Merging Nanopores, DNA Sequencing and Cost

The day when a cost efficient technology for reading and sequencing DNA is available may be closer at hand. Intense research is focused on refining the most promising techniques. While IBM’s DNA Transistor Technology is in the forefront, efforts at Oxford Nanopore, Sandia National Labs and elsewhere are validating the trend.

The goal is to reduce costs to where an individuals’ complete genome can be sequenced for between $100 and $1,000. Once this becomes a reality the impact could be so significant as to create a brand new generation of health care capabilities. While there is no way to predict exactly how fast this technology will become available to the average researcher, Manfred Baier, head of Roche Applied Science maintains an optimistic position:

“We are confident that this powerful technology…will make low-cost whole genome sequencing available to the marketplace   faster than previously thought possible”

The technology involves the creation of nanometer sized holes in silicon based chips and then drawing strands of DNA through them. The key rests with forcing the strand to move through slowly enough for accurate reading and sequencing. In this case researchers have developed a device that utilizes the interaction of discrete charges along the backbone of a DNA molecule with a modulated electric field to trap the DNA in the nanopore. By turning these so named ‘gate voltages’ on and off scientists expect to be able to slow and manipulate the DNA through the nanopore at a readable rate. The effort combines the work of experts in nanofabrication, biology, physics and microelectronics.

A clarifying cross-section of this transistor technology has been simulated on the Blue Gene supercomputer. It shows a single-stranded DNA moving in the midst of (invisible) water molecules through the nanopore.

No matter how long it takes for the technology to become a cost-effective reality, it will be a true game-changer when achieved. While researchers express both optimism and caution on the timing, there is one inevitable result for which keen observers in related fields are preparing. When peoples’ individual genetic codes can be economically deciphered and stored, the amount of data generated will be massive. The consequent demands on data storage, mining and analytics will in turn generate their own new challenges.

Using the huge influx of new data to make more informed life science decisions is a key, long-range benefit of the current research efforts in sequencing technology. In health science alone revolutionary new approaches are expected to allow:

  • Early detection of genetic predisposition to diseases
  • Customized medicines and treatments.
  • New tools to assess the application of gene therapy
  • The emergence of DNA based personal health care

An equally critical benefit is the potential cost savings expected when sequencing technology, data storage and advanced predictive analytics combine allowing truly preventive medicine to take its place as the new foundation of health care.