dgmacarthur

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…

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…

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…

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…

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…

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-…

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,…

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…

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…

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…

Kai Wang is a postdoctoral fellow at the Center for Applied Genomics, Children's Hospital of Philadelphia and an author on numerous genome-wide association studies. He left this lengthy comment as a response to my recent post on this comment by McClellan and King in Cell, and I felt it warranted…

Yesterday's inaugural Genomes, Environments, Traits (GET) meeting was by all accounts a massive success, pulling together the largest number of individuals with fully sequenced genomes ever assembled in the same room for a long day of discussion about the future of personal genomics. While I was…

This critique of genome-wide association studies by Jon McClellan and Mary-Claire King in Cell is the latest salvo in a prolonged backlash against genome-wide association studies (GWAS). I hope to have more on the McClellan and King paper shortly, but in the meantime I will point you to a positive…

It's a big week for family genomics. I wrote a couple of days ago about the West family, all four members of which recently had their entire genomes sequenced by Illumina. Now an article in the Salt Lake Tribune reveals the identity of yet another four-person nuclear family with complete genome…

Mark Henderson breaks the news of the first sequencing of an entire nuclear family for non-medical (read: recreational) reasons. John West, his wife and two teenage children (aged 14 and 17) apparently paid the full retail price of almost US$200,000 (update: in the comments, Mark writes that West…

My previous post on the Myriad gene patent decision has resulted in one of the most useful and enjoyable comment threads in the history of this blog.  The debate revolves around a single, central question: while it's clear that the loss of gene-based patent protection (should the current decision…

If you haven't already browsed through Nature's most recent edition, do so immediately - it's packed with juicy genomic goodness. I particularly enjoyed the brief commentaries from Francis Collins and Craig Venter, both providing retrospectives on the last decade of human genomics and predictions…

Wellcome Trust Case Control Consortium. (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls Nature, 464 (7289), 713-720 DOI: 10.1038/nature08979 The Wellcome Trust Case Control Consortium has just published the results of a massive…

One of the major potential stumbling blocks for the field of genome-based diagnostics - particularly as we begin to move into the whole-genome sequencing era - is the unresolved issue of gene patents.  Currently somewhere in the order of 20% of the protein-coding genes in the human genome are…

Earlier this month I wrote a post skewering a terrible opinion piece about personal genomics in the Sunday Times by Camilla Long. This was my conclusion: If Long wishes to stay ignorant of her own genetic risks - just as she has managed to remain ignorant of the entire field of genetics, even…

Nick Loman (of the University of Birmingham, and the Pathogens: Genes and Genomes blog) has a post updating us on his survey of second-generation sequencing machines around the world. Loman's results are also available in the format of a handy Google map (see left). The take-home messages based on…

Update: Dan Vorhaus has a brilliantly thorough post outlining the implications of the registry. NIH Director Francis Collins has announced the creation of a voluntary registry for genetic testing services, with the details of each service being made fully available in a public database. Much…

Camilla Long's appallingly bad op-ed piece about personal genomics in the Sunday Times is a true masterpiece of unsupported criticism, and an ode to willful ignorance. I'd encourage readers to discover their own favourite errors and misconceptions (there are plenty to go around), but here are some…

Nic Wade says something very strange in his most recent article on whole genome sequencing in reference to the outcomes of genome-wide association studies: The results of this costly international exercise have been disappointing. About 2,000 sites on the human genome have been statistically…

Zoe McDougall from Oxford Nanopore points me to a press release from Illumina announcing a new era of celebrity genomics: Illumina, Inc. (NASDAQ:ILMN) today announced that it has sequenced the DNA of American actress Glenn Close, the first publicly named female to have her DNA sequenced to full…

Lupski, J.R., et al. (2010). Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New England Journal of Medicine advance online 10.1056/nejmoa0908094 Roach, J.C., & et al. (2010). Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science : 10…

Dan Koboldt has a very nice recap of the various sequencing technologies presented at last week's Advances in Genome Biology and Technology meeting. I totally agree with his central point: Something had been bothering me about the sequencing-company presentations this year, and I finally realized…

Dan Vorhaus pointed me to this review of the recent PBS series Faces of America. I haven't seen the series myself, but I found this segment of the review hilarious: The element of the last PBS episode I found most intriguing was Gates' interview with novelist Louise Erdrich, who declined to have…

A colleague just pointed me to an entry on Brad Templeton's blog where Templeton reveals some bizarre connections between people he has met as distant cousins via 23andMe's Relative Finder algorithm. Nothing too spooky, but a precursor of things to come if (as I hope and expect) 23andMe manages to…

Over at Gene Expression, Razib suggests that trouble lies ahead for personal genomics company 23andMe. Although I'm generally a bit of a cheerleader for the Mountain View-based startup, I must admit the signs over the past year or so haven't been good: two rounds of lay-offs, the departure of co-…