Genetic Future

Personal genomics links

Blogging time has been pretty scarce for me lately, mainly due to the impending submission of the 1000 Genomes Project pilot paper (more on my involvement in that project later). Sadly, personal genomics has not done me the favour of sitting still while I’m busy. Here are some of the more interesting recent bits and pieces from the personal genomosphere:

Speaking of the 1000 Genomes Project, the consortium has formally announced the release of data from its three pilot projects. The pilot data include low-coverage whole-genome sequences from 180 individuals, high-quality whole-genome sequences from six people and targeted sequence from around 800 genes in 700 individuals. It’s a massive amount of data, but researchers who don’t have easy access to high-performance computing can take advantage of the data availability via Amazon Web Services.
Dan Vorhaus has been busy analysing the ongoing saga of the regulatory crackdown on the direct-to-consumer genetic testing industry. If you haven’t already, check out his posts on lessons from history for DTC companies on challenging the FDA, and the shock move by the FDA to swoop down more broadly on lab-developed tests.
David Dooling has a great post on the real costs of genome sequencing, explaining why even as the reagent costs quoted by sequencing companies continue to plummet there will be a slower decline in real costs – because unfortunately, as David notes, “the DNA doesn’t just hop on the sequencer by itself”. 
The Sanger Institute (where I work) has formally announced the launch of the UK10K Project, which will sequence the whole genomes of 4,000 people at low coverage, as well as sequencing all of the protein-coding genes (collectively known as the exome) of a further 6,000 people. The project (which I’ll hopefully be playing a peripheral role in) aims to gain deeper insight into the genetic basis of a wide variety of diseases and complex traits.
Finally, a survey of biologists conducted by Nature provides some insight into the level of interest in DNA testing among scientific professionals:

Some 15% of respondents say that they have taken a genetic test in a medical setting, and almost one in ten has used a direct-to-consumer genetic testing service. When asked what they would sequence if they could sequence anything, many respondents listed their own genomes, their children’s or those of other members of their family (the list also included a few pet dogs and cats).

Some are clearly impatient for this opportunity: about 13% say that they have already sequenced and analysed part of their own DNA. One in five said they would have their entire genome sequenced if it cost US$1,000, and about 60% would do it for $100 or if the service were offered free. Others are far more circumspect about sequencing their genome — about 17% ticked the box saying “I wouldn’t do it even if someone paid me”. 

Nothing too surprising there, although I’d love to be able to get in and break down the raw data to tease apart more subtle results (for instance, attitudes towards DTC testing among geneticists vs other fields of biology). I’ll see if I can get hold of it.