, with half of new cases found in children. Knowledge of the whole genome sequence may identify the cause of some rare diseases and help point the way to new treatments for these devastating conditions – vital progress given that some rare diseases take two or more years to identify. As most rare diseases are inherited, the genomes of the affected individual (usually a child) plus two of their closest blood relatives will be included to pinpoint the cause of the condition. The first samples for sequencing were taken from patients living in England with discussions taking place with Scotland, Wales and Northern Ireland about potential future involvement. Patients have already benefitted from participation in the project. As part of 2016’s HPE LIVE event, we plan to deliver a session on personalised medicine and the work of the 100, 000 Genomes Project – please check the programme for details of this and other informative sessions.