PROVIDENCE – Sitting down to talk with Dr. Barrett Bready, the CEO of Nabsys 2.0, to discuss the breakthrough his firm has achieved with its genomic mapping technology was not an easy task.

First, there is actual definition of what the technology does: it is described as “the first long-range, non-optical mapping of whole human genomes using its high-definition electronic HD-mapping platform” to analyze structural variants, DNA changes typically larger than several hundred base pairs which are implicated in a wide array of diseases.

Are you lost yet?

Second, there are the distinct ways that Nabsys 2.0’s technology improves upon much of current genomic analysis: structural variants in genes are often difficult to identify using traditional sequencing techniques, because the short reads [known as “calls”] do not span the entire variant, according to Bready. While longer range optical mapping approaches may enable longer reads, their low resolution limits the ability to “call” the variants.

Are you lost and confused now?

Third, Bready talks in a rapid-fire delivery that often includes exacting scientific terms.

At one point, he leaned across the table at Small Point Café in Providence and drew an image on ConvergenceRI’s notebook to try and translate the concept as a logarithmic scale, to make sure that ConvergenceRI understood what he was saying.

If you have 10 to the zero power, representing one nucleotide, all the way up to 10 to the 8th power, he explained, the current technology is really only good for the first third of that spectrum, as he shaded in a third of the line.

At Nabsys, he continued, our technology is really good at looking at the other two-thirds of the spectrum, as he shaded in the other two-thirds of the line.

A variant of Moore’s law
When Nabsys first started, it was based on the notion that you could use semiconductor technology to read DNA molecules electronically, according to Bready. Since its reinvention in the fall of 2015, Nabsys 2.0 has returned to its original focus on using semiconductor technology to analyze genomic structure.

One of the distinct advantages of the Nabsys technology is the speed of the through-put of the computer analysis.

As John Oliver, the chief technology office at Nabsys 2.0, explained in the news release issued on Oct. 11, “Our maps are generated by analyzing very long DNA molecules, on the order of 100,000 base pairs. The DNA travels through semiconductor-based detectors at high velocity, over one million base pairs per second, while obtaining resolution superior to optical methods.”

As a result of this approach, Oliver continued, researchers can now look across whole genomes and analyze structural variation with the same sensitivity and specificity found in SNP [single nucleotide polymorphisms, pronounced “snips”] analysis. “This opens up the rest of the spectrum of genomic variation to systematic analysis,” Oliver said.

In contrast to the current optical technology, where the molecules have to be stopped to conduct the analysis, the Nabsys 2.0 technology allows for more speedy analysis, Bready explained in the interview.

Which means, that in the future, Nabsys 2.0 can improve upon its performance, its technology and its products.

Something like Moore’s law, ConvergenceRI asked, in which Gordon Moore had observed in 1965 that the number of transistors per square inch on integrated circuits had doubled every year since the integrated circuit was invented. Yes, said Bready.

To market, to market
The timing of the breakthrough results was propitious, according to Bready.

The recognition of the results occurred as part of the Genome in a Bottle consortium, a public-private-academic partnership hosted by the National Institute of Standards and Technology to develop the technical infrastructure of whole human genome analysis to clinical practice. Nabsys results were presented during a consortium meeting on Sept. 15.

Secondly, two relatively high profile scientific papers were published in the last two weeks, both of which concluded that short “read” technologies were not up to the task of analyzing structural variations for potential clinical applications, according to Bready.

“The market is in a very different place than it was two years ago,” Bready said. “A few years ago, it wasn’t even obvious that there was a problem,” adding that the story about the Nabsys 2.0 technological breakthrough was the most viewed story behind the pay wall at GenomeWeb.

Bready was reluctant to talk about specific strategies Nabsys 2.0 was pursing to bring the technology to market, to say the least. When asked about how that might play out in terms of licensing the technology or partnering with a larger corporation, Bready indicated that the future strategy Nabsys 2.0 would pursue was known.

“We know what we’re doing, but I’m just not ready to talk about it,” he said.

Bready then added, stressing that it was important for ConvergenceRI’s audience to know and appreciate the fact that this breakthrough work was being done in Rhode Island, specifically with a company located in Providence.