Posts Tagged personalized medicine
“Solving the Challenges of DNA Sequencing for Molecular Diagnostics” talk by Stefan Roever, CEO, Genia Technologies
Stefan Roever (www.geniachip.com) began his talk (at http://www.bio2devicegroup.org) by affirming that in the future, without a doubt, molecular diagnostics will be dominated by DNA sequencing. Sequencing will be everything, said Roever. Using the blood test analogy, where when RBC count is needed, the physician might likely order a comprehensive profile, similarly in future, complete sequencing might be ordered. The high cost however, remains a big challenge. At the current cost of $50K to $100K for a sequencing instrument, the Molecular Diagnostics (MDx) industry cannot scale to support the vision of personalized medicine by complete gene sequencing. Without scale, there is little standardization as the existing companies use many different platforms. The existing DNA sequencers utilize a complex workflow and rely on complicated optics or amplification, which does not lend themselves to clinical utility.
Genia uses standard semiconductor technology that can enable massively parallel, single molecule DNA sequencing, that is highly accurate. Genia’s key proprietary innovations around the nanopore allow single molecules of single stranded DNA, to move through the pore slowly, so the sequence can be measured accurately. This single molecule, electrical, real-time analysis can be done without the need for complicated optics, labels, amplification, or fluidics. There are therefore, no amplification errors and it is better for rare event detection, like infectious disease. Genia’s technology also offers the ability to re-read. Genia’s key proprietary innovations, its automated bilayer pore setup, allows for scalability and ease of use. Also Genia’s IC achieves 30fA noise preference so the sensor itself is truly transformative and allows very small electrical signals (~0.2 pA current levels) to be seen high above the noise floor. This is a key challenge that many other nanopore companies are currently struggling with. The data shows that with highly accurate analog electronics and clever data analysis techniques, single base discrimination is possible, and adequate SNR can be reached to perform DNA sequencing. Genia’s mission is to “unify Moore’s Law with biotechnology to make genetic information universally available”, said Roever. By developing a true integrated circuit on standard semiconductor process technology, Genia is hoping that it will revolutionize the world of DNA sequencing.