Late last year, the European Commission kicked off a consortium aimed at developing third-generation DNA sequence analysis technologies with an initial lump sum of €12 million. The Revolutionary Approaches and Devices for Nucleic Acid Analysis consortium is composed of 10 academic institutions across Europe; several startup companies, including Oxford Nanopore Technologies; as well as larger entities such as Applied Biosystems and Philips Research. The overarching goal of the four-year effort is to develop third-generation sequencing technology capable of providing a full genome for less than $1,000 — but group leader Ivo Gut, director of the Centre National de Genotypage, would like the four-year project to eventually result in an even cheaper and more practical solution.
Gut hopes the consortium will lay the groundwork for low-cost, targeted tests that will help doctors determine whether a patient is more likely to develop a particular disease. "If you do a genome for $1,000, that's fantastic, but you're not going to take an individual and sequence them when they're born, when they're 10 years old, and again when they're 20 — we're not going to do that," Gut says. "But there are going to be events that are going to happen … you can think of somatic mutations due to cancers … and if you have to do that test once every year, you don't want it to cost $1,000. It has to cost a euro or dollar, and that's basically one of the things we're getting at."
The initial impetus for the consortium came from a call put out by the European Commission for the best and the brightest in sequencing tech development to get together and push third-generation sequencing into a widely available reality. Gut and his colleagues attracted attention for work they had done involving DNA analysis technology, transcript, protein, and cell-based work. "The way these consortia work is that you have to set up a group of scientists working in different European countries who are willing to stick their expertise behind one joint goal," he says, "so I put my head together with a couple of colleagues and we started involving this group of people that ended up with 10 academic partners."
If the project is extended beyond 2012, Gut hopes to have a method on hand that will allow him to sequence 2,000 individuals to full coverage per week. "Preferably not the way we do this nowadays, with -Solexa sequences or SOLiD sequences, but to sequence it on long range and then assemble the genome coming from that," he says. "This will make assembling a genome far easier … and you will have all the information — copy number variation, inversions, small deletions, small insertions — and you will see everything if you can do this. So that's the tool I want to have in my hands."
The big picture for Gut and other researchers in the consortium is not just a flash-bang third-generation sequencing platform, but the ability to bring all of this nucleic acid detection technology to the benefit of individual patients. The consortium plans to unveil its progress this March at the Third Paris Workshop on Genomic Epidemiology.