$100 Genome by Linear Imaging Sequence Analysis
Combine a novel gene sequencing chemistry with an advanced nanofluidic device suitable for mass production to develop a platform technology that can sequence an entire human genome in under eight hours at a cost of less than $100.
Sponsor: BioNanomatrix, LLC3624 Market St
Philadelphia, PA 19104
The joint venture team of BioNanomatrix and Complete Genomics, Inc. (Sunnyvale, Calif.) has proposed developing a breakthrough technology for genome sequencing that combines a novel sequencing chemistry with an advanced nanofluidic device suitable for mass production. This target technology would make it possible to sequence an entire human genome in under eight hours at a cost of less than $100. The original Human Genome Project required years of research and hundreds of millions of dollars to produce a reference sequence of the entire human genome. Since then, new technologies have significantly reduced sequencing time and cost, but the cost of sequencing the roughly three billion base pairs in the human genome is still above $100,000, too high for routine clinical use. The joint venture is developing a novel DNA sequencing process that can "read" long sequences of 100,000 base pairs or more with high accuracy using a system of fluorescently-labeled chemical "keyword" probes specially designed for long DNA molecules and an innovative nanofluidic device with tiny fluid channels. The device is designed to allow efficient analysis of millions of DNA molecules by stretching and funneling each molecule into the narrow channels in a massively parallel fashion. Major technical challenges include achieving the necessary accuracy while keeping the total cost of reagents and materials below the $100 target, as well as achieving data reading and processing speeds high enough to meet the eight-hour target. If successful, a $100-genome technology would transform genetic analysis, delivering at a stroke more diagnostic information for each patient than all the genetic tests available today, at a fraction of today's costs. By condensing a wide range of genetic tests into a single, cost-effective platform, the technology would for the first time make personalized medicine feasible, enabling improved diagnosis and treatment of a wide variety of health conditions, as well as the ability to practice individually-tailored preventive medicine. The $100-Genome also would have important applications in medical research and drug development.