Erika Check Hayden has a nice piece on methods to squeeze the most out of your own personal genomic data, including a profile of the Promethease analysis tool developed by SNPedia‘s Mike Cariaso and Greg Lennon, which allows personal genomics customers to match their own genetic data against the SNPedia database.
Hayden also gives me my first ever mention in Nature – unfortunately, it’s in the context of the unflattering comments I made about the preliminary sequence data released recently by the Personal Genome Project. While I stand by those comments (and I see that PGP leader George Church agrees with them), I do want to note that my criticism was directed purely at the quality of some early-release data, and not at the project as a whole – which I regard as an extremely important step towards the development of personalised medicine, both from a social and a scientific viewpoint. (I should also emphasise that I was expressing my own opinion and in no sense representing the views of my employer, the Wellcome Trust Sanger Institute).
Moving on, Nature also has a fascinating and timely article on the case of the missing heritability – the puzzle of why current genome-wide association studies, despite their well-publicised successes, have failed to uncover the vast majority of heritable disease risk. It’s good to see this issue begin to get some serious attention: I’ve been noting this for a while (see why do genome-wide scans fail?), and David Goldstein raised it in the NY Times back in September, but the vast majority of coverage has focused (perhaps understandably) on the successes of the approach. The article describes several of the places where the missing genetic risk may be hiding, and the challenges of tracking it down – I’ll be writing about approaches to tackle a few of these darker regions of the genome (particularly rare variants and copy number variation) over the next month or so.
There’s are also articles on the issues of consent in the genome age, and on the troublesome question of what sort of regulation needs to be put in place for the personal genomics industry. These are well worth a read, although I find myself both confused and rather irritated by the latter piece – I guess there’s something about the phrase “society should not succumb to fantasies about ’empowered’ individuals making free, informed choices in an unregulated genomic marketplace” that just rubs me the wrong way…
Anyway, that’s enough rambling from me – go read them for yourself!