Genomics and genome editing in the NHS Contents
Annex: Visit to Genomics England
Three Members of the Committee visited Genomics England in London on 24 January 2018: Vicky Ford MP, Darren Jones MP and Norman Lamb MP (Chair).
The visit included discussion of issues involved in the Committee’s inquiry into genomics and genome sequencing in the NHS, as well as a demonstration of the bioinformatics portal clinicians can use to analyse whole genome sequencing results.
Key points from the discussion included:
- The number of genomes sequenced is growing at a beyond-linear rate, and Genomics England are confident of reaching 100,000 sequenced genomes by the revised target of the end of 2018.
- The Genomic Medicine Service is expected to conduct 750,000 tests per year, a small proportion of which will be whole genome sequencing. This proportion is anticipated to rise to around 100,000 whole genome sequences per year by 2021.
- Individual patient stories demonstrate the ability of whole genome sequencing to provide diagnoses and inform treatment. Health economic analysis of the ‘diagnostic odysseys’ that individual patients with rare diseases can currently endure also shows the potential for whole genome sequencing to save costs.
- Challenges for delivering routine whole genome sequencing in the NHS remain. In order to establish a national Genomic Medicine Service, with equity of access across England, digital interoperability and common genomic testing protocols will have to be developed and adopted. Policy commitments have been made to provide the requisite funding to establish the Genomic Medicine Service, but not all budgets have formally been agreed.
- Genomics England have an obligation to gain commercial value from the genome data they collect, subject to patient safeguards. Although other companies offer genome sequence and associated data, the scale of Genomics England’s data set makes it unique. Genomics England are intent on maintaining control over the data they collect, and are in the early stages of developing suitable business models for external access to their data.
Published: 20 April 2018