Genomics England and Illumina have jointly announced a new agreement, which will see them deliver up to 300,000 whole genome equivalents over the next five years, with an option to increase to 500,000.
The partnership comes off the back of the success of the 100,000 Genomes Project in December 2018, which established protocols for consent from patients with rare genetic diseases and cancer, tissue sample requirements, standardised DNA sequencing, data analysis and reporting.
As a part of the collaboration 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, with the expectation that the number of eligible clinical indications will expand over time.
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.
The project works towards health secretary Matt Hancock’s ambition to analyse up to five million genomes (including whole genome sequencing) by 2024, “enabling the UK to maintain its position as a global leader in genomics.”
Genomic medicine has “enormous potential” to improve the diagnosis and treatment of some of our deadliest diseases, explained Nicola Blackwood, health minister, “helping patients to live longer, healthier lives.”
She continued: “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.”
The sequencing will be undertaken by Illumina Laboratory Services using the NovaSeq 6000, BaseSpace Sequence Hub and Illumina analysis tools.
In October last year, UK Research and Innovation announced a new £200m project to sequence 500,000 people's genetic codes, in order to better understand, diagnose, treat and prevent life-changing diseases, including cancer and dementia.