Data Backup Digest

Despite the fact that they are recognized as the worldwide leader in DNA sequencing instruments, Illumina isn't exactly a household name. However, given some of the recent advancements in medical technology, as well as their own contributions to the field, they may be headed toward the mainstream.

Their latest solution, the BaseSpace Informatics Suite, enables laboratories without access to genomic computing systems to perform genetic variant testing through Illumina's own, cloud-based infrastructure. The end result is a sudden leap forward in human DNA testing, with most of the benefits going toward smaller facilities.

Sanjay Chikarmane, senior vice president of Illumina's Enterprise Informatics division, spoke about the current state of data informatics in the healthcare sector. He said: "One of the things we’re finding more and more is that, while the cost of sequencing is going down, the cost of processing all the data that comes off the sequencer and doing the interpretation has been stuck in the same place it has been for years.”

Per Illumina's website, the BaseSpace Informatics Suite will let users acquire data through workflow automation and thorough sample tracking, analyze and share data through the secure BaseSpace Sequence Hub, interpret data via the BaseSpace Variant Interpreter and aggregate data with the BaseSpace Cohort Analyzer as well as the BaseSpace Correlation Engine.

Illumina's senior vice president of Enterprise Informatics went into further detail about some of the processes within the BaseSpace Informatics Suite by saying: "The value proposition of the BaseSpace Suite is that it’s an integrated, end-to-end solution already, so the customer doesn’t have to integrate the analysis part with the interpretation part with the reporting part."

Chikarmane also said: "When you get into whole exome or whole genome, you’re literally looking at millions of variants. So we’re providing the tools to filter these things down to a small number of potentially relevant variants."

Although a rather innovative concept, this isn't Illumina's first foray into the cloud. In fact, the company originally launched their generalized BaseSpace environment back in 2012, which essentially serves as an app store for genomics sequencing software. The BaseSpace Informatics Suite is being released through this store, which is known as the BaseSpace Sequence Hub.

In fact, the BaseSpace Sequence Hub is a rather impressive creation in its own right. Giving users the freedom to mix and match third-party software while still working within Illumina's cloud infrastructure is a luxury that isn't always available, especially in a field as complex and advanced as this.

BaseSpace Informatics Suite was demonstrated to IT professionals at the Bio-IT World Conference & Expo, which recently took place in the city of Boston. The team walked with the People's Choice Award during the event's Best of Show Competition, so it's safe to say that they've already attracted the attention of industry experts. How this will affect the future of Illumina is anybody's guess, but it certainly looks bright.

To find out more information about Illumina, please visit their official website at www.ilumina.com. For details regarding the BaseSpace Informatics Suite, head over to www.illumina.com/informatics.html.