personal genomics

The latest issue of Nature is just as it should be: nearly wall-to-wall human genomics, with a special focus on personal genomics (more on that later). The main event is a potential historical milestone: quite possibly the last two papers ever to be published in a major journal describing the sequencing of single human genomes from healthy individuals1. The papers, which both appear to be open access (kudos to Nature for that decision) describe the analysis of the first Asian genome by researchers at the Beijing Genomics Institute, and the sequencing of the first African genome by a cast of…
One of the ethical quandaries raised by direct-to-consumer genetic testing is the possibility that customers may send in DNA samples for analysis from other people who haven't provided informed consent - prospective spouses, for instance, a la Gattaca - and then use that genetic information for nefarious purposes. In the past, personal genomics company 23andMe has responded to this possibility by arguing that it's not really the company's responsibility to prevent its customers from performing illegal acts; they have also (quite convincingly) pointed out the difficulties of extracting 2 mL of…
Over at Think Gene, Drew Yates has a fine rant about the notion that using unsupported genomic information to make medical decisions is better than simple voodoo.
Navigenics has announced in the industry publication In Sequence (subscription only) that it plans to add gene sequencing to its personal genomics service. This would make it the first of the "Big Three" personal genomics companies (Navigenics, 23andMe and deCODEme) to offer analysis of rare as well as common genetic variants. The move into sequencing has always been inevitable for the personal genomics industry. Currently all three of the major players in the affordable personal genomics field (as opposed to Knome's high-end service) use chip-based technology to analyse up to a million…
Lots of bloggers in the DNA network have been busy these past few days writing about Google's co-founder Sergey Brin, his blog, his wife's company (23andme), and his mutation in the LRRK2 gene. I was a little surprised to see that while other bloggers (here, here, here, and here) have been arguing about whether or not the mutation really increases the risk to the degree (20-80%) mentioned by Brin, no one has really looked into the structure and biochemistry of the LRRK2 protein to see if there's a biochemical explanation for Parkinson's risk. I guess that task is up to me. Let's begin at…
Google co-founder Sergey Brin has discovered that he carries a genetic variant associated with a fairly serious increase in Parkinson's disease risk. Brin found out about the variant through a 23andMe genome scan (Brin is married to 23andMe co-founder Anne Wojcicki, so I'm sure he gets to play with the company's toys as much as he wants). He announced his result on his new personal blog, TOO; 23andMe's blog The Spittoon has some additional details. The variant in question is a mutation called G2019S in the LRRK2 gene, which has been reported in a large number of families with members…
Yesterday I discussed the decision of personal genomics company 23andMe to slash its price for a genome scan by 60%, to under $400. In the comments to that post, industry observer David Hamilton pointed me to an article he's written for BNET on the implications of 23andMe's price plunge, which (like everything he writes) is well worth a read. Hamilton has long argued, quite compellingly, that the true business model of personal genomics companies relies only indirectly on selling genome scans to consumers: ...personal-genomics companies don't intend to make money by selling the tests.…
23andMe is one of three companies currently providing chip-based personal genomics assays, which provide information about up to a million sites of common variation throughout the human genome. These companies provide insight into a limited but informative slice of your genetic diversity, as I discussed yesterday, giving you information about variants contributing to the risk of a number of common diseases and other traits. Since their launch earlier this year, 23andMe and competitor deCODEme have offered their genome scan services for a fraction under $1,000. Now 23andMe has announced a…
This little USB drive represents the current pinnacle of luxury personal genomics. It's the product of Knome (pronounced "know me"), a Cambridge, MA-based biotech start-up fronted by genomics pioneer George Church (recently profiled in Wired). In return for $350,000, Knome's customers receive a shiny 8 Gb drive containing their entire genome sequence (or rather, a hefty fraction of it), along with specialised browser software for viewing it. $350,000 is a hell of a lot of money to fork over for a few gigabytes of data. So, how much of a return will these customers be getting on their…
Are you curious about Second Life? Next week you can satisfy your curiosity and learn about the personal genomics frontier at the same time. Bertalan Meskó announced that Erin Davis (science writer) and Joyce Tung (human geneticist) from 23andMe will be giving a presentation next week in Second Life on personalized genetics. As travel costs rise and traveling becomes harder, I think we'll see many more things happening in alternative places like Second Life. Virtual environments like this can make on-line communication entertaining in ways that conference calls and webinars can't. I may…
The genie is out of the bottle. Personal genomes are not just for Venter and Watson anymore. Three competing companies, 23andme, Decode, and Navigenics are betting that you want to do a little better than reading your horoscopes and playing with tea leaves. They think that you want to know something about your destiny and take control of your future. And when I look at the 23andme web site, I want it, too. I want it so badly, it makes me drool. But is it really such an unequivically good thing? There's been a long-standing debate between companies and at least some scientists and the…