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What’s wrong with Illumina’s gene sequencing machine?

April 25, 2017

Recently exposed flaws in Illumina, Inc. ILMN’s gene sequencing technology, which jeopardize past medical achievements and delay progress, sent the company’s stock plunging 2 percent Friday.

Cross-contamination has allegedly skewed the results of numerous sequencing endeavors, forcing many project managers to backtrack, reexamine fundamental processes, retract papers, discard experiments and perform expensive, time-consuming repeats.

Individual labs worldwide discovered data errors at staggered intervals, but awareness spread and a cohesive voice of concern rose early April when reports circulated on Twitter, Inc. TWTR. Illumina shortly issued a response.

Re:Index swap. We’re aware & working on it. Data indicates it occurs at low rates,and impact may be mitigated w/other index approaches (1/2)

Correcting this is a high priority and we are evaluating fixes. Pls keep feedback coming via DM, your Illumina team or email (2/2)

The company then published a report to its website acknowledging its long-held awareness of the issue and methods to minimize its effect.

The Issue Is Significant

The scope of concern is significant. According to Wired, Illumina’s products sequence 90 percent of the sector’s genetic data, and the particular error could have corrupted two years’ worth of studies.

The machines in question are the HiSeq 4000, which sequences hundreds of samples concurrently, and ExAmp, which magnifies faint genetic signals to enable sequencing of very small samples. Gene research teams, such as that of the University of California, use the HiSeq 4000 for about 90 percent of its sequencing processes, while clinical researchers sector-wide employ ExAmp and related machines for high-precision work, such as liquid cancer biopsies.

The stock recovered about 2 percent Monday to a rate of $179.31 and was trading around $179.13 at the time of publication.


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