US-based company Illumina, Inc is collaborating with the UK’s Oxford University on a genome-sequencing project to inform the diagnosis and personalised treatment of life-threatening diseases.

Illumina develops, manufactures and markets life science tools and integrated systems for the analysis of genetic variation and function. The company’s high-throughput sequencing technology, Illumina HiSeq 2000, will be used to sequence the whole genomes of 500 people with life-threatening diseases drawn from the Oxford clinical community.

The initiative will focus mainly on cancer, immunological disorders and rare Mendelian diseases, all of which involve mutations that would be difficult or impossible to identify using standard genetic tests, Illumina noted.

The company will sequence 100 of the genomes at its Chesterford site in the UK while data from the remaining patients will be generated using HiSeq 2000 systems at the Wellcome Trust Centre for Human Genetics in Oxford.

Enormous value

Clinicians and geneticists at Oxford University will analyse the accumulated data in an effort to identify mutations that may be validated and used both to diagnose patients’ diseases and to inform potential treatment options.

According to Illumina, the collaboration should “demonstrate the enormous value that next-generation sequencing holds for clinical research, as it empowers clinicians and geneticists to evaluate the genetic basis of diseases with a previously unmatched level of precision”.

The initiative “represents a crucial step as we move towards a new healthcare paradigm in which genetic information from next-generation sequencing is likely to become much more widely used in routine medical practice”, said Professor Peter Donnelly, director of the Wellcome Trust Centre for Human Genetics at the University of Oxford.