Reminiscing

Today marks an historic day for 23andMe (or, should I say, 23andWe?). A paper out today in PLoS Genetics represents a potential sea change in the way genetic studies can be conducted. At least when it comes to 'consumer genetics', a new research model that directly involves the 'human subject' element of research is making its scientific debut. (And in a journal with open access so anyone can read it!)

A seminal component of genetics research is, and has always been, the so-called human subject, a real, live person who contributes his or her highly valuable information (typically in the form of a biological sample in combination with some level of phenotypic data) to a study protocol. By examining the molecular components of these samples, scientists have been attempting to correlate genetics to biology in a measured, highly-controlled environment, in keeping with the traditional approach to academic research. By establishing, and sometimes vociferously defending, the firewall between the subjects and themselves--with an intervening IRB-approved consent form typically guaranteeing no personal benefit back to the participants--researchers have been absolved of, or disallowed, as the case may be, any responsibility or ability to communicate directly with their subjects (sounds almost feudal, doesn't it?), as if post-study phenotypic details are irrelevant to the task at hand. Resulting data are often 'de-identified' to further remove any connection back to said patient. And, heaven forbid, data from these studies rarely get back to the person from whose precious sample these discoveries were derived. (Augie Nieto's ALS story in the Wall Street Journal points out this conundrum. Another gripping read about patient sample use is Rebecca Skloot's "The Immortal Life of Henrietta Lacks".)

The 23andMe research model is precisely what motivated the company's formation. It arose from a frustration (not just mine) that scientific progress wasn't happening fast enough. Funding, often in the form of federal grants, was, and still is, hard to come by and is a painfully slow process. Obtaining large enough sample cohorts, in order to achieve statistically relevant findings, is another huge hurdle and can take years of painstaking labor. Even so, the information so carefully gathered during this process can be quite limited. Recontacting subjects has to be consented up front, and is expensive and time consuming to a point where it's often scrapped.

My time spent at Perlegen brought these issues into high focus. Indeed, they were what drove our CEO at the time, Brad Margus, to run an ad in Science, inviting any researcher who had assembled a significantly large sample cohort to work with us on a joint study (we'd find the money to get it done). We got one response. One! As luck would have it, that ad led a collaboration with Mayo Clinic and one of the earliest 'genome-wide association studies' (GWAS) of Parkinson's disease. We were funded by the Michael J. Fox Foundation, and through them I met Sergey Brin from Google (aka Anne Wojcicki's husband!), whose interest in Parkinson's has since been well publicized and is covered in a new Wired article by Thomas Goetz. The interaction with Sergey sparked a connection that would form a bond with my partner-in-crime, Anne, who was just as frustrated and bent on change. And the rest, as they say, is history.

What we envisioned four years ago--an online community where individuals get to interact directly with their own genetic data, share it however and with whomever they choose and answer whatever research surveys suit their fancy--is alive and well. Today's PLoS article is just the beginning. As highlighted in this 23andMe blog post, there are currently 650+ genome-wide association studies being conducted in 23andMe's digital, virtual lab, with over 29,000 people (not subjects!) actively participating. No doubt there will be snarky comments about some of the initial phenotypes that are producing these new discoveries (do YOU smell it?)--but that's not really the point. What matters is that innovation in this field IS possible, all because of the very people who are opting in to a whole new way of knowing themselves.