San Diego gene sequencing company Illumina has announced that it expects its newest machines to bring down the cost of sequencing a human genome from about $1,000 to about $100 — though it could take anywhere from three to 10 years to get there.
On Monday, CEO Francis deSouza introduced the new machines at the J.P. Morgan Healthcare Conference in San Francisco. Illumina made a similar announcement at the same conference three years ago, promoting the possibility of sequencing a genome for as little as $1,000.
In a press release, deSouza said the company believes their new machines, "one day will enable the $100 genome and propel discoveries that will enable a deeper understanding and better treatments for complex disease."
The sequencers aren't yet capable of mapping a person's DNA for $100, but genomics experts are anticipating significant savings.
"They've redesigned the instrument so that we can use the same chemicals but at a much cheaper cost, so that we can generate much more data for the same price," said Kristen Jepsen, director of the UC San Diego IGM Genomics Center, which carries out sequencing for many local research projects.
Based on what Illumina has announced so far, Jepsen expects cost savings of as much as 40 percent right off the bat. And unlike previous Illumina models that were sold in bundles that cost millions of dollars, the machines will be available individually for less than $1 million each.
San Diego-based Human Longevity, Inc. will be among the first customers to buy Illumina's new machines. Co-founder J. Craig Venter says the updated technology will help his company reach its goal of sequencing more than a million genomes.
"Every three years, almost like clockwork, there's a new technology that makes the previous technology redundant," Venter said of Illumina's new platform.
"It allows us to sequence faster with a lot more flexibility and with the promise of the cost going way down over the coming years."
Venter thinks the $100 genome is still a ways off — he predicts that three years from now, the true cost of sequencing will likely be around $500. But he says today's costs already pale in comparison to the cost of mapping his own DNA as part of a massive research effort at the dawn of human genome sequencing.
"The first one was $100 million dollars, so this is pretty good progress," Venter said.
Even at $100 per genome, the raw costs of sequencing are only a baseline for the total costs of making sense of that genome.
For instance, UC San Diego researcher Elizabeth Winzeler says she and her family members had their genomes sequenced on Illumina machines as part of a colleague's research project at a cost of about $1,000 each. But that only resulted in hard drives full of raw data.
If Winzeler wanted to analyze that data to gather new insights about her DNA or inform medical care for her family, the process would be time-consuming and require lots of expertise.
"I could see this ending up in doctors' offices in 20 years, but we'd need the bioinformatics to accompany it," said Winzeler.
