Genomic Research Continues To Go DTC

researchWay back in July I wrote about an emerging dimension in the DTC genomics space: direct-to-consumer genomic research. That article focused on the activities of 23andMe, and TruGenetics, which made a summertime splash by offering free genome scans to the first 10,000 individuals willing to contribute their genomic information to a commercial research database. While TruGenetics has since faltered, 23andMe continues to push DTC research forward.

Last month, at the American Society of Human Genetics (ASHG) meeting, 23andMe presented some of the first preliminary DTC research results. Daniel MacArthur of Genetic Future discussed 23andMe’s findings (emphasis in original):

. . . the major message from the talk is that 23andMe’s approach works in terms of generating genome-wide significant associations for complex traits: the company has successfully replicated a series of known associations with eye, skin and hair colour, for instance. More interestingly, 23andMe has also nailed down a handful of genuinely novel genetic associations: a massively significant association between an olfactory receptor region and “asparagus anosmia” (the inability to smell asparagus in one’s own urine), and two regions associated with hair curl.

These traits seem pretty trivial, but this is precisely the sort of area where 23andMe will be able to out-compete academic consortia, and these types of associations are also extremely (perhaps perversely) attractive to personal genomics customers; it’s just cool to be able to see the region of the genome that underlies a trait you can see in yourself, and to follow the inheritance of these traits through a family. These types of associations won’t contribute to clinical genetics, but they are likely to non-trivially boost 23andMe’s appeal to consumers.

This week, MacArthur is back with an update: 23andMe has been scooped. The preliminary results that 23andMe presented at ASHG relating to the genetic root of hair curl? Scooped by an Australian research time in this week’s issue of the American Journal of Human Genetics. MacArthur again:

In a sense this is good news for 23andMe, in that it’s good, independent evidence that the company’s novel associations are robust. However, it’s also bad news: not only has the company been scooped on the hair curl findings, but this is a clear illustration that there are few phenotypic niches sufficiently obscure for 23andMe to be able to work safely without worrying about competition from academic consortia.

What does all this mean for the future of DTC research? While I agree with MacArthur that DTC companies such as 23andMe are likely to have research competition from academia (as well as other DTC companies) even for seemingly trivial phenotypes, the validation of 23andMe’s research model, at least in this instance, strikes me as the more important point.

DTC genomic datasets offer several potential advantages over their academic counterparts: the ability to easily scale up to large numbers of participants, greater flexibility in altering genomic and (especially) phenomic data collection on the fly as new research questions emerge, and the infrastructure and expertise to return complex genetic information directly to participants.

Although 23andMe may have lost the race for the hair curl gene publication, it appears that they have taken an important step forward in their attempt to demonstrate the validity of the DTC genomic research model. But only as a research model. As noted by MacArthur and others, whether DTC genomic research is part of a commercially viable model remains to be seen.