Amazing Science

Rapid, accurate genetic sequencing soon may be within reach of every doctor's office if recent research from the National Institute of Standards and Technology (NIST) and Columbia University's School of Engineering and Applied Science can be commercialized effectively. The team has demonstrated a potentially low-cost, reliable way to obtain the complete DNA sequences of any individual using a sort of molecular ticker-tape reader, potentially enabling easy detection of disease markers in a patient's DNA ("PEG-labeled nucleotides and nanopore detection for single molecule DNA sequencing by synthesis").

Genia Technologies is collaborating with scientists at Columbia University and Harvard University to develop a commercial single-molecule sequencer. The company has licensed a nanopore sequencing-by-synthesis technology developed by researchers at Columbia and the National Institute of Standards and Technology, which it plans to integrate with its nanopore chip platform, and is using polymerase fusion proteins developed at Harvard.

Genia plans to ship its first nanopore sequencing device to beta customers by the end of next year, and to bring a commercial product to market in 2014.

While sequencing the genome of an animal species for the first time is so common that it hardly makes news anymore, it is less well known that sequencing any single individual's DNA is an expensive affair, costing many thousands of dollars using today's technology. An individual's genome carries markers that can provide advance warning of the risk of disease, but you need a fast, reliable and economical way of sequencing each patient's genes to take full advantage of them. Equally important is the need to continually sequence an individual's DNA over his or her lifetime, because the genetic code can be modified by many factors.

Nanopores and their interaction with polymer molecules have been a longtime research focus of NIST scientist John Kasianowicz. His group collaborated with a team led by Jingyue Ju, director of Columbia's Center for Genome Technology and Biomolecular Engineering, which came up with the idea for tagging DNA building blocks for single molecule sequencing by nanopore detection. The ability to discriminate between the polymer tags was demonstrated by Kasianowicz, his NIST colleague Joseph Robertson, and others. Columbia University has applied for patents for the commercialization of the technology.

Kasianowicz estimates that the technique could identify a DNA building block with extremely high accuracy at an error rate of less than one in 500 million, and the necessary equipment would be within the reach of any medical provider. "The heart of the sequencer would be an operational amplifier that would cost much less than $1,000 for a one-time purchase," he says, "and the cost of materials and software should be trivial."