Genomics England and Illumina partner on whole genome sequencing

Genomics England has announced it will partner with Illumina, a US-based manufacturing and service company providing automated DNA sequencing, to sequence up to 300,000 whole genomes over the next five years, with an option to increase the number to 500,000.

The partnership builds on the 100,000 Genomes Project, which was successfully completed by Genomics England in partnership with Illumina in December 2018. Genomics England was specifically founded by the UK Department of Health and Social Care to run the 100,000 Genomes Project. The project previously established protocols for consent from patients with rare genetic diseases and cancer, tissue sample requirements, standardised DNA sequencing, data analysis and reporting.

The new collaboration is set to analyse further samples from NHS patients with rare diseases to support diagnosis and improve treatment options. The clinical samples will be provided through the NHS Genomic Medicine Service. It is expected that the number of diseases eligible for sequencing will expand over time. Additionally, Genomics England will provide sequencing samples for research purposes.

The project also supports the ambition voiced by health secretary Matt Hancock to analyse up to five million genomes by 2024 in the hopes of the UK maintaining its position as a global leader in the field of genomics.

'The introduction of whole genome sequencing as part of routine clinical care...represents a step change in the genomic testing available on the NHS' said Professor Sue Hill, chief scientific officer for NHS England. She continued: 'This will enhance our ability to fully embrace all aspects of personalised medicine from predictive prevention to more precise diagnosis and targeted treatment for better outcomes.'

Sequencing will be undertaken by Illumina Laboratory Services in Cambridge, UK. In October 2019 is was announced that UK Research and Innovation would allocate £200 million to sequence 500,000 human genomes to better understand, treat and prevent severe diseases, such as cancer and dementia.

Dr David Bentley, chief scientist at Illumina said: 'Building on the highly innovative and successful 100,000 Genomes Project, we're delighted to move to the next phase of working with Genomics England, and now also with the NHS, to help transform England's healthcare service into the first in the world to benefit from routine whole genome sequencing.'

The sequencing service is expected to start in April of this year. Illumina said it will not store any patient samples or data.