The Vision

For many years, Dr. George Church and his extremely talented Laboratory of scientists and engineers have been at the forefront of sequencing technology, including the recent development of second-generation methods. Their vision, as expressed in the Personal Genome Project, the development of the Polonator, and their recent formation of the X-Prize team, is quite simple: to deliver the benefits of second-generation sequencing technology to the largest possible base of potential users, as quickly and efficiently as possible. At Dover Systems, we are honored to be able to assist them in realizing this vision.

To usher in the dawn of truly personalized medicine, and accurately tease apart the confluence of factors determining human pathology, it will be necessary (albeit not sufficient) that large numbers of reliable, high-throughput second-generation sequencers be installed and operated. We have identified the upfront and recurring cost of second-generation sequencing as key factors inhibiting their rate of adoption, and have assiduously sought to drive these as low as possible. At the same time, throughput, accuracy, and reliability have been the focus of relentless development efforts.

A key differentiator in our approach to second-generation sequencing is our embrace of a flexible, open source development model. The system’s operating software is fully documented and freely available for public download, as are the protocols and reagent sets. All aspects of the system are fully programmable, with parameters and sequences accessible and modifiable by its users to improve and extend the instrument. In addition, all subsystems are highly modular and easily upgraded and/or retrofitted; as a result, we fully anticipate that the instrument will evolve and improve over time. We expect a worldwide user community to develop and flourish, advancing both the design and the operational specifics of the platform, from which all users in turn will benefit.

When it comes to second-generation sequencing, these are still very clearly “the early days”. The classical trajectory of any major new generation of technology follows a fairly predictable path: an initial phase, characterized by costly, less than completely mature products brought quickly to market; an intermediate phase, in which cost, performance, and reliability improve; and a commoditization phase, in which competitive forces drive the price down, while the performance and reliability converge, and approach the ideal. The Church Lab set the audacious goal of “tunneling through” the above trajectory, wresting a low cost, reliable, and high-throughput instrument forward by several years. From an upfront cost perspective, we have already succeeded. Our user community will shortly judge how well we will deliver on our remaining goals of recurring cost reduction, throughput, accuracy, and reliability.