The 100,000 Genomes Project is making good progress. The project is at the leading edge of global science, developing ground breaking new techniques and protocols.
Genomics England has developed semi-automated bioinformatics to analyse genomic data to find the cause of disease. To date, over 29,000 whole genomes have been sequenced and reports are already being returned to the National Health Service who are responsible for discussing clinical interpretations and next steps with patients.
The project is already changing the lives of patients with a rare disease – providing many patients with diagnoses for the first time, often after years of uncertainty and distress whilst helping to reduce considerable costs to health and social care budgets.
Genomics England and NHS England are actively developing a fast track pipeline for patients with cancer who are participating in the Project. We are aiming to reduce the time from sample acquisition to the return of a report to four weeks. This will increase the utility of the service to clinicians and patients alike.