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Genomics England and Illumina partner to deliver whole genome sequencing for England’s NHS Genomic Medicine Service

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.

The introduction of whole genome sequencing as part of routine clinical care, as signalled in the NHS Long Term Plan, represents a step change in the genomic testing available on the NHS as part of the Genomic Medicine Servi as part of our world leading offer to patients. This will enhance our ability to fully embrace all aspects of personalised medicine from predictive prevention to a more precise diagnosis and targeted treatment for better outcomes.

Professor Dame Sue Hill

Chief Scientific Officer for NHS England

Genomic medicine has enormous potential to improve the diagnosis and treatment of some of our deadliest diseases – helping patients to live longer, healthier lives. Our 100,000 Genomes Project has already delivered life-changing results for many people, and this agreement between Genomics England and Illumina is another transformative step towards the NHS becoming a truly predictive, preventative and personalised health service.

Nicola Blackwood

Health Minister

Delivering 100,000 genomes was a tremendous achievement, which would not have been possible without the partnership of the NHS, and the academic, clinical and commercial communities. We are delighted to be extending our relationship with Illumina, who have been an invaluable partner since 2014, and continue supporting the accelerated uptake of advanced genomic medicine into the NHS. The UK is already leading the way, but this agreement builds on the strong foundations by demonstrating further the commitment of the UK life sciences sector to supporting the NHS’ delivery of truly personalised care.

Professor Sir Mark Caulfield

Chief Scientific Officer of Genomics England

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 research component of this agreement is also incredibly important as, together, we will develop new approaches to unlocking the power of the genome and go on to identify more variants that underpin the full panoply of human diseases.

Dr David Bentley

Chief Scientist, Illumina

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