Monday 21 October 2013

Genomics England is go

Genomics England is steaming ahead to sequence 100,000 genomes from NHS patients. Today Genomics England and Illumina announced their intention to start the 1st 10,000 genomes as part of a seqeucning contract run by Illumina.
Set up by the Department of Health and announced by the PM (when visiting my lab) in December 2012, the Genomics England project has some lofty goals. If the team can deliver then the NHS and the UK population really could benefit from the advances in molecular medicine. I for one would be glad to see the NHS take the lead on the word stage as we've had some pretty big milestones so far in the UK:

1953 and the structure of DNA was discovered in the UK.
1977 Sanger DNA sequencing invented in the UK.
1997 Solexa sequencing invented in the UK.
2020 UK NHS 1st to screen all cancer patients with NGS?

The £100 million so far pledged by the UK government will (according to the Genome England website):
  • train a new generation of British genetic scientists to develop life-saving new drugs, treatments and scientific breakthroughs;
  • train the wider healthcare community to use the technology;
  • fund the initial DNA sequencing for cancer and rare and inherited diseases; and
  • build the secure NHS data linkage to ensure that this new technology leads to better care for patients.
See the Science working group report if you'd like to know more about where they are going.

This morning Genomics England and Illumina announced their intention to start a 3 year programme of sequencing genomes. The 1st 10,000 genomes will be for rare diseases and this has real potential to impact many patients; ideally with treatments for their disease, but at the very least a hope that a causal mutation is discovered.

This is the first step for the NHS to develop the infrastructure required to bring WGS into routine clinical practice. But the UK is likely to need a big and shiny new sequencing space if we are going to do what David Cameron said and do all the sequencing in England. Note that is very carefully stated, the seqencing will be in England; not China, not the US, and not Scotland!

Whether we will we realistically sequence whole genomes from 100,000 patients is not clear. The infrastructure to do this in a timely fashion does not exist in the UK (yet). And as the technologies for sequencing improve clincal exomes, amplicon panels and whole genomes will all need to be considered to find the best fit for different groups of patients.

With Synapdx in the US releasing a Autism Spectrum Disorder test using RNA-seq it is clear that genomes are just the tip of the iceberg.

1 comment:

  1. Hi James,

    That all sounds intriguing. Given that Illumina aren't CPA accredited (like NHS labs) I wonder who will end up doing the analysis of the data. Any pathogenic variants identified will need to be analysed in an NHS lab before being fed back to patients, which should make for some potentially interesting collaboration between public and private sectors...



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