New Gene Machine Could Mean More Accurate Diagnosis

A new supercomputer can sequence 20,000 genomes in a year for $1,000 a piece.

On Tuesday, Illumina, a global company that specializes in genomic analysis, announced the sale of a new genetic sequencing machine, that is faster and more affordable than existing technology.

"The new sequencer packs high-throughput performance into an affordable desktop form factor, enabling researchers to perform the most popular sequencing applications in less than a day,"said Jay Flatley, CEO of Illumina in a press release.

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The new technology can sequence a whole human genome in a single run. And the sequencing data can be fed through open source or commercial programs or transferred, analyzed and stored in a secure space, the release noted.

The new machine can sequence 20,000 genomes in a year for $1,000 a piece, says HPC Wire. It can process 16 complete human genomes in three days. The "$1000 genome" is a long-sought marker of advancement that industry has seen as "a tipping point in the pace of genetic discovery" says Aaron Kroll at BioITWorld.

Dr. Gianrico Farrugia, director for the Center for Individualized Medicine at the Mayo Clinic, says that the new machinery's reduced cost and its ability to do large-scale processing will affect the reliability of doctor's results. When testing a person's genome having a larger data set to compare anomalies with will allow doctors to rule-out false positives that can sometimes occur when the pool of comparison data is too small. Doctors need to be certain that "what we call as abnormal is in fact abnormal," he says.

"So, being able to do this significantly larger scale sequencing at a lower cost allows you to collect information that you can apply to your individual patient, because you have more information," he adds.

Farrugia says he knew that the technology was being tested, but didn't know when it would be available. He's excited to try out the new machines and apply them to patient care. The first full human genome sequence was published in April 2003 for $3 billion, according to HPC Wire.

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New Gene Machine Could Mean More Accurate Diagnosis