First, it was self-described 23andMe investor Martin Varsavsky who spilled some early information about the secretive personal-genomics startup founded by Sergey Brin‘s new wife, Anne Wojcicki, and now backed by Google and Genentech. (See our coverage here.) Now more details about 23andMe’s plans to help individuals map their own genomes are emerging, courtesy of Illumina, a gene-scanning company partnered with the startup.
The fundamentals aren’t too different from what Varsavsky has described previously. 23andMe customers will take a DNA sample — Flatley suggests it could involve either saliva or a cheek swab — and send it in to Illumina for genotyping. Instead of scanning the whole genome letter-by-letter, Illumina’s microbead-based scanners detect hundreds of single-letter DNA variations that give a useful but rough approximation of what the full genome would look like. (The upside is that scanning for these variations, technically known as single-nucleotide polymorphisms, or SNPs, is far faster and cheaper than reading through the entire genome.) 23andMe would then throw that information up on a secure Web page, where users could then analyze it to their hearts’ content.
Flatley said 23andMe’s initial emphasis will be on ancestry, although it seems likely that disease-related SNPs are also likely to get a lot of attention, particularly given how scientists have successfully used similar gene scans to identify dozens of disease-related SNPs over the past year. (See our previous coverage here.) Flatley said he’s already tried out the service and now keeps his own genotype on his iPhone, although he didn’t say much about what he learned from it — in sharp contrast to, say, Craig Venter.
Perhaps most interesting, Flatley then passed out sign-up cards for 23andMe and said anyone who registered on the spot could get the service for free, although Herper doesn’t say how many folks took him up on the offer. According to Flatley, 23andMe will start to show off their software over the next few months — which will be none too soon, given that at least one competitor, Navigenics, is also on the march. (Our coverage is here.) Rumors of yet a third, still stealthy, personal-genomics startup are also swirling around the Valley.