New Gene Machine Could Mean More Accurate Diagnosis

A new super computer with faster sequencing capabilities could lead to better diagnosis, expert says.

A new supercomputer can sequence 20,000 genomes in a year for $1,000 a piece.
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Illumina, a global company that specializes in genomic analysis, announced on Jan. 14 the sale of a new "factory-scale" genetic sequencing machine that makes sequencing more affordable than existing technology.

"The HiSeq X Ten is the world's first platform to deliver full coverage human genomes for less than $1,000, inclusive of typical instrument depreciation, DNA extraction, library preparation, and estimated labor," noted a release from Illumina.

The "$1,000 genome" is a long-sought marker of advancement that the genetics industry has seen as "a tipping point in the pace of genetic discovery" said Aaron Kroll at BioITWorld.

The new technology was tailor made for scientists and institutions involved in population-scale human whole genome sequencing. The company believes the equipment can aid in the discovery of genotypic variations and improve scientists' knowledge of genetic disease. The machine itself costs $1 million; however, the cost of sequencing the whole genome is $1,000, considerably less than what had been previously available. The machine can only be purchased in bulk quantities of 10 or more.

"The ability to explore the human genome on this scale will bring the study of cancer and complex diseases to a new level," Jay Flatley, CEO of Illumina, said.

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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 doctors' 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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Francis Collins, director of the National Human Genome Research Institute, likened the genome to a book.

"It's a history book – a narrative of the journey of our species through time. It's a shop manual, with an incredibly detailed blueprint for building every human cell. And it's a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease," he said.

The Broad Institute in Cambridge, Mass., is one of Illumina's first customers. The Garvan Institute of Medical Research in Sydney, and Macrogen, a gene sequencing service based in Seoul, have also placed orders, reports HPC Wire.


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Corrected on 01/21/14: A previous version of this story confused the new HiSeq X Ten with the Next Seq 500, another sequencer that was also released by Illumina on the same day. Additionally, the price of the HiSeq X Ten was listed incorrectly.