Genetic Future

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In October last year I reported on a presentation by direct-to-consumer genetic testing company 23andMe at the American Society of Human Genetics meeting in Honolulu, in which the company described results of genetic association studies performed using combined genetic and survey data from their customers. The results of their study include replication of several known…

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…

It looks as though the FDA is swooping down on the direct-to-consumer genetic testing industry in a serious way, sending formal letters to five companies informing them that their tests will be regulated as medical devices: WASHINGTON — The Food and Drug Administration is issuing regulatory letters to five genetic test makers, the first sign…

I posted yesterday on a serious incident at 23andMe’s sample processing lab, LabCorp, that resulted in the wrong data being sent to up to 96 customers. The company has just posted a blog entry explaining the cause of the problem and the approaches being taken to ensure it doesn’t happen again. As several commenters had…

Personal genomics links

Some worthwhile recent links from the world of personal genomics: A great piece in Newsweek by Mary Carmichael summarising the recent regulatory furore over direct-to-consumer genetic testing, and the potential implications for the industry. Emily Singer has two articles at MIT Technology Review summarising important messages from the Consumer Genetics Conference last week. Firstly, early…

Personal genomics company 23andMe has revealed that a lab mix-up resulted in as many as 96 customers receiving the wrong data. If you have a 23andMe account you can see the formal announcement of the problem here, and I’ve pasted the full text at the end of this post. It appears that a single 96-well…

Jay Flatley, CEO of sequencing giant Illumina, announced at the Consumer Genetics Conference today that the company had reduced the price of its retail whole-genome sequencing service. At $19,500 this still isn’t in the realm of an impulse buy for most of us, but it’s a long way down from the $48,000 that Illumina offered at…

The brief Golden Age of direct-to-consumer genetic testing – in which people could freely gain access to their own genetic information without a doctor’s permission – may be about to draw to a close. In a dramatic week, announcements of investigations into direct-to-consumer genetic testing companies by both the FDA and the US Congress have…

I’ve been quiet for the last two weeks, largely due to some feverish last-minute analysis in the lead-up to this year’s Biology of Genomes meeting at Cold Spring Harbor Laboratory, where I spoke in (and co-chaired) the Genetics of Complex Traits session. Long-term readers may recall that I sparked off a minor controversy at last…

A paper just released in the Lancet describes a thorough and integrated approach to squeezing as much clinically relevant information as possible out of a genome sequence. However, despite a state-of-the-art clinical interpretation pipeline, the major message from the paper is just how far we still have to go before we can make full use…