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Illumina Announces Expedited Individual Genome Sequencing Service

Published: Friday, February 01, 2013
Last Updated: Friday, February 01, 2013
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Breakthrough turnaround time for human genome sequencing available via Illumina’s CLIA-certified laboratory.

Illumina, Inc. has announced the introduction of its rapid Individual Genome Sequencing (IGS) service with a turnaround time in as little as two weeks.

Rapid turnaround whole genome sequencing services were announced by Illumina in June 2012, enabled by technology innovations to the HiSeq® platform.

Now these advancements have been implemented in Illumina’s CLIA-certified laboratory to enable the same fast turnaround for the IGS service.

The IGS service is only available through a physician’s order and is designed to assist clinicians with diagnosis and treatment decisions.

As the only CLIA-certified, CAP-accredited whole genome sequencing service laboratory in the world, Illumina continues to increase access and lay the foundation for routine clinical use of whole-genome sequencing.

“Illumina has long believed that sequencing will become a mainstream practice in the clinical setting. By delivering a whole human genome in as little as two weeks, we have taken significant strides towards that goal,” said Illumina President and CEO Jay Flatley.

Flatley continued, “Whole genome sequencing is quickly gaining recognition for its potential in diagnostics and treatment decisions, particularly in cases where physicians are challenged with identifying a disorder based on symptoms that don't quite fit with a known disease. When this happens, rapid whole-genome sequencing can provide big-picture information about genetic makeup, enabling physicians to make more informed decisions and patients to obtain answers more quickly.”

Validated for laboratory use in accordance with CLIA and CAP regulations and guidelines, Illumina’s fast IGS service uses Illumina’s HiSeq 2500® sequencing system, which is capable of completing a sequencing run on a whole human genome in one day.

The service will continue to deliver the highest quality, most comprehensive data with the broadest coverage of exomic, promoter, and regulatory regions, as well as fully annotated variants to facilitate clinical interpretation, now available faster.

Illumina is also working on a suite of analytic tools and professional services in collaboration with physicians and medical geneticists to improve clinical interpretation.

“Illumina has delivered on the promise of personalized healthcare by not only enabling clinical interrogation of the whole genome, but also providing the results in a turnaround time consistent with the demands of patient care. This is a game-changer that will revolutionize our field,” said Dr. Leonard Sender, Medical Director, CHOC Hyundai Cancer Institute and Director of the Young Adult Cancer Program at the University of California, Irvine Chao Family Comprehensive Cancer Center.

Initially, the rapid turnaround option is available with limited capacity, and cases will be prioritized by severity in consultation with ordering physicians.

Later this year, Illumina will begin offering focused clinical interpretation for CLIA services, working closely with ordering physicians and leveraging bioinformatics tools and internal medical genetics expertise.


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