What's in a price point? When it comes to health care, it may very well be the difference between standard care and personalized medicine. San Diego-based Illumina Inc. announced it will begin shipping its HiSeq X Ten Sequencing System, which is capable of providing a $1,000 genome during the first quarter of this year. The significance of the new technology platform is that it will enable researchers to sequence tens of thousands of whole genomes in a single year from a single lab and thus will allow for population studies of unprecedented scale. The HiSeq X Ten delivers a $1000 genome, which includes DNA extraction, library preparation, and estimated labor for a typical genomics laboratory, among other features. The company lists the Broad Institute, a research institute in genomic medicine based in Cambridge, Mass.; Macrogen, a global sequencing service organization based in Seoul, South Korea; and the Garvan Institute of Medical Research in Sydney, Australia, among its initial customers.

“We expect the HiSeq X Ten to underpin a new phase of collaboration between government, industry, and other medical research stakeholders,” said Professor John Mattick, executive director of the Garvan Institute of Medical Research. According to Wired Magazine, the price point was reached faster than thought possible 10 years ago as the cost of sequencing a full human genome cost nearly $350,000 in 2008. “We believe the growth in consumer genomics and the use of genomic-based diagnostic assays will trigger a fundamental shift in the practice of medicine and the economics of the pharmaceutical industry and health care by facilitating an increased emphasis on preventative and predictive molecular medicine, ushering in the era of personalized medicine,” Illumina stated in its annual report.

What is Sequencing?

For any organism, the complete set of deoxyribonucleic acid (DNA) is referred to as its genome. An instruction set for all living cells is encoded in DNA, which contains small regions called genes, which in turn are made up of a chain of nucleotide bases, adenine, cytosine, guanine, and thymine (A, C, G, and T, respectively). These nucleotide bases are present in a precise order known as the DNA sequence. The company believes it has reshaped the economics of human genome sequencing. “Breaking the ‘sound barrier’ of human genetics not only pushes us through a psychological milestone, it enables projects of unprecedented scale. We are excited to see what lies on the other side,” Jay Flatley, CEO of Illumina, stated in a press release.

Eric Lander, a professor of biology at MIT and founding director of the Broad Institute, plans to to analyze complete genomic data for huge sample populations with the new technology. “Over the next few years, we have an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine,” he stated in the press release.