commercial genetic testing

As part of his Gene Week celebration over at Forbes, Matthew Herper has a provocative post titled "Why you can't have your $1000 genome". In this post I'll explain why, while Herper's pessimism is absolutely justified for genomes produced in a medical setting, I'm confident that I'll be obtaining my own near-$1000 genome in the not-too-distant future. Matt's underlying argument is that while sequencing costs will continue to drop, obtaining a complete genome sequence that is sufficiently accurate for medical interpretation will require additional expenses (increased sequence coverage to…

As part of his Gene Week celebration over at Forbes, Matthew Herper has a provocative post titled "Why you can't have your $1000 genome". In this post I'll explain why, while Herper's pessimism is absolutely justified for genomes produced in a medical setting, I'm confident that I'll be obtaining my own near-$1000 genome in the not-too-distant future. Matt's underlying argument is that while sequencing costs will continue to drop, obtaining a complete genome sequence that is sufficiently accurate for medical interpretation will require additional expenses (increased sequence coverage to…

Late last week I stumbled across a press release with an attention-grabbing headline ("The Causes of Common Diseases are Not Genetic Concludes a New Analysis") linking to a lengthy blog post at the Bioscience Resource Project, a website devoted to food and agriculture. The post, written by two plant geneticists, plays a tune that will be familiar to anyone who has encountered the rhetoric of GeneWatch UK: basically, modern genomics is pure hype perpetuated by scientists seeking grant money and corporations seeking to absolve themselves of responsibility for environmental disasters.  The…

A reminder to anyone who reads my other blog Genomes Unzipped that we have a reader survey underway there now, which includes some questions about genetic testing experiences and attitudes towards genetics. We're closing the survey to responses this weekend, so if you're an Unzipped reader but haven't had a chance to fill in the survey, please do so now.

Update 30/11/10: 23andMe has extended their 80% discount until Christmas, without a need for a discount code. Personal genomics company 23andMe has made some fairly major announcements this week: a brand new chip, a new product strategy (including a monthly subscription fee), and yet another discount push. What do these changes mean for existing and new customers? The new chip 23andMe's new v3 chip is a substantial improvement over the v2 chip that most current customers were run on (the v2 was introduced back in September 2008). Firstly, the v3 chip includes nearly double the number of…

Back in June I launched a new blog, Genomes Unzipped, together with a group of colleagues and friends with expertise in various areas of genetics. At the time I made a rather cryptic comment about "planning much bigger things for the site over the next few months". Today I announced what I meant by that: from today, all of the 12 members of Genomes Unzipped - including my wife and I - will be releasing their own results from a variety of genetic tests, online, for anyone to access. Initially those results consist of data from one company (23andMe) for all 12 members; deCODEme for one member…

(This is an edited excerpt from an op-ed piece I just wrote for Xconomy, posted here as I think it provides some nuance on my views on regulation of genetic testing that was lacking from my post last week. Some context for new readers: a Congressional investigation into the direct-to-consumer (DTC) genetic testing industry last week left a sour taste in the mouths of many observers of the embryonic industry; it was a vicious, one-sided affair, starring a biased report on a "sting" operation performed by the US Government Accountability Office. Along with other recent moves by the FDA, it…

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 sent the personal genomics industry into a spin, and it is still impossible to say exactly which way it will be pointing once the confusion passes. I've been frustratingly unable to find the time to cover the developments as they happened due to other…

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 depends on the details, but if this database is done right it will be good news both for consumers and for reputable genetic testing companies. The press release states that one aim of the database is to "[e]ncourage providers of genetic tests to enhance transparency by publicly sharing information…

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-founder Linda Avey, and the apparent deployment of $4M from a recent funding round to pay back a loan from fellow co-founder Anne Wojcicki.  Razib also notes some anonymous employee reviews of the company on GlassDoor suggesting poor morale among 23andMe workers; it's hard to make too much of these…

This piece in Newsweek is a neat summary of the rise and fall of Icelandic genomics giant deCODE Genetics. Regular readers of Genetic Future will be aware that the company has been steadily bleeding capital ever since its launch over a decade ago, and recently declared formal bankruptcy. Since then the company has been bought up by US-based company Saga Investments. (For an excellent analysis of the implications of this sale, see Dan Vorhaus' post on Genomics Law Report.) A reader emailed me to point out that buried towards the end of the Newsweek article is an ominous paragraph for…

Disclaimer: my wife and I have both received and used free testing kits from Counsyl. Counsyl is a rather enigmatic player in the personal genomics field: apart from a brief mention in Steven Pinker's excellent NY Times piece over a year ago and an even briefer post on a Newsweek blog late last year, the company has been in determined stealth mode for much of the last two years. All that was publicly known about the company when I wrote about them last year was that they will be offering a large-scale carrier screening test: basically, allowing couples who are considering having a baby to…

A curious tweet this morning from personal genomics company deCODEme, barely a few weeks after the declaration of formal bankruptcy of parent company deCODE Genetics: @decodegenetics: Migrate to deCODE this winter! Upload your genetic data for free. http://www.decodeme.com/data-upload Here's a description of the service from the URL in the tweet: deCODEme wants to give even more people the chance to enjoy the best in personal genomics. Our bioinformatics team has just launched a simple system to enable existing customers of 23andMe⢠to migrate their data into deCODEme and to join our…

Four scientists - including the omnipresent J. Craig Venter (left) - have penned an opinion piece in the latest issue of Nature based results from five individuals genotyped by two separate personal genomics companies. The article highlights some deficiencies in the way that genetic data are currently used by direct-to-consumer companies to generate risk predictions and to present them to customers. The identity of the tested individuals isn't made explicit in the article, except to note that there were two males and two females from the same family and one unrelated female. All of the…

In the second of three guest posts, lawyers Daniel Vorhaus and Lawrence Moore of the superb blog Genomics Law Report discuss the implications for personal genomics customers if their provider goes bankrupt. In part one of the series (posted yesterday), Vorhaus and Moore dissected the implications of the privacy policies of two personal genomics companies, TruGenetics and 23andMe.  Today's post is an in-depth analysis of the complex legal issues surrounding the treatment of genetic information gathered by a now-bankrupt personal genomics company. For those who get a little lost in the legal…

Peter Aldhous has a great piece of detective work in New Scientist, which has revealed a bizarre and sporadic glitch in the online software provided by personal genomics company deCODEme to allow customers to view their genetic data. The glitch appears to be restricted to the display of data from the mitochondrial genome (a piece of DNA with a special fascination for genetic genealogists, since it is inherited almost exclusively along the maternal line). On several separate occasions the deCODEme browser presented Aldhous with a mitochondrial profile that was spectacularly wrong, differing…

OK, so this GenomeWeb Daily News article is approximately four centuries old in internet time (i.e. around a week), but it's worth going back and reading. I've previously argued at length that although personal genomics currently offers little in the way of useful, predictive health information, that lack of information in itself represents an important opportunity to educate consumers about the fuzzy nature of common disease genetics. So long as personal genomics companies represent the data accurately (which the major reputable companies currently do quite well, by and large), their…

I just noticed that GeneTests, a voluntary listing of US and international laboratories offering in-house genetic tests, has released an updated version of their graph of commercially available tests: You can see immediately that as the number of tested diseases continues to climb, the number of testing laboratories has plateaued - at least partly the result of more efficient testing methods, and of specialised "boutique" testing labs being swallowed up or out-competed by larger players. As of today, GeneTests lists 606 laboratories testing for 1,705 diseases; 1,419 of the tests are "clinical…