direct-to-consumer genetic testing
dgmacarthur | August 5, 2010Two days ago I reported a rumour that the FDA might have convinced genotyping chip provider Illumina to stop providing its products to direct-to-consumer genetic testing companies - a move that would effectively prevent these companies from being able to operate.
The rumour seemed plausible at the time, based on two pieces of evidence. Firstly, a letter sent to Illumina by the FDA in June warned the company that the use of its chips by personal genomics companies appeared to violate FDA regulations:
Although Illumina, Inc. has received FDA clearance or approval for several of its devices,…
dgmacarthur | July 29, 2010(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…
dgmacarthur | June 25, 2010An excerpt from an article I co-wrote for Xconomy with Genomics Law Report's Dan Vorhaus - link to the full article below.
Are you ready for consumer genetics? Is your government?
Recent announcements of federal investigations into the budding direct-to-consumer (DTC) genetic testing industry suggest that authorities are preparing to increase regulation of companies offering consumers access to their own genetic data. However, rather than rushing in to clamp down on the industry, regulators should slow down and focus, first, on understanding this complex field.
An increasing number of…
dgmacarthur | June 25, 2010In 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known associations for traits like hair colour, eye colour and freckling, as well as the discovery of previously unpublished associations for things like asparagus anosmia (the ability to smell urinary breakdown products after eating…
dgmacarthur | June 7, 2010Personal 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 plate of customer DNA was affected by the mix-up. This resulted in incorrect results being sent to customers, with alarming consequences in some cases; one mother posted on the 23andMe community about her distress upon discovering that her son's results were incompatible with the rest of the…
dgmacarthur | May 20, 2010The 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…
dgmacarthur | March 14, 2010Camilla 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 of the more glaring flaws:
Direct-to-consumer genetic testing is not illegal in the UK.
Long claims:
Although most of these tests seem pretty harmless and are marketed as "educational" rather than "diagnostic", in the UK such over-the-counter kits are outlawed.
She's completely wrong. In fact…
dgmacarthur | January 22, 2010Disclaimer: 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…
dgmacarthur | January 7, 2010Genetic genealogist Blaine Bettinger has a fantastic post dissecting and contextualising a rather worrying result from his personal genomic analysis: a 50-60% increased lifetime risk of type 2 diabetes.
Blaine is unfortunate enough to be among the 1-2% of individuals who carry two risky versions at each of three major risk variants for the disease. (It's worth noting that type 2 diabetes risk is determined by many different genetic variants, most of which remain unknown, as well as environmental factors - so Blaine's discovery is very far from a certain diagnosis of the disease.)
Blaine's…
dgmacarthur | December 22, 2009Late last week I noted an intriguing offer by personal genomics company deCODEme: customers of rival genome scan provider 23andMe can now upload and analyse their 23andMe data through the deCODEme pipeline.
On the face of it that's a fairly surprising offer. As I noted in my previous post, interpretation is what generates the real value for personal genomics companies, so giving it away for free seems a bizarre approach to business - especially for a company living on the edge of a financial precipice. However, I also argued that the intention here is likely to be to generate an opportunity…
dgmacarthur | December 17, 2009A 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…
dgmacarthur | November 24, 2009Misha Angrist has a very brief but eloquent rant in response to the genomics nay-sayers in this Nature News piece on the bankruptcy of deCODE Genetics.
Here's a taste:
I agree: GWAS is of limited value and this probably contributed to deCODE's demise. But whatever deCODE's fate, if whole human genomes can be sequenced for < $2000, isn't it about time we stopped kicking GWAS's ever-stiffening corpse? Second, just because something is not a medical necessity, does it follow that it is worthless?
Here's the rest.
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dgmacarthur | October 25, 2009It's been an intensive week of genomics here at the American Society of Human Genetics meeting, and I haven't been able to grab time to blog as much as I'd have liked. In fact there's a whole load of genomics news I'll be trying to cover in some detail over the next couple of weeks; for the moment, though, I couldn't let today's presentation from personal genomics company 23andMe go by without at least some comment. (For other coverage of the conference, do check out Luke Jostins' blog coverage and the stream of live analysis on Twitter.)
The 23andMe presenter (Nick Eriksson) delivered an…
dgmacarthur | October 7, 2009Four 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…
dgmacarthur | September 15, 2009Mark Henderson's interview with Anne Wojcicki, co-founder of personal genomics company 23andMe, is well worth a read. The big story is this: Wojcicki has floated the possibility of offering discounted genome scans to clinicians "to teach them to interpret genomic information that is now readily available to their patients".
Wojcicki explains:
"Clearly we need to engage with physicians to help them to understand this information," she said. "One of the things we've talked about is we'd love to get physicians comfortable with their own genomes first, have them understand what does it mean,…
dgmacarthur | September 15, 2009 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…
dgmacarthur | September 14, 2009In this series of three guest posts, lawyers Daniel Vorhaus and Lawrence Moore of the excellent Genomics Law Report provide insight into the intriguing question of what happens to customers' genetic data in the event that a personal genomics company goes out of business. Part II and III of this series will be posted over the next two days.
What Happens if
a DTC Genomics Company Goes Belly Up?
Direct-to-consumer (DTC) genomics
companies are not immune to the current recession. When TruGenetics,
a new player in the DTC genomics space, announced in June that it would
be handing out 10,000…
dgmacarthur | September 2, 2009David Clark at Genomics Law Report has a thorough dissection of the recent and highly restrictive laws passed in Germany governing access to genetic testing. You should read the whole thing to get a sense of what happens when governments grab the wrong end of the regulation stick, but here's the crucial paragraph:
The German Act [...] adopts an extremely protective, even fearful, view of genetic information as something so dangerous and private that the generation and disclosure of genomic data must be mediated solely through specially trained physicians, accompanied by psychological and…
dgmacarthur | September 2, 2009The NY Times has an article entitled "Buyer beware of home DNA tests" that adopts the paternalistic party line of the medical establishment: taking DNA tests without a doctor's advice is hazardous to your health.
Remarkably, the article acknowledges that qualified genetic counsellors are few and far between and that "most practicing physicians lack the knowledge and training in genetics to interpret [DNA tests] properly", and yet still suggests that customers should "take the findings to a qualified expert".
Begging the question: which qualified expert should customers be taking their test…
dgmacarthur | August 27, 2009Peter 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…