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Next month, the group is expected to release a project plan. Observers are eager to learn its answer to a key question: how much information about disease risk, especially genetic data, will the project share with participants?
That issue is the subject of much debate. Dishman and others say that participants should at least have the option to see all their personal data so that they can investigate their own health, just as he did. But some specialists in the field say that showing participants their data is irresponsible, because the information is challenging for people to interpret and its significance is often uncertain.
Most genetic variants linked to disease increase risk only slightly, yet people who discover that their genome holds such a variant might worry excessively or seek unnecessary medical tests. Or they might do nothing: the limited research on how people react suggests that, far from causing panic, information about common variants of small-to-moderate effect does not seem to motivate people to make recommended long-term behavioural changes to lessen risk. “Unless you give people the tools and the skills to deal with the raw data, I don’t see how you could give them the raw data,” says Brian Van Ness, a geneticist at the University of Minnesota in Minneapolis.
Years ago I had a short conversation with Mike Snyder where we discussed the fact that for human genomics to become useful there had to develop a culture of openness and ubiquity of data. That is, you need huge sample sizes and lots of information on those samples. Several years ago I elaborated some of my views with an essay in Genome Biology, co-written with my friend David Mittleman, Rumors of the death of consumer genomics are greatly exaggerated. The point is that the gains to genomics, and what is now being called “precision medicine”, is really going to occur when there is widespread adoption of sequencing and comfort among the populace with analyzing the intersection of the sequence data with phenotype data. That is, there are returns to scale. But all this sounds very “Brave New World” to people, and they are not comfortable with it. Yet. One way to make people more at ease is to give them some “ownership” of the process. They may never analyze their raw data, but they’ll have it, forever. Or, they may analyze it with third-party tools such as Promethease. Ultimately personal genomics needs to be personalized, and if you lock the data behind gates, that totally undermines the message.
Second, I think on normative grounds one can say that it is not ethical and right for researchers to withhold your own sequence when they are attempting to do research with your data. After all, they are making gains career wise with your own information, your raw data. It strikes me as unjust that they’d withhold that data because you might not do the right thing with it. That it’s up to them to decide when you can see information on your own body. There is perhaps a place for paternalism on some issues, but in the generality this is not one hill that I think many geneticists will die on. Those who stand athwart history are going to look foolish in hindsight.