A new company owned by the Department of Health England will sequence 100,000 whole genomes from English healthcare system patients by 2017.
100 000 Genomes Project will focus on patients with a rare disease, their families and patients with cancer. It aims to enable new scientific discoveries and medical insights and to kick start the development of a genomics industry.
At least 80 percent of rare diseases are genomic with half of new cases found in children. Knowledge of the whole genome sequence may identify the cause of the disease and help develop new treatments . As most rare conditions 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.
When the first draft of the whole human genome was announced in 2003 it had taken 13 years and over £2 billion to accomplish it. Now claims are made that a human genome can be sequenced in a few days for around £1000 and it has opened up the potential of genomics to become part of the mainstream healthcare.
In all, it is anticipated that about 75,000 people will be involved of which 40,000 will be patients with serious illness. There has already been an extraordinary response by patients and their families wanting to take part in the Genomics England pilot.
You can find out more on project’s site.