Any disease that gets the required number of patients (currently 1,000) will then be the subject of an association study performed by the company’s scientists, using the genetic data from the assembled patients and controls.
It’s worth taking a closer look at the reduction in content
available from the Research Edition product compared to 23andMe’s full service. While the cost saving is impressive (75%), you also lose several of the features that are probably of most actual value: for instance, results for all of the rare, severe disease mutations on 23andMe’s custom chip (i.e. carrier testing), as well as all facets of ancestry testing. Perhaps most importantly for genomics enthusiasts, you also lose the ability to download your raw genetic data, preventing you from running your own analyses or using third-party software such as Promethease
. In general I’d argue that new customers are still better off going for the full service than this stripped-down version, but I think the magical sub-$100 price tag will probably have a very positive effect on sales.
Will it generate novel associations?
Let me be perfectly frank – it’s unlikely that a genome-wide association study with only 1,000 patients will reveal any novel genetic associations, especially for those diseases on the list that have already been subject to substantially larger, well-performed studies (e.g. psoriasis, rheumatoid arthritis, testicular cancer, celiac disease). There are also some serious doubts about the noise introduced by including individuals in a case-control study on the basis of self-reported disease status. In summary, I would be surprised if any of these early studies generate results that contribute in any meaningful way to genetic research.
So if this was simply aimed at recruiting 1,000 patients for each of 10 common diseases, it would be largely an exercise in futility. However, 23andMe’s goals are clearly far beyond this: they aim to build stable, self-sustaining communities of potential research participants, that add new members over time and are available to add further trait data (for instance, to answer more detailed questions about disease progression) and also to engage in more sophisticated genetic tests (up to and including whole-genome sequencing, eventually).
Will this attempt work? I’m a believer. If 23andMe can recruit a solid core of patient advocates for a specific disease, those advocates then have a strong incentive to recruit further participants: increased numbers increases the probability of getting solid results for association studies done in their disease. As patient cohorts get ever larger and 23andMe’s analysis becomes more sophisticated, there’s every reason to expect that this approach will eventually yield the power required to generate novel associations.
If 23andMe’s business model holds up – or, perhaps more to the point, if Google is happy to continue propping the company up – for the next few years, I wouldn’t be shocked to see this research model eventually gather larger cohorts than even the largest academic consortiums, particularly for less common diseases with particularly strong grass-roots activists.
Implications for academic researchers
It’s easy to be cynical about 23andMe’s motives in launching this initiative – this is, after all, a profit-making exercise rather than a research charity – but I suspect that many academics will be watching 23andMe’s progress in this venture with considerable interest. Modern genomics studies require mind-bogglingly large numbers of samples to achieve the power required to find subtle genetic associations, and recruiting those numbers of patients is far from easy. If 23andMe’s model proves successful in recruiting and maintaining large communities of patients, I suspect large academic consortia will at least begin to consider the possibility of pursuing similar approaches.
That actually puts 23andMe in a potentially lucrative position. In order for academic consortia to pursue the 23andMe model, they need to be in a position to return comprehensive results from genome scans to their patients and controls. However, providing such complex information to a lay audience is extremely difficult, and probably beyond the means of most academic groups. That means (as I noted back in March
) there’s a potentially massive possible market for 23andMe here in providing a mediation service for returning research data to patients, and for providing the resources required to keep participants engaged actively in the research community.
But regardless of whether companies like 23andMe end up being physically involved in this mediation process, I’d suggest that academics need to take heed of the model the company is pursuing. It’s likely that over the next few years the current model for returning research data to participants – i.e. don’t – will become increasingly unpopular with potential research subjects, and indeed I’d argue that this model has always bordered on the unethical. Finding realistic ways of presenting large-scale genetic data to research participants is something that academic researchers will need to sort out soon, one way or another – and those that do it well, I suspect, will find it much easier to recruit and maintain their research cohorts.