personal genomics
dgmacarthur | May 18, 2009Personal genomics is a rapidly evolving game, with a clear end goal in sight: offering consumers an accurate, affordable and complete genome sequence, and providing them with tools to dig out the useful nuggets of information contained therein. That goal remains out of reach, and while DNA sequencing technology continues to mature companies in the personal genomics space are offering products at various points on the trade-off curve between information content and cost.
At the low-information/low-cost end, companies such as 23andMe and deCODEme offer cheap (sub-$1000) genome scans looking at…
dgmacarthur | April 27, 2009This seems like pretty interesting news:
23andMe, Inc., an industry leader in personal genetics, and Palomar Pomerado Health
(PPH), the largest public health district in California, today
announced that PPH will be offering the 23andMe Personal Genome Service
for sale to San Diegans at its outpatient health centers. As an
innovator in preventive health care, PPH encourages its communities to
understand their genetic information in order to make more informed
decisions about their health. This partnership marks the first time
that a healthcare organization has provided the Personal Genome…
dgmacarthur | April 22, 2009Personal genome sequencing provider Knome is planning to offer a complete genome sequence to the highest bidder on eBay - with the bidding opening at $68,000.
The plan, announced in an NY Times article today, is described as "essentially a publicity stunt" - the proceeds will be donated to the X Prize Foundation, a charitable trust devoted to providing cash incentives for reaching technological breakthroughs. The breakthrough that Knome is most interested in seeing achieved, of course, is the goal of the Archon X Prize for Genomics: a reward of $10 million for the first group to sequence 100…
dgmacarthur | April 19, 2009John Hawks riffs on the themes of a recent Economist article on personal genomics (which I've also talked about here).
Hawks argues that "nobody's quite figured out how to sell sequence to people" - that although 23andMe's marketing strategy is shrewd, it's still "marketing based on anxiety", and the provided content initially didn't seem that appealing:
I used to feel the way Altshuler does. What good could it possibly do to have my genes sequenced? I know the limits on the usefulness of the data. There's minimal medical value for most people right now. I'm not even sure what I would do…
razib | April 17, 2009A much more thorough post by Dan MacArthur on the recent issue of the New England Journal of Medicine & genomics.
dgmacarthur | April 16, 2009A reader pointed me to a recent Economist article on personal genomics. There are numerous tidbits of interest, such as a passing comment about the chaotic Chinese personal genomics industry (about which I know almost nothing). Perhaps the most important quote comes in the closing paragraph:
Dr Church even argues that genome sequencing "will in effect be available free" because companies will give away sequencing to sell other services, such as genetic interpretation--much as mobile operators "give away" handsets to get customers to sign up for lucrative service plans. And when this happens…
dgmacarthur | April 16, 2009The latest issue of the New England Journal of Medicine has four excellent and thought-provoking articles on the recent revolution in the genetics of common disease and its implications for personalised medicine and personal genomics. Razib and Misha Angrist have already commented, and there's also a thorough lay summary by Nick Wade in the NY Times.
The scene is set by a brief but useful review of progress in genome-wide studies of human disease, which is worth reading if you need to get yourself up to speed on the scope of progress in modern disease genomics. The main course, however, is…
dgmacarthur | April 7, 2009Attila Csordas has a post up at Partial Immortalization explaining how to use the application MitoWheel (which Csordas helped develop) to visualise data from the new Haplogroup Tree Mutation Mapper from 23andMe. This might be a fun way for genetic genealogy afficianados to spend a few minutes getting to know their genomes better.
This reminded me about a little experiment of Csordas' that I learnt about when I met him in Cambridge a couple of weeks ago, which strikes me as a quintessential expression of the spirit of the personal genomic era - posting his genetic data from 23andMe, one base…
dgmacarthur | April 3, 2009OK, 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…
dgmacarthur | April 1, 2009I noted yesterday that the annual earnings report of Icelandic biotech giant deCODE Genetics, one of the major players in modern human genetics, suggested that the company is veering steadily towards financial oblivion.Â
Today the company had a crucial earnings call - anyone interested in the details of deCODE's plight, or at least a sanitised corporate version thereof, should check out the webcast. The main messages from the call have been ably dissected by articles from Kevin Davies of Bio-IT World and Mark Henderson at The Times (in which I am delighted to be quoted alongside human…
dgmacarthur | April 1, 2009Personalised medicine pioneers Helix Health have announced their intention to seize control of the assets of personal genomics company 23andMe.
Helix Health founder Steve Murphy (left) laid out his takeover plans during a press conference this morning. "It's time to seize the moral high ground!!!!" he proclaimed, physically spelling out the additional exclamation marks to the assembled reporters. "23andMe have played their BS PR games for too long, and I'm here to put that right!"
During a four hour-long monologue that was often rambling and at times completely incoherent, pausing only for…
dgmacarthur | March 31, 2009Personal genomics company 23andMe has just launched an online community of "mommy bloggers" - a move I can only describe as sheer marketing genius.
I'll give you a moment to let the vision sink in. Imagine a group of women hungry for information about the best way to ensure the future health and wellbeing of their unborn children. Now imagine a website packed with sincere, caring mother-types - most of them well-established bloggers with a strong existing fan base - writing about the real day-to-day issues that mothers care about (in the words of one recruit: "momming, aging, and my twenty…
dgmacarthur | March 25, 2009New Scientist has a fascinating piece in which reporters Peter Aldhous and Michael Reilly demonstrate - with a little cash, and more than a little effort - the possibility of obtaining large-scale genetic data from someone without their knowledge or permission.
The reporters started with a glass that Aldhous had drunk water from; Reilly swabbed the glass and sent the sample to an unnamed commercial lab for whole-genome amplification (a technique widely used in forensics and research applications, which allows small amounts of DNA to be converted into larger amounts). An initial attempt to…
dgmacarthur | March 23, 2009To complete my 23andMe trifecta this morning, here's Steve Murphy frothing at the mouth about the company's recent antics:
Why is it so vital that physicians,
nurses and others in the healthcare field try to stay above the law?
Because patients lose trust in the system. They begin to think that
their care givers are reckless criminals. And WHO would trust their
life to a criminal???
Apparently,
this stream of thought doesn't even phase a company like 23andME. You
see, they are blatantly breaking the law in several states. Why? They
are on a mission. Destroy the current healthcare system,…
dgmacarthur | March 23, 2009This casual aside on a recent post on personal genomics company 23andMe's corporate blog caught my eye:
Mutations in several other genes have also been associated with
Parkinson's disease, but these are extremely rare. Many have been found
only in one or two families. While these mutations are so rare that
they are not covered by 23andMe (to date we have found no customers
with any of them), studying them could help scientists better
understand the mechanisms of Parkinson's generally... [my emphasis]
In other words, the company already has probes on its custom chip targeting these variants,…
dgmacarthur | March 23, 2009Drew Yates at ThinkGene has a delightfully cynical take on the personal genomics industry:
I know 23andMe's game, it's the "break the mean with variance" game,
and it's the same Silicon Valley game that's been played by internet
media companies for the last decade. How to play: a network of superior
talent and funding backs a group of startups that executes something
outrageous and otherwise unobtainable by contractual or legal
permission (like YouTube, Napster, Google itself... have we forgotten the
shear audacity of copying all the information in the world without
permission?) Then, that…
dgmacarthur | March 12, 2009Over at the 23andMe blog The Spittoon, company co-founder Linda Avey expands on her vision for a novel model of genomic research, in which personal genomics customers contribute their genetic and health data to fuel research into the inherited and environmental triggers for disease.
This is a model that 23andMe has been building towards for a long time. In May last year the company launched 23andWe, a cutely-named effort to obtain detailed health and trait data from their existing customers through online surveys which could then be combined with genetic data to find novel gene-trait…
dgmacarthur | March 12, 2009Genetic genealogist Blaine Bettinger explores the results of his ancestry testing from 23andMe, and compares it to previous results from a much lower-resolution test.
The main message: the hundreds of thousands of genetic markers used by 23andMe (and other personal genomics companies, e.g. deCODEme) to infer genetic ancestry provide a much more detailed and accurate picture of the geographical origins of your genome.
No surprises here. The power of the type of genome-wide genotype data generated by 23andMe for ancestry prediction has been compellingly illustrated by a series of recent…
dgmacarthur | March 4, 2009I received an email a while back from a reader wondering why his friend has had to submit multiple saliva samples to personal genomics company 23andMe without getting a result back. Customers in a similar position may be reassured by a lengthy explanation posted yesterday on 23andMe's blog about their sample processing protocol, penned by the company's Director of Operations.
(Other potential customers may also be reassured to hear that this type of failure is apparently "quite rare", although 23andMe haven't responded yet to my queries regarding the frequency of sample failures; and that…
dgmacarthur | February 20, 2009I'm struggling to figure out what is more disturbing about this post - the fact that 23andMe are actually trying to say that BRCA gene testing is not "medical genetic testing", or Steve Murphy talking about his "man parts".
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