Gina Kolata has a new piece in The New York Times, In a New Approach to Fighting Disease, Helpful Genetic Mutations Are Sought. The gist is pretty straightforward: some people seem to have compensatory mutations which can mask the effects of well known deleterious variations. So, the man who is the focus of the article has a variant well known to result in early onset Alzheimer’s disease. In fact, this has been the case in his extended pedigree. But he does not exhibit any symptoms into his 60s. But this part caught my attention:
Now, a year later, “we are in this interesting place between excited and frustrated,” Dr. Friend says. They analyzed data from over 500,000 people and found 20 who seem to be protected from a fatal disease. But because of privacy issues there were no names attached to the data.
Four of the subjects are in China. Dr. Schadt and Dr. Friend are trying to find a way to contact them, but “it is very difficult,” Dr. Schadt said.
Dr. Friend and Dr. Schadt are now looking at other databases that might make it easier to contact subjects, but also decided they need to try different approaches. One will be to simply ask healthy people to let them sequence their DNA, putting out the word that they are looking for volunteers, perhaps hundreds of thousands of them. People who agreed would be contacted only if they appeared to be protected from a fatal disease.
I suspect the main long term benefits of sequencing is going to be when the scale really ramps up, and we start to soak up all the rare variants. Kind of like the strategy of Long Term Capital Management hoovering up pennies. OK, perhaps I shouldn’t have used that analogy, but I think that’s really where the future in actionable genomic medicine is going to be. And that brings up the issue of genetic privacy and comfort in the broader public with this sort of data sharing. So yes, I still think that the “Rumors of the death of consumer genomics are greatly exaggerated”. This baby hasn’t been born yet. We’re not talking a 9 month gestation, more like 9 years.