Sequencing 500 human genomes—just like that

Illumina and University of Oxford collaborate in search for genetic basis of rare diseases

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SAN DIEGO—On the same day it announced that the company's board of directors had authorized the repurchase, on a discretionary basis, of up to $100 million of its outstanding common shares in the open market or in privately negotiated transactions, Illumina Inc. continued its hot streak by agreeing with the University of Oxford to sequence the whole genomes of 500 individuals afflicted with a range of life-threatening diseases that pose major challenges in diagnosis, treatment and care.

Under the agreement, Illumina will sequence 100 genomes at its Chesterford site in the United Kingdom. The remaining 400 genomes will be sequenced at the Wellcome Trust Centre for Human Genetics in Oxford.

Illumina's HiSeq 2000 systems will be used to generate sequence data for the 500 genomes. Illumina claims that the HiSeq 2000 system provides "unprecedented output and a breakthrough user experience. Leveraging Illumina's proven and widely-adopted, reversible terminator-based sequencing by synthesis chemistry in combination with innovative engineering, HiSeq 2000 delivers the industry's highest sequencing output and fastest data generation rate. Human interaction design features and the easiest sequencing workflow set a new standard for simplicity and user experience."

Clinicians and geneticists at Oxford will analyze the data generated by Illumina's technology to evaluate patients' genomes in an effort to identify mutations that may be validated, used to diagnose their diseases and inform potential treatment options. As a prelude to this effort, the team solicited cases from the Oxford clinical community to gain insight into the range of patients and diseases that might benefit most directly from whole-genome sequencing. The project will focus primarily on cancer, immunological disorders, and rare Mendelian diseases, all involving mutations that would be difficult or impossible 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," says David Bentley, vice president and chief scientist at Illumina. "We are excited to be working with Oxford on this effort. This collaboration also will help Illumina advance its technology to better meet the specific needs of clinical environments."

The team believes the collaboration will 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 collaboration has already had its first exciting breakthrough—information obtained by sequencing the genomes of a family revealed a de-novo genetic mutation believed to be responsible for a life-threatening cranial developmental defect in a four-year-old girl. Oxford clinicians have been able to use the whole-genome sequence information to identify mutations that, when validated, enable them to properly diagnose the disorder, evaluate potential healthcare options and provide this patient's family with genetic counseling.

"This case demonstrates the great potential of next-generation sequencing technology to elucidate the underlying genetic causes of disorders that are difficult to diagnose," says Prof. Peter Donnelly, director of the Wellcome Trust Centre for Human Genetics at the University of Oxford. "Our collaboration with Illumina, studying over a hundred different diseases, will allow us to explore the value of whole-genome sequencing in clinical medicine in informing diagnosis and treatment decisions for patients. 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."

Illumina is also working to bring whole-genome sequencing to patients worldwide through its Individual Sequencing Service (IGS), featuring the company's CLIA certified/CAP accredited clinical services laboratory.

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