The Department of Health and Social Care has announced that 50,000 human genomes have now been sequenced as part of the 100,000 Genomes project, which was set up in 2012. It said the 50,000 genomes have been sourced from 40,000 people.
The project has already delivered benefits to participating patients, including faster diagnoses for some patients with rare diseases, as well as personalised treatment for some cancer patients, the government said.
"Whole genome sequencing gives a more complete picture of the precise genetic changes causing an individual’s cancer," the Department of Health and Social Care said. "It opens up a greater range of treatment options. Early analysis has found genetic changes in more than 60% of cancer patients, which could potentially provide new therapies through clinical trials for some of these patients."
Sir John Chisholm, executive chairman of Genomics England, the body leading the work on the 100,000 Genomes project said: "Having built the platform and reached the 50,000 halfway point we are now able to operate at a scale to complete the target by the end of 2018."
Last summer, the UK's chief medical officer, professor Dame Sally Davies, outlined a vision to put genomics at the centre of more personalised health care in the country. Davies said that there are believed to be "over 10,000 potential drug targets in the human genome" and she described this as a "potential goldmine" for influencing the development of new treatments, including where there are "areas of unmet medical need".
At the time, life sciences specialist Helen Cline of Pinsent Masons, the law firm behind Out-Law.com, said that for the potential of genomics medicine to be realised, health systems must be "fully digitised".
"We are already seeing a convergence between the life sciences, healthcare and technology sectors," Cline said. "Alliances between companies in these sectors, adopting a multi-disciplinary approach and using connected health solutions, are integrating knowledge, including genomic data, from multiple sources to inform drug development, reduce inefficiencies, improve patient outcomes and reduce the cost of care."
"However, a more fully digitalised and joined up health service in the UK and internationally is essential for the greater integration of knowledge from genomic and other data sources into patient care and drug development strategies anticipated by the report. It will also be critical to get agreement on international standards for using and sharing personal data that are acceptable to patients," she said.