Thousand-dollar genome a reality

A big ambition for the genetics community for some years now has been to achieve the sequencing of a whole human genome for one thousand dollars. This goal has now been reached with the announcement that a new high-throughput sequencer, HiSeq X Ten, can sequence a complete human genome at a base cost below US$1000 - that’s roughly 6,000,000,000 base pairs.

Announced at the annual JP Morgan 32nd Annual Healthcare Conference in San Francisco, Illumina CEO Jay Flatley said that three of the sequencing platforms had already been sold - one system to Sydney’s Garvan Institute of Medical Research, another to South Korean genomics company Macrogen and a third to the Broad Institute of MIT and Harvard, which will use the platform in cancer genetics research.

The HiSeq X Ten sequencing system produces big data. Purposely built for use by institutions running large-scale sequencing projects, it is capable of sequencing around 350 genomes a week, or 18,000 a year.

Garvan’s acquisition will allow a massive increase in human genome sequencing capacity in Australia and possibly the region.

“I believe we have reached a tipping point where genome sequencing has become achievable on a broad scale,” said Professor John Mattick, executive director of Garvan. “Just over a decade ago it cost over a billion dollars to sequence the first human genome.”

Mattick said they plan to use the system for large-scale research projects and problem-dependent diagnostics, such as the routine analysis of cancer biopsies and people with genetic disorders. They also plan to begin the analysis of genomes of people with conditions such as diabetes and Parkinson’s disease.

“The initiative must be undertaken at a national level - and in collaboration with international partners, as it will need massive global databases to support interpretation of the data,” Mattick said, adding that they hope to develop a national alliance for delivering genomic medicine in Australia through partnerships with other research institutes as well as state and federal governments.

Associate Professor Marcel Dinger, head of clinical genomics at Garvan and leader of the bioinformatics team charged with interpreting and managing data, said: “Generating DNA sequences will be less of an issue than analysing them in a way that is meaningful to clinicians, so we are putting a lot of effort into transforming the primary data into clinical grade reports.

“It is an enormous task, one that can only be undertaken by a leading-edge research institute with a mission to bring research advances rapidly to patients. It will also enable us to partner with similar efforts internationally.”