Turning body fluids into data

Sparking Next Generation Discovery in Science and Medicine

DNA technology’s promise to improve health and save lives has remained elusive to many, due in large part to its cost.

Gene sequencing and DNA analysis systems that use traditional methods can cost more than $1 million, putting them out of reach for all but the largest institutions. Physicians and researchers must send blood or other bodily fluid samples elsewhere for testing, and results may not arrive for several weeks.

New methods of fast, accurate sequencing are under development, aptly known as next-generation sequencing technologies. These methods promise to be one of the key steps to making precision medicine a reality by being available — and affordable — to all. Next-generation sequencing relies on new uses of technology and, in some case, sophisticated silicon chips.

One of the companies developing next-generation sequencing technology is GenapSys, purveyors of a revolutionary method of DNA sequencing and protein detection. Their promise is a simple and streamlined device, not much bigger than a loaf of bread and less expensive than a new car, that can turn body fluid samples into meaningful data.

“The long-term proposition for this technology is really, really exciting,” Rob Tarbox of GenapSys says.

He envisions portable sequencers in every health care facility and clinic that wants one, with results available in hours rather than days or weeks. Diagnosis, analysis and selection of the right drugs for the right patient at the right time could all happen promptly, shaving precious time off treatment. And the system’s scalability and adaptability mean it can improve as technologies do.

The secret: a revolutionary, proprietary new sequencing method using computer chips instead of optical sequencing technology to analyze body fluid samples. Electrical sequencing simplifies and streamlines the process and gives users full control, letting them scale up or down — running a test first on a DNA fragment and then switching to sequencing an entire genome — simply by loading a new chip.

Here’s the process specific to GenapSys, Tarbox explains:

1. Library preparation and construction. A clinician separates the proteins in a sample of blood to isolate the DNA and then prepares it for sequencing.
2. Clonal amplification. The GenapSys sequencing prep system copies the DNA fragments to “amplify” them so they can be more easily and effectively read. Amplification is about a four-hour process.
3. Sequencing. The amplified proteins are transferred onto the desired chip for loading into the sequencer. The interface walks the user through the setup, and then sequencing begins. Results are available in about one day.
4. Analysis. The sequencer sends the raw data to the cloud in a format compatible with existing data-analysis software. (Learn more about how new approaches to memory can speed up genetic analysis in the cloud.)

Watch our interview with Rob Tarbox to learn how gene sequencing technologies are making precision medicine possible and accessible to more people.