(UPDATED: See below.)
23andMe and deCODEme, which promise to give ordinary individuals a peek at their genetic inheritance, have received a ton of press attention since they launched last November (not least of all from us -- see here and here for starters). Unless you happened to have a spare $1,000 laying around, however, you were pretty much out of luck if you simply wanted to know exactly what you might be getting for your cash.
Until now, that is. On Monday, deCODEme -- the precious capitalization is intensely annoying, but I've bowed to the inevitable, since even the NYT uses it now -- began offering a "demo user" that allows anyone to poke around in the results from a reference genome. While it obviously doesn't tell you anything about your own particular genetic makeup, it can certainly help give you a sense of what sort of information the service provides for your $985 (which, to be clear, is an "introductory price" -- deCODEme hasn't said what it will charge once the "introduction" is over).
My capsule summary: At this stage, deCODEme doesn't appear to offer a heckuva lot of value for what it's charging. The service will presumably grow and evolve over time, but for now, you're probably best off exploring other options -- or simply waiting for the technology to improve and prices to drop.
Like 23andMe, deCODEme essentially offers its customers a kind of shorthand scan of their genomes -- not a full reading of the six billion DNA "letters" (technically, base pairs) that make up our 23 pairs of chromosomes, but a gene-chip analysis that identifies roughly one million sites where the letters are known to vary between individuals. In a rough sense, each such variation -- technically known as single-nucleotide polymorphisms, or SNPs -- determines which version of a particular gene you have.
That information, in turn, may shed light on your susceptibility to particular diseases or predispositions toward certain psychological traits or physical attributes. (A cautionary note: The science of linking gene variation to actual individual characteristics like this is still in its infancy, and many experts -- including some who recently held forth in the New England Journal of Medicine, caution against reading too much into these relationships. deCODEme also advises against making medical decisions based on its information -- a good thing, too, as we'll see.) To get the analysis, customers swab the inside of their cheek with a high-tech Q-tip, then mail it in to deCODEme, which collects the cells from the swab, runs the analysis, and posts the resulting information in a supposedly secure location on the Web.
celiac disease (an autoimmune gastrointestinal disorder), but a higher-than-average chance of going blind or developing asthma. (See "my" Alzheimer's risk thumbnail to the left.) The interface, however, is incredibly clumsy -- checking your risk factors for each of the 18 conditions here will take a while, as the site requires you to click into each one, then click again for your risk calculation, and then click out again to get back to the main gene-profile page. I gave up after looking through the first six, although I'd undoubtedly be more curious were this my actual genotype.
UPDATE: I've taken a closer look at all of deCODEme's disease-risk calculations here.)
One final nitpick before moving on -- the gene-profile page offers two additional viewing options, both oddly implemented and, at least in their current form, basically useless. For instance, it's possible to identify diseases that affect particular organs by clicking on a human-body graphic, although for some reason Alzheimer's disease isn't listed when you select the head. (In fact, it's not included in any of the highlighted organ systems.) You can also choose to view disease traits that are associated with one of your 23 chromosomes, a feature for which I still can't figure out a use unless you happen to be a biology student.
zoom in, but that just makes the colored bars bigger and the chromosomes blobbier.) A "relationship check" link promises to determine how closely related you might be, but anyone less related to you than a parent or child yields a major rat's nest of possible family ties -- for instance, click here to see what it returned when I compared "myself" to "my" nephew.
Disappointingly, one of the potentially interesting features here should let you download your genotype, but unfortunately it's not enabled for the demo account.
Now, it's entirely possible that deCODEme may not have implemented its most up-to-date features on the demo account, although I can't see why it wouldn't -- the idea is presumably to entice users to sign up for the service, not to show them a crippled version and still expect them to cough up some serious bucks. It's equally possible that the service could radically improve in short order over what the company is showing here.
If so, I'm more than willing to take another look. For now, though, I have to say that if I'd just plunked down $985 for deCODEme, I'd be royally pissed, both at the waste of money and at the lack of information, flexibility and user-friendly functionality here. I'm kind of astonished that deCODEme thinks this version of its service resembles a finished product in any way, shape or form.
In any case, I'll review 23andMe if they ever follow through on earlier indications that they might also provide a reference genome for exploration, as well as any other related services such as Navigenics or Knome. (By the way, the Houston Chronicle recently reported that two other Texas companies, Family Tree DNA and Seqwright, also plan to launch personal-genomics services. Hat tip to the Genetic Genealogist.)
Have you signed up for deCODEme? Share your experience in comments.