DNA Perspectives

A while back I discussed a Nature editorial calling for a public registry of disease-gene associations. This would provide potential consumers with objective information about the scientific evidence underlying commercial gene tests, helping them to make an informed decision amidst the hype, overstated claims (and occasionally sheer lunacy) that unfortunately characterises a large swathe of the genetic testing industry at the moment.

I think a broadly-backed international genetic association registry would be a fantastic resource, whether it is built on the foundations of an existing model such as SNPedia or (more likely) assembled from scratch. However, it's unlikely that a single monolithic registry will emerge: rather, we'll probably see an array of competing databases, some with official backing, some Wikipedia-like community-based annotation projects, and more than a few set up by genetic testing companies themselves. Consumers will certainly have more access to information on genetic associations, but it will unfortunately be hosted by a plethora of organisations with different goals and target audiences.

At Eye on DNA, Hsien-Hsien Lei points to a new initiative called DNA Perspectives. DNA Perspectives is funded by DNA Direct, Hsien's employer (as Hsien is commendably scrupulous in pointing out whenever the topic arises, I should add). The aim is to develop "a collaborative site developed by a wide range of industry experts to objectively evaluate the clinical validity and utility of genetic markers as well as commercially available genetic tests" - an admirable goal.

DNA Perspectives will be based on annotation by invited experts in genetics, with all information freely available to the public, and a forum for consumers to add their comments and personal ratings. I think this model is a good one, treading the line between the semi-structured anarchy of free-for-all community resources like Wikipedia and the slow-moving, cumbersome centralised bureaucracy of many official databases (there are plenty of other viable models, of course). However, it will be interesting to see if it can overcome two potentially major obstacles.

The first is community apathy, which I think will be familiar to anyone working in an expert-curated database who has tried to recruit researchers to annotate material. Return rates tend to be low, and most experts who do visit the site will make perfunctory corrections at best. The problem is basically that most experts are busy people - writing grants and papers will always be a higher priority than annotating a database, which is a considerable effort that typically has minimal (or zero) pay-off. (I write this rather guiltily, looking back on my seriously mediocre track record of participating in such efforts.)

The second problem is the overt link to a genetic testing company. No matter how hands-off DNA Direct attempts to be, there will always be a conflict of interest when the body running a genetic association registry is simultaneously relying on sales of genetic tests to pay the rent. DNA Direct certainly appears to be one of the most evidence-based genetic testing companies out there, so it hopefully doesn't have much to hide - but nonetheless, if an expert reviewer offers a scathing critique of a test that DNA Direct offers, how will the company feel about hosting that review on its own server space? Even if the company fastidiously avoids censoring the reviews, it will always be very hard to overcome consumer perceptions of bias.

Ultimately, potential genetic testing customers will probably feel much more comfortable sourcing their information from a registry with no financial ties to the testing industry. I also suspect that expert reviewers will also be easier to attract to a database backed by major funding bodies and research institutions, who can offer both the small carrot of officially-sanctioned kudos for their efforts, and (potentially) the more effective stick of making funding partly conditional upon participation in the review effort.

Of course, at this stage no such official and comprehensive registry exists - and while I don't think it's the ultimate solution, DNA Perspectives is at least a step in the right direction at a time when consumers are desperate for guidance through the murky waters of the DTC genetic testing field. I look forward to seeing how it progresses.

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