Genetics: Research

(asked on 23rd March 2017) - View Source

Question to the Department of Health and Social Care:

To ask the Secretary of State for Health, what progress has been made on the 100,000 Genome Project; and if he will make a statement.


This question was answered on 31st March 2017

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.

The Northern Ireland Department of Health and Medical Research Council have provided £3.3 million funding for the Northern Ireland Genomic Medicine Centre which received approval to go live in February 2017, becoming the first of the devolved nations to do so. Recruitment of participating patients has commenced and is on schedule to meet project targets. Sequencing will be performed by Genomics England and the results will be passed back to clinical experts at the Belfast Health and Social Care Trust.

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.

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