Tag Archive for 'survey'

From GWAS to pathways, the consequences of DTC genetics and screening by sequencing

A paper out in PLoS Genetics this week takes a step towards using genome-wide association data to reconstruct functional pathways. Using protein-protein interaction data and tissue-specific expression data, the authors reconstruct biochemical pathways that underlie various diseases, by looking for variants that interact with genes in GWAS regions. These networks can then tell us about what systems are disrupted by GWAS variants as a whole, as well as identifying potential drug targets. The figure to the right shows the network constructed for Crohn’s disease; large colored circles are genes in GWAS loci, small grey circles are other genes in the network they constructed. As an interesting side note, the GWAS variants were taken from a 2008 study; since then, we have published a new meta-analysis, which implicated a lot of new regions. 10 genes in these regions, marked as small red circles on the figure, were also in the disease network. [LJ]

23andMe customers will be interested in a neat little FireFox plug-in that allows them to view their own genotypes for any 23andMe SNP mentioned on a web page. You can download the plug-in here (you’ll need to have an up-to-date version of FireFox), and I have a brief review of the tool here. [DM]
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Reader survey results: digging a little deeper

Thanks again to the more than 250 of you who completed our reader survey a couple of weeks ago. We reported the basic demographics of readers in a post last week, and promised you some more detailed analysis this week – particularly of the two questions where we gave people the option of adding their own thoughts as free text.

There’s no way we can present every nugget of interesting information emerging from the survey, but we thought it was worth digging into a few of the more obvious or unexpected features of the data. Firstly, a little additional analysis of the more quantitative data emerging from the survey.
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The first Genomes Unzipped reader survey

The survey is now closed – we’ll be reporting the results soon.

Welcome to the first ever Genomes Unzipped reader survey: we would be very grateful if as many of our readers as possible fill this out. We’ve got a set of demographic questions, some questions about your own experience with personal genetics, and a few questions about controversial topics. As well as it being generally interesting to know who our readers are, and what their views and experience are, the results of this survey will also ensure that we can write posts that are interesting and relevant to as many of our readers as possible. It should take around 5-10 minutes to complete.

Thank you to everyone who suggested questions for the survey; we’ve included some of the suggestions, though there were many more interesting questions that we didn’t have space for. If the response to this survey is good, we will consider doing more detailed reader surveys in the future (for instance, a “GNZ Readers’ Opinions on Regulation” survey).

Guest post: Barbara Prainsack on public attitudes to DTC genetic testing

Barbara Prainsack is senior author on a paper published last week exploring public attitudes to direct-to-consumer genetic testing. She kindly agreed to summarise the key findings of the paper for our readers.

Much has changed since the first personal genome testing (PGT) companies three launched years ago. Vivid discussions are taking place about the ethical and societal dimensions of especially the direct-to-consumer sector of PGT, and debates continue on how to regulate the field: Advisory commissions in many countries are issuing recommendations, and regulators have stepped in. In the meantime, Harvard’s Personal Genome Project (PGP) has reached over 1,000 participants, and PGT companies have dropped prices considerably and later raised them again. Of the three PGT companies (23andMe, deCODEme, Navigenics) which launched in autumn 2007, only one (23andMe) continues to sell their tests solely DTC (Navigenics offer their tests through doctors, and deCODEme do both), but numerous other companies have joined the DTC market. This shows that there is clearly an ongoing need for raising awareness and facilitating debates about personal genomics.

The launch of Genomes Unzipped (GNZ) last June, and to an even greater extent, the unzipping of the genome data of its core members, mark important steps on that road. One of the largest achievements of GNZ so far is that it has pushed the debate beyond hypothethical scenarios but enables a discussion of an actual scenario of real people publicly sharing their PGT results.

We hope that with findings from a survey published last week we can also make a small contribution to the debate. Early in 2008, our group at the Department of Twin Research and Genetic Epidemiology, and the Centre for Biomedicine & Society at King’s College London, started wondering what the potential market for such tests would be, for what reasons people would take the test, and what they would do with the results. In autumn 2008, we sent out questionnaires about PGT to 6,510 volunteers, aged 17-91, in the TwinsUK registry. 4,050 people responded to the survey, which to the best of our knowing makes ours the largest survey of public understandings of PGT so far.

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