Genomics England and Illumina today announced a new agreement to deliver up to 300,000 whole genome equivalents over the next five years, with an option to increase to 500,000. Samples will be provided through the NHS Genomic Medicine Service and the network of seven genomic laboratory hubs across England, which were established in 2018. This supports NHS England’s ambition to lead the world in introducing whole genome sequencing into routine healthcare. Samples will also be provided by Genomics England and from the Government’s Life Sciences Strategy for research purposes.
The agreement builds on the successful delivery of the 100,000 Genomes Project (100KGP), which established consent from patients with rare genetic diseases and cancer, tissue sample requirements, standardised DNA sequencing, data analysis and reporting. It also supports the ambition described by the Rt. Hon. Matt Hancock, Secretary of State for Health and Social Care, to analyse up to 5 million genomes (including whole genome sequencing) by 2024, enabling the UK to maintain its position as a global leader in genomics.
Under the agreement, and guided by the National Genomic Test Directory, samples from NHS patients in England with known rare diseases and cancer types will be eligible for whole genome sequencing, to support diagnosis, inform and improve treatment pathways, and ultimately improve outcomes. The expectation is that the number of eligible clinical indications will expand over time.
The agreement will also continue to facilitate translational research programmes begun by NHS England and Genomics England during the 100KGP with a view to improving patient outcomes through enhanced genomic diagnostic insights.
Whole genome sequencing will be performed by Illumina Laboratory Services (ILS) in Cambridge, UK, operating under Medical Laboratory accreditation (ISO 15189) using the NovaSeq 6000, BaseSpace Sequence Hub and Illumina analysis tools.
Professor Dame Sue Hill, Chief Scientific Officer for NHS England said:
Nicola Blackwood, Health Minister said:
Professor Sir Mark Caulfield, Chief Scientific Officer of Genomics England said:
Dr David Bentley, Chief Scientist, Illumina said: