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Illumina, University of Oxford Partner on 500-Genome Study

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – Illumina and the University of Oxford will collaborate on a clinical sequencing effort that will analyze the genomes of 500 individuals to gain insights into the genetic variants that may be involved in a range of diseases, the San Diego-based firm said today.

Under the alliance, Illumina will sequence 100 genomes at its lab in Chesterford, UK, and the remaining 400 genomes will be sequenced on HiSeq 2000 systems at the Wellcome Trust Centre for Human Genetics at Oxford.

Oxford clinicians will analyze the sequencing data to identify mutations that may be validated, used to diagnose diseases, and to inform treatment options. The effort will focus on cancer, immunological disorders, and rare Mendelian diseases, all of which involve mutations that could be difficult to discover by standard genetic tests.

"This collaboration represents a remarkable and very important step toward using whole-genome sequencing for translational medicine — where a patient's individual genetic information can be used to make key healthcare decisions," Illumina Chief Scientist David Bentley said in a statement. "This collaboration also will help Illumina advance its technology to better meet the specific needs of clinical environments."

"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," Professor Peter Donnelly, who is director of the Wellcome Trust Centre for Human Genetics at Oxford.

Illumina said that the collaboration already has resulted in one "breakthrough," as sequencing data from one family has revealed a de novo genetic mutation that is responsible for a life-threatening cranial development defect. Oxford researchers have used the genomic information to diagnose the disorder, evaluate potential healthcare options, and to provide the family with genetic counseling.