The tools will operate within the Genomics England secure database to enable researchers and clinicians to access information and reports more readily.
Genomics England is partnering with Illumina to develop and deliver systems for clinical interpretation, decision support and knowledge curation for the 100,000 Genomes Project. This non-exclusive partnership with Illumina will run in parallel with the other clinical interpretation and bioinformatics providers involved in the 100,000 Genomes Project.
Illumina and Genomics England will collaborate to develop a set of informatics tools, which will support the delivery of genomic clinical and research services at a population scale to the NHS Genomic Medicine Centers and the Genomics England Clinical Interpretation Partners. All of the tools will include open application programming interfaces so that other bioinformatics solution partners can continue to provide services within the Project.
Under the terms of the partnership, Illumina will develop interpretation and reporting tools for the purpose of delivering reports on all genomes that are sequenced through the 100,000 Genomes Project. Genomics England will provide access to whole genome sequence and de-identified phenotypic data for the development of this suite of tools for personalised medicine. The tools will be used to curate and manage the knowledge base of information generated over the course of the project with a focus on rare disease and common cancers. Illumina and Genomics England have agreed to make available the clinical findings arising from the 100,000 Genomes Project to approved users of the tools developed through the collaboration.
The partnership also includes the ability for Genomics England to work with Illumina's other tools, NextBio® and BaseSpace®, for data access and genomic data management. Illumina will make available to Genomics England researchers and the GENE Consortium part of the 100,000 Genomes dataset as a pilot within NextBio® Clinical, which will enable cohort analysis of complex phenotypic and genotypic information from de-identified genomes.
"Our partnership with Genomics England will help change the way healthcare is practiced," said Jay Flatley, Illumina's Chairman and CEO. "The development of our suite of technologies and platforms is critical to enabling physicians in the future to make educated diagnoses based on a patient's genome which will lead to better health outcomes."
Sir John Chisholm, Executive Chairman of Genomics England said: "This agreement allows Genomics England to access Illumina's bioinformatics knowledge and experience to support our ambitions of transforming patient care and research. We are both committed to patients benefiting from genomic analysis across the NHS and to supporting clinicians and researchers in finding new genomic insights. Illumina is our key sequencing partner and they are now able to also support us, alongside our other partners, in solving the challenges of delivering clinical reporting and knowledge curation at a national scale."