Illumina Secures Major Contract with Genomics England to Sequence Additional 300,000 Genomes Following Successful 100,000 Genomes Project

Illumina and Genomics England Sign New Agreement to Sequence 300,000 Genomes Within Five Years

Under the terms of the agreement, Illumina will provide Genomics England with 300,000 whole-genome sequencing services, with the potential to increase this number to 500,000 depending on circumstances. Within the UK’s National Health Service (NHS), patients suffering from known rare diseases and specific types of cancer will be eligible for whole-genome sequencing (WGS) to support physicians in diagnosing diseases and guiding treatment plans.Implementation.

Clinical samples were primarily sourced from the UK NHS Genomic Medicine Service, while research-purpose samples were mainly derived from Genomics England and the UK Life Sciences Strategy.Illumina’s laboratory in Cambridgeshire, UK, will use the NovaSeq 6000 to sequence these samples.

Image source: https://www.gov.uk/

Illumina CEO Francis deSouza stated at the 38th Annual J.P. Morgan Healthcare Conference in San Francisco that, regarding population health, this is not a one-time research project; rather, the goal is to ensure that everyone has the opportunity to choose genomic sequencing as a standard treatment option in the future. He also remarked, “Undoubtedly, the UK is a leader in applying genomics technology to population health.”

UK Health Secretary Nicola Blackwood stated in a press release: “The achievements of the 100,000 Genomes Project have already transformed many lives, and this agreement between Genomics England and Illumina marks another transformative step toward making the NHS a truly predictive, preventive, and personalized healthcare system.”

Illumina’s Chief Scientist, David Bentley, also stated: “The research outlined in the agreement is equally critical. Building on the findings from this project, we will develop new methods to further unlock the potential of the genome and continue to identify additional gene mutations associated with human health.”

This agreement was established on the basis of the UK 100,000 Genomes Project. The project was announced in 2012 and completed in 2018. In 2014, Genomics England selected Illumina as its partner for genomic sequencing.

An Illumina spokesperson mentioned in an email that Illumina will apply the throughput established in the 100,000 Genomes Project to this project.

Illumina’s Cambridge laboratory can analyze 60,000 genomic samples annually using ISO-accredited bioinformatics data processing pipelines. The turnaround time is approximately 28 days for rare disease samples and 21 days for cancer samples. A company spokesperson stated, “At present, we are the only institution capable of handling this batch of orders.”

The 100,000 Genomes Project took longer to complete than initially estimated, due to the need to address certain technical challenges, including the generation of high-quality cancer genomes and the development of analysis pipelines.

In 2017, as the 100,000 Genomes Project was nearing completion, Genomics England announced its Whole Genome Sequencing (WGS) program.

Illumina stated that its genome sequencing service would launch in April this year. At that time, genetic counselors within the UK’s National Health Service (NHS) will be able to apply for whole-genome sequencing for patients suffering from conditions listed in the UK’s National Genomic Test Directory. Before samples are shipped to Illumina, one of the seven NHS Genomic Medicine Laboratories will receive tissue, blood, or DNA samples. Illumina will return the raw genomic data files to Genomics England for processing and transfer to the commissioned genomic medicine service laboratories. Illumina stated that it will not retain any patient genomic samples or data. Illumina expects that, over time, the range of indications will expand beyond rare diseases and cancer, benefiting a broader population.

Mr. Mark Caulfield is the CSO (Chief Scientific Officer) of Genomics England. In a statement, he said that the UK is leading the world in the application of genomics, and the 100,000 Genomes Project further demonstrates the determination of the UK’s life sciences sector to support the NHS in delivering truly personalized healthcare.