In October last year I reported on a presentation by direct-to-consumer genetic testing company 23andMe at the American Society of Human Genetics meeting in Honolulu, in which the company described results of genetic association studies performed using combined genetic and survey data from their customers. The results of their study include replication of several known associations for traits like hair colour, eye colour and freckling, as well as the discovery of previously unpublished associations for things like asparagus anosmia (the ability to smell urinary breakdown products after eating asparagus) and photic sneeze (the tendency to sneeze when entering bright light).
This research has finally been published in PLoS Genetics, one full year after the manuscript was originally submitted to the journal on June 22, 2009. In a separate article, PLoS editors Greg Gibson and Gregory Copenhaver explain that this delay was due to six months of investigation into the issues of ethical review, participant consent and data access in the context of 23andMe's research. As a result of this process, 23andMe announced yesterday that all of its research will now be conducted under the auspices of a formal IRB.
In a post on her blog, 23andMe co-founder Linda Avey describes the publication as "historic", and I think this is no exaggeration. 23andMe has gathered an unique, actively engaged participant base of customers willing to contribute their data to the company's research efforts, many of whom (myself included) are excited to see their information being used to identify entirely novel scientific findings.
While it's easy to scoff at the traits assessed in this paper, the company is beginning to assemble a research base with growing power: the company tells us that of its 50,000 customers, 29,000 have participated in research surveys, enabling over 650 simultaneous genome-wide association studies. And because many of the company's customers are actively engaged, there's room for promising associations to be chased up with more detailed surveys and longitudinal studies. The power and flexibility of this approach would be the envy of many an academic researcher.
In a brilliant article on Google's Sergey Brin this week in Wired, Thomas Goetz illustrates the utility of the 23andMe approach with a simple example: a massive study of the association between glucocerebrosidase mutations and Parkinson's disease published late last year, the key finding of which was successfully replicated by analysis done by 23andMe on their Parkinson's recruits.
After a month of bad news for the personal genomics industry, it's good to be able to report something positive, and this certainly is positive: it's a demonstration of what can be achieved when research participants are given an opportunity to engage in research on their own data. I can only hope that academic research groups are paying attention, and thinking about ways they can leverage the same effects.
