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Here’s the latest action:

Six Apart evolves into an ad network — The blogging company behind MovableType, TypePad and Vox is offering a new advertising program which will give publishers more control over ads and revenue from their sites. The company claims its ad network will be better than the many others out there (with more popping up everyday) because it has the best experience with advertisements specific to blogs. The company also launched Six Apart Services after acquiring Apperceptive, a New York-based company that has helped build communities for large sites such as The Washington Post, The Huffington Post and Boing Boing. Six Apart vice president, Anil Dash has more.

Microsoft acquires Xobni, maybe — The email startup, which Bill Gates has called “the next generation of social networking,” has supposedly signed a letter of intent to be purchased by the software giant, sources tell TechCrunch, apparently for $20 million. But not so fast,  we reached co-founder Matt Brezina on his cell, who said it was too early to comment. He said the company remains focused on rolling out product for general release. He did seem remarkably relaxed, suggesting the deal may not yet be in final stages, but it was hard to tell. He was sauntering on the Penn State campus, about to start a lecture to students, providing tips about entrepreneurship. Now we’re seeing other sources say no letter has been signed and that the company plans to remain independent until it gets its product out. Our guess is that Microsoft has offered, but that no deal has been signed yet. Xobni works as a plug-in for Microsoft Outlook and allows users to easily view past related conversations and search quickly through mail — which sounds a lot like Google’s Gmail.

Sequoia adds another partner to start broader investment initiatve — The WSJ’s Rebecca Buckman follows up on rumors that Sequoia is seeking to broaden its activities, confirming the hiring of Eric Upin and Keith Johnson, both of the Stanford Management Company. They’re creating an investment fund that would “invest in multiple asset classes, instead of just venture capital… The new vehicle — if it gets off the ground — likely would mimic the investment style of university endowments and other private funds that put money into stocks and bonds but also ‘alternative investments,’ such as buyout funds, venture capital and natural-resources investments.”

23andMe admits personal genetics have no medical purpose — Google raised eyebrows when it made investments in both genetic screening company, 23andMe (started by Google co-founder Sergey Brin’s wife) and Navigenics, another company that allows you to see your genome. Now under scrutiny in states like New York, services like these are being forced to admit they are little more than a vanity. “23andMe’s services are not medical … they are educational,” 23andMe spokesman Paul Kranhold told Forbes.

Attack of the Mac clones — Computer maker Psystar continues to grab headlines with its OS X-enabled (Apple’s operating system) computer. Apple does not allow 3rd parties to create Mac computers, whereas dozens of manufacters make Windows-based PCs. But with Apple’s market-share and demand on the rise, there certainly seems to be a market out there for a very low-cost Mac. Apple’s Mac Mini is currently the cheapest they offer at $599, but this Psystar system would be $399 with no software installed. Naturally, the legality of making these systems without Apple’s blessing is an issue.

John Battelle is first “John” in Google, shows Google is broken — Look, we all like John Battelle, the founder and chairman of Federated Media (which runs some of the ads on VentureBeat), but come on, he’s the number one result when you type “John” into Google’s search box? “I mean, I am ahead of Lennon. The Gospel. Er…McCain,” Battelle himself notes. I could go on: John Adams, John Hancock, John F. Kennedy, etc. With all due respect, I think it’s fair to say that most of the world has no idea who John Battelle is, yet that’s who they’ll find when they search for one of the most common names in the English language.

23andMe — the Google-backed startup that scans your genome for disease-risk factors and other information, now lets anyone see how the service works without first charging $999 for the privilege. My first impression: It packs a tremendous amount of information into clean, uncluttered pages that are still relatively easy to understand even for newcomers to genetics.

The 23andMe service stands in particularly sharp contrast to a similar offering from deCODEme, which I reviewed unfavorably here and here. We take a closer look in this post over at VentureBeat Life Sciences.

(UPDATED: See below.)

As I discussed a few weeks ago with respect to deCODEme — a “personal genomics” service hurriedly launched last November by Iceland’s deCODE Genetics in an apparent attempt to beat 23andMe to market (it succeeded by a day or so) — these sorts of services can awfully dense and difficult to navigate. The deCODEme service appears to be particularly bad in that respect, both in terms of its design and even the underlying science used to justify the genetic information displayed in a demonstration user account.

So it’s a pleasant surprise to report that 23andMe, which over the weekend began allowing people to set up demonstration accounts itself, appears to have made the process of understanding your genetic inheritance about as simple and intuitive as it can probably get. The demo accounts don’t display your own genetic information, of course — instead, they show a profile for the fictional Greg and Lilly Mendel and their immediate relatives. (The family name is inspired by Gregor Mendel, a nineteenth-century monk known as the “father of genetics” for his studies on the inheritance of pea plants; the profile uses actual data from an anonymous European family.)

These sorts of demo accounts are particularly useful given that 23andMe and its competitors are charging customers roughly $1,000 for a genetic analysis, which is a lot to shell out when you don’t have any real idea what you’re getting for your money. To sign up for a 23andMe demo account, click here.

Like all these services — of which there are currently at least four, counting the new DNATraits project launched recently by Family Tree DNA — 23andMe takes a genetic sample (here from having users spit repeatedly into a tube) and checks 600,000 or so individual DNA “letters,” or bases, known to vary between people. After analyzing those letters, the company posts your genetic information on a Web site where you can see what your particular genetic pattern says about inherited traits such as your susceptibility to cancer or heart disease, longevity and even eye and hair color. Not only can you spin through the data in as much or as little detail as you like, you can share it with relatives or friends and search for others with similar traits.

One of the first things a new visitor will see is the clean and uncluttered look of 23andMe’s “gene journal,” which lets you scroll through various genetic traits and then dive in to see how you — well, your Mendel stand-in — fare compared to the population at large. (See a screenshot of Greg Mendel’s gene journal using the thumbnail above and to the left.)

More after the jump: Read the rest of this entry »

(UPDATED: Added links from Davos. Also, an earlier version of this post originally appeared at the end of this item.)

While I’ve been diving into deCODEme’s surprisingly spotty personal-genomics service, 23andMe has been whooping it up in Europe. The startup launched its consumer gene-scanning service there and made a splash at the World Economic Forum in Davos, where it handed out 1,000 free saliva-collection kits to attendees and another 50 for “elite journalists.” (Google’s Sergei Brin — the husband of 23andMe co-founder Anne Wojcicki — was even spotted wearing a badge reading “I spat!” at a small meeting of Google officials and reporters.)

This is all very clever PR for 23andMe, not to mention a cunning way to capitalize on the company’s close association with Google’s star power (Google is a 23andMe investor). And, to her credit, Wojcicki appears to be downplaying the usefulness of disease-risk prediction at this point, noting correctly that the underlying science is still awfully preliminary in most cases. Still, at the moment it’s impossible to really assess 23andMe’s offering unless you pony up $999 or luck into one of their free kits, as the company is still just “thinking” about making a reference genotype available to the public at large, according to one of its PR reps.

Meanwhile, another startup is getting into the personal-genomics game. SeqWright, a Houston company that until now has focused on contract genome-sequencing for research labs and drug companies, launched its Genetic Profiling Service for exactly $1 less than what 23andMe is charging — $998. From the outside, it’s impossible to tell how SeqWright expects to distinguish itself from its better-known competitor, although there’s something just a bit forlorn about the company’s attempts to play up its credentials. Witness, for instance, this, from a section of the Web site the startup calls “Why SeqWright”:

Personal Genomics may be a new field but, we have been utilizing the microarray technology, which makes it possible, for nearly three years.

Wow, three whole years? Microarrays — colloquially known as “gene chips” — have been used for genomic analysis for well over a decade.

Also, I can’t help noting that Navigenics, which at last notice was supposed to be launching its own health-oriented personal-genomics service earlier this year, has been awfully quiet recently.

UPDATE: Jeff Jarvis spits and tells at Davos, and a blogger for the NYT weighs in as well.

(UPDATED: Original final paragraphs on 23andMe broken out as a separate post here.)

A few days ago, I noted that deCODEme, the personal-genomics spinoff of Iceland’s deCODE Genetics, looks to be offering disease-risk predictions based on surprisingly thin evidence. I looked into it a little more deeply, and while I’m not a geneticist or even a close approximation thereof, I’m still a little taken aback by how little deCODEme currently seems to be flying on where many of these conditions are concerned

To recap for a second, deCODEme — like the much better-publicized 23andMe (more on them in a moment) — offers a service for an “introductory” price of $985 that scans customer genomes in a million or so specific locations to yield a rough sense of their genetic inheritance and its potential influence on their health and physical characteristics. Using gene-chip technology, the company looks specifically for individual DNA “letters,” or nucleotides, that are known to vary between individuals. These single-letter variations, technically called single-nucleotide polymorphisms, or SNPs, essentially mark genes or other stretches of DNA whose altered function can contribute to (or protect against) disease or determine physical characteristics such as eye color.

deCODEme provides its customers with an analysis of SNPs that have been linked to 18 diseases, calculating a risk summary that compares an individual’s odds of getting sick to those for the population — well, a population — at large. The trouble, as we noted earlier, is that in many cases deCODEme bases this risk assessment on just one or two SNPs, when most diseases are thought to be influenced by tens or hundreds of different genes. That means the disease risks deCODEme calculates are very likely to be wildly inaccurate — potentially a serious state of affairs for the folks paying roughly $1,000 for this very analysis, even if deCODEme is careful to caution its users not to rely on the data as medical information. (Exactly what other use it might be isn’t entirely clear to me.)

Since I didn’t originally go through every one of the 18 diseases deCODEme analyzes, I decided take a closer look at the scientific foundation for the company’s risk assessments. It turns out that for fully half of those conditions, including colon cancer and heart attack, deCODEme is relying on just one or two SNPs to calculate disease risk. Risk for three conditions — Alzheimer’s disease, asthma and obesity — is based on a single SNP. (I’ve put together a chart listing the number of SNPs used to assess risk in all these conditions below the fold.)

In several instances, the very scientific publications that deCODEme uses to justify the use of one SNP also provide evidence for others that deCODEme, for some reason, has so far chosen to overlook. In Alzheimer’s disease, for instance, deCODEme cites this publication in support of its choice of a SNP called rs4420638, which appears to affect the gene that produces apolipoprotein E, or ApoE, a protein linked to Alzheimer’s susceptibility. The same study, however, lists four additional SNPs, all meeting criteria of statistical significance.

In heart attack, deCODEme relies upon this New England Journal of Medicine study to implicate a SNP known as rs599839. The company, however, overlooks thirteen other SNPs linked to heart disease in the same study, including one called rs1333049 that carried “the strongest association with coronary artery disease” in two separate studies involving almost 7,400 patients. Of course, deCODEme doesn’t seem to explain why anywhere on its Web site.

Similarly, the study deCODEme cites to support its use of one of two SNPs in colon cancer notes explicitly that “[m]uch of the variation in inherited risk of colorectal cancer (CRC) is probably due to combinations of common low risk variants” — which, translated into English, essentially means that the genetic risk of colon cancer is most likely spread across a large number of common genetic variants, each of which increases risk of the disease by a small amount. Yet deCODEme uses only two SNPs to assess its customers’ risk of colon cancer, and outside of some boilerplate language, mostly leaves it to individuals themselves to interpret what the service is telling them. (The company does make “experts” available to answer questions, although unsurprisingly that feature isn’t available to demo users.)

To be fair, the whole field of genetic disease analysis is still an imperfect science, not to mention a work in progress. And there are some conditions — both types of diabetes and Crohn’s disease, in particular — for which deCODEme bases its calculations on eight or more SNPs, which at least should give a fuller picture of the situation. That said, though, at the moment the site looks very much like it was thrown up in a hurry (it launched just a few days before 23andMe), which may explain the “introductory” pricing and the, well, introductory level of service here.

A chart listing the number of SNPs deCODEme uses for each disease-risk calculation follows after the jump.

Read the rest of this entry »

(UPDATED: See below.)

Personal-genomics vendors like 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.

Activating the reference genome (it can also be reached via a link on the deCODEme home page, although it’s fairly inconspicuous) brings you to a page — click on the thumbnail at left for a larger view — with four basic tools. “My Gene Profile” lets you browse through a variety of disease conditions — 18 at the moment — and to calculate your known genetic risk of developing them. Other tools predict your hair and eye color based on your genetic makeup, trace your ancestry and measure your genetic similarity to 53 ethnic groups from around the world, and let you share and compare your genetic profile, or genotype, with any “friends” or family members who’ve also joined up with deCODEme.

At first glance, that looks like a lot of information, but it doesn’t take long to find the deCODEme system intensely frustrating. (For the sake of readability, I’ll describe the demo genome as if it actually represented my own results — which, of course, it doesn’t.) The gene-profile section, for instance (see the thumbnail at left), lists the 18 conditions for which deCODEme thinks there is enough hard evidence linking genes to disease to calculate your genetic risks. Clicking on any of the diseases, a list that runs from age-related macular degeneration, or AMD (vision loss in the elderly), to type 2 diabetes, takes you to a description of the disease and several tabs that outline your particular susceptibility to the condition, the scientific underpinnings for the risk calculation, and a list of possible risk factors and preventative steps you might take in order to ward off your “genetic fate.”

All nifty enough. A quick look through the first several conditions reveals that “I” have an especially low risk of ending up with Alzheimer’s disease or 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.

Worse, at least for information gluttons like me, the “scientific details” available for each condition are pretty thin, and are presented in a way that isn’t likely to make sense to anyone but geneticists. (See thumbnail at left.) Many of the risk calculations seem to be based on a single SNP, which means they are bound to be misleading, since the evidence to date strongly suggests that most diseases are the result of interplay between dozens or hundreds of genes, any of which might either elevate your risk or offer protection against the disease. And there doesn’t seem to be any way to search for particular SNPs in your genotype, which would be useful if you happened to see a recent scientific disease-risk finding and wanted to see how it might affect you. (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.

The “physical attributes” tool is, at the moment, little more than a joke (thumbnail at left), as it does nothing but “predict” your hair and eye color. (Unsurprisingly, given that the reference genome is most likely Icelandic — deCODEme’s parent company is based there — “my” hair is likely red and “my” eyes are probably blue.) Presumably this section will offer more information as scientific knowledge accumulates, but at the moment it’s not clear why deCODEme included it at all.

Meanwhile, the “ancestry” page (left) serves up some very hard-to-decipher graphics that are supposed to illustrate your genetic commonality with the rest of humanity, but which just ended up confusing the heck out of me. (I subsequently figured out that the large numbers on each pop-up balloon rank your degree of relatedness with the various geographic regions, so “I” am most closely related to people of European descent, then those from Southwest Asia, then East Asia, and so on.) Clicking a balloon gives you further ethnic-group detail from that particular part of the world. For the moment, this and the related “ancestry” items look like curiosities and little more.

Finally, there’s “Compare Me,” the supposed heart of the social network deCODEme hopes to build around people and their genotypes (thumbnail at left). To say this function looks lame would be one heck of an understatement. Compare yourself to a friend or relative from the list and you get a cool-looking but almost information-free chromosomal map that purports to illustrate the genetic regions you have in common with the other individual, only without providing any information beyond colored bars on blobby chromosomes. (You can 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.

23andMe held its official launch today, as expected, and in the process managed to address a few of the nagging questions that remained after I reviewed its service over the weekend. “Addressed” is definitely the operative word here, though, because firm answers are still in short supply.

For instance, can personal genomics really make money for a startup like 23andMe? (To recap briefly for those joining the show already in progress, the company will scan your genome from a tube of spit you send in, and then post the results on a personal Web page for you to browse for information on your ancestry and disease risks.) The official answer is that no one knows, in part because the field is still remarkably young — just three days old, actually — and partly because 23andMe founders Linda Avey and Anne Wojcicki decline to outline their thinking in much detail. For instance, when I spoke to the co-founders earlier today, Wojcicki insisted that “it’s really too early to specify how we might monetize and derive value from the information we’re aggregating. We’ve thought about a lot of different ways to monetize it, but we’re not ready to talk about them.”

Since virtually no one sinks $8.9 million (what 23andMe raised in its first round) into a startup that lacks even an inkling of a business plan, however, it seems safe to say that the company is simply being circumspect. Here’s my best shot at connecting the dots.

To put it bluntly, the real money is likely to lie in selling corporations — specifically, drug companies — access to the aggregate genetic information 23andMe amasses from its customers. During a Webcast this morning, and again in our interview, Avey and Wojcicki emphasized 23andMe’s plans to conduct large-scale genetic-association studies using the genetic-data database their customers will essentially create. (Talk about your ultimate user-generated content.)

Both 23andMe founders, of course, stress that the company won’t disclose personal information, but that’s not really the point. If the company succeeds in attracting the hundreds of thousands of customers Avey and Wojcicki talk about drawing, it will be sitting on one of the largest genetic databases on Earth. And there’s no opting out of any research studies 23andMe wants to conduct at that point, either, since the consent forms to which customers must agree specifically commit their genome-scan results to future research. From that form:

23andMe Sponsored Research: We may analyze your genetic and other voluntarily contributed personal information as part of our scientific research with the purpose of advancing the field of genetics; your account information will never be associated with this research. We may also analyze your genetic and other contributed personal information for the purpose of reviewing and improving our services and creating new features and services. We may ask you questions and you may choose to give us information about yourself through surveys or other features on our website. Contributed personal information might include age, sex, geographic ancestry and diseases or conditions you have, or have experienced. It is entirely within your discretion to provide information or answer survey questions.

Collaborative Research: 23andMe may enter into partnerships with other organizations—non-profit and/or commercial—that conduct scientific research. Prior to embarking on any such projects, 23andMe will establish a research advisory committee to guide such collaborations. 23andMe may grant researchers associated with partner organizations access to our database of genetic and other contributed personal information after such organizations agree to maintain confidentiality consistent with our privacy policy. External researchers will have access to your genetic and other contributed personal information but they will not have access to your account information (e.g. contact and payment information).

In the Webcast and in our interview, Avey and Wojcicki tended to stress the prospect of academic studies over commercial research. For instance, 23andMe is in discussions with foundations that support work on Parkinson’s disease and autism, in hopes of first attracting large numbers of patients to the service, and then using their data to pin down how genetic differences play a role in each disease.

Still, neither academics nor disease-focused foundations are likely to provide the level of funding that could turn a company like 23andMe from an intriguing curiosity into a commercial powerhouse. Who does have that kind of moolah? Big Pharma and Big Biotech, of course. Recall, for instance, that 23andMe is backed not only by Google, but also by Genentech.

What’s more, pharma/biotechs stand to gain tremendous “value” from studies that help pinpoint which patients are most likely to respond to a particular drug, and which ones are likeliest to suffer serious side effects. (For instance, consider the Big Pharma personalized-medicine coalition we wrote about here, and think how much easier its job would be if it could tap a gene database like the one 23andMe envisions building.) It’s almost as if 23andMe and the drug industry were made for one another — as, perhaps, they were. (Wojcicki is a former biotech investor for a San Francisco hedge fund.)

This, of course, helps explain why Avey and Wojcicki are cagey about their business plans, because people might be a little reluctant to sign up for a service that’s effectively going to turn over their genomes to help Big Pharma make more money. I’m not saying they’d be correct about that — this sort of database could conceivable yield some major health benefits in the form of better-targeted drugs — just that public perceptions of the drug industry are bad enough that dwelling on such partnerships could put a damper on 23andMe’s plans.

This sort of strategy still isn’t a slam dunk, of course. With two other personal-genomics services in business or near to it (Navigenics and DeCode Genetics’ DecodeMe), competition for pharma deals could be fierce. What’s more, the genetic databases alone aren’t much good for these sorts of association studies, as researchers will also need to know more about individuals’ “environmental” circumstances — which include anything from their age and lifestyle habits to their medical and family history. If no one answers the surveys intended to elicit this information, the studies, and the dollars behind them, will dry up in a hurry.

A few other items that emerged from today’s discussions:

• 23andMe’s basic $999 fee covers use of its genome-analysis tools indefinitely — the company doesn’t plan to hit customers up for an annual subscription fee, unlike rival Navigenics. (Except that 23andMe may eventually launch some sort of advanced service that requires a subscription fee.)
• Avey and Wojcicki argue that charging $999 for their service alone would make 23andMe a going concern. At the same time, though, 23andMe is offering “friends and family” a discount of just 15 percent to get a genome scanned “at cost,” which suggests that the gross margin on that service is really not that great.
• Regarding the medical utility of the 23andMe scan, Avey says the company urges anyone concerned by a disease-related finding should re-confirm it with a standard genetic test.
• Apparently 23andMe customers will also have access to a range of additional information that’s not available on the company’s public site. Pointers to genetic counseling will be located there.
• The company is looking into launching some form of genome-related social networking in the future.

(UPDATED: See below.)

Personal genomics is finally here.

23andMe, the Google-backed startup that promises to let individuals search and share their personal genetic information, just unveiled its service on its Web site. (A formal announcement is planned for Monday. For links to our previous coverage, see the end of this post or click here.) For $999, anyone can spit in a plastic tube the company will send you, then mail it back for a kind of shortcut scan of their genome. Technically, the company will use gene chips to determine which of roughly 600,000 single-letter DNA variants, technically known as single-nucleotide polymorphisms, or SNPs, an individual possesses.

Those SNPs make it possible to get a rough sense of exactly which gene mutations reside in your genome, and thus what sort of probabilistic fate — nothing is predetermined, although your genes may predispose you to certain diseases or behaviors — your genetic code might have in store for you. 23andMe will put your genetic information up on what it says will be an extremely secure Web site for you to explore for disease risk, genealogy or personal ancestry.

23andMe, of course, isn’t the only company dipping its toes into these waters. A few weeks ago, another Silicon Valley startup called Navigenics made a big splay by “launching” its own personal-genomics service via press release, even though the company won’t be actually offering genome scans until next year. Navigenics is also determined to toe the ethical line, and so will only offer customers carefully selected information about their genome and what it says about the risk of developing particular diseases, essentially turning a full-genome scan into a sort of glorified set of individual genetic tests. That service, by the way, is slated to cost $2,500 plus an annual subscription cost of $250 or so. 23andMe is already looking like a far more interesting option, particularly for “infovores” who crave as much information about themselves as possible.

Iceland-based DeCode Genetics also just launched a personal-genomics service it calls DeCodeMe, which I’ll discuss in greater detail in a subsequent post.

23andMe’s new Web site is spare and clean, offering a concise explanation of the personal-genomics service:

The “Gene Journal” (click on the first thumbnail at left for a larger image) offers a number of tools designed to help you make sense of your genome scan, from an “odds calculator” that helps you determine what your individual genetic profile suggests about your risk of developing conditions such as heart disease or cancer. A “marker effects” chart sums up what’s known about the effects of different genetic variants, which may increase your risk of disease or offer protection against it. The site is chock-full of scientific references, background information, FAQs and even perspectives from medical doctors on the significance of genetics and various conditions.

In addition to the Gene Journal, 23andMe also offers a “family inheritance” section (second thumbnail at left) that lets you trace genes through your family history and even lay your genome out against those of relatives who’ve also been genotyped by 23andMe. An ancestry section (third thumbnail at left) shows you how genetically similar you are to people around the world, and to compare your ancestry with those of family, friends, and historical figures via maternal inheritance (technically, via mitochondrial DNA) and, soon, paternal inheritance (via markers on the male-only Y chromosome).

Best of all, at least for those curious enough and scientifically inclined, a “genome labs” section (fourth thumbnail) lets you browse through your genome via what appear to be straightforward and uncluttered graphical interfaces. You can see how similar your genome is to that of other individuals who have been scanned, either by comparing overall genomes or by simply focusing on particular inherited traits. A “genome explorer” lets you browse through your chromosomes, which are graphically represented in the last thumbnail at left. It’s also possible to look up particular SNPs directly to see the current state of knowledge linking them to particular physical traits or disease risks.

All that looks nifty enough, although it’s difficult to get too deep into the site without actually getting genotyped and seeing exactly how those tools work. The information available to the casual browser is certainly intriguing, and it’s far more detailed than Navigenics offers. (The DeCodeMe site looks similarly detailed, although you have to go through a free registration to see it.) If I get a chance to actually try out the service — assuming I’m ready to actually entrust one of these companies with my genetic information — I’ll let you know what it looks like from the inside.

On a purely business level, though, it’s not entirely clear how 23andMe intends to make money. Presumably the company will get into that during its scheduled Monday Webcast, and if not I’ll do my best to get a better sense of the company’s business plan.

Two other things are particularly striking about 23andMe’s service. The first is the complete absence of any reference to genetic counseling. The company seems to believe that people are capable of looking squarely at their genomes and the associated risk information it embodies without the need for support services aimed at helping them understand the context of their particular genetic variations. That may be right or wrong, but it’s very interesting in light of the effort Navigenics and other genetic-testing services like DNAdirect are taking to ensure that people don’t freak out if their gene scan delivers bad news. (More precisely, the possibility of bad news — once again, genes aren’t destiny, although they clearly influence the likelihood of various diseases.)

Similarly, and significantly, 23andMe also claims that it’s not delivering medical advice or actual genetic testing. For instance, here’s the relevant part of the site’s disclaimer, which you have to click through during the sign-up process:

23andMe’s service is not a test or kit designed to diagnose disease or medical conditions, and it is not intended to be medical advice. If you have concerns or questions about what you learn through 23andMe, you should contact your physician or other appropriate professional.

This is clearly 23andMe’s strategy for sidestepping FDA regulation of its service, and it strikes me as a fairly risky play. After all, 23andMe presumably offers you exactly the same information that existing, FDA-regulated genetic tests do (and then some, of course). On the other hand, it’s also entirely possible that a whole-genome SNP scan falls into a regulatory no man’s land, particularly if the company makes no attempt to market the service as medically useful. This will definitely be an area to watch.

Obviously, privacy and security will remain concerns for many people, although there’s no good way to gauge how well 23andMe will protect genetic data in advance. More concerning, perhaps, is the question of what happens if — or when — some of the company’s customers react badly to genomic bad news. Bioethicists have long feared that some people might commit suicide, get depressed, or experience other major problems if they get unwelcome news from genetic tests — thus the emphasis on genetic counseling at other testing services. If the worst does come to pass, the following paragraph in 23andMe’s disclaimer is unlikely to be much comfort.

You may learn information about yourself that you do not anticipate. This information may evoke strong emotions and has the potential to alter your life and worldview. You may discover things about yourself that trouble you and that you may not have the ability to control or change (e.g., your father is not genetically your father, surprising facts related to your ancestry, or that someone with your genotype may have a higher than average chance of developing a specific condition or disease). These outcomes could have social, legal, or economic implications.

However these issues play out, it seems clear that the launch of these services represents our collective first step into our new genome-centric future. Good luck to us all.

Further reading:

• Google, Genentech fund personal-genetics startup 23andMe
• Personal-genetics startup Navigenics, a competitor to Google-backed 23andMe, unstealths
• Craig Venter’s genome and our brave new world
• Personal genomics and the end of insurance
• Decoding 23andMe — Illumina spills the beans
• Genetic genealogy hits the big time
• Complete Genomics and BioNanomatrix rev up the fast, cheap and out-of-control genome race
• Will 23andMe and Navigenics lock up your genome and charge you for the key?
• Navigenics finally offers you a peek at your genome — except not really, and not yet

UPDATE: Wired’s Tom Goetz got a sneak peek at both 23andMe and Navigenics, and has written it up for the magazine and in a complementary blog post. Additional, the NYT’s Amy Harmon also got herself genotyped and wrote about it here.

UPDATE REDUX: I take a closer look at 23andMe’s likely business model in this subsequent post.

Over the last few months, startups like 23andMe and Navigenics have attracted a fair bit of attention for promising to let ordinary people search through their own genomes to better understand their disease risk, genealogy and ancestry. (For our coverage, see the links at the end of this item.) But one of the first major attempts to take a close look at them — courtesy of the November issue of Portfolio — left me with the distinct impression that these companies may not actually be anywhere near as revolutionary as they seem.

In fact, they might well be a crashing disappointment. Many people (myself included) have tended to look at these startups — particularly 23andMe, with its close ties to Google — as heralds of “personal genomics,” which I’d roughly define as the process of obtaining, searching through and interpreting your individual genetic quirks. If what the Portfolio piece depicts is even close to the truth, however, what these startups bring to market could be far more restricted — not to mention expensive — than most of us have probably imagined.

Let’s put it this way: How would you feel about a company that offered to scan your genes, only to lock up most of the information it finds so it can charge you thousands of dollars a year to dribble it back out to you? I’m not sure the term “personal genomics” would even apply here — it sounds to me a lot more like “corporate genomics,” in which getting access to your genome would require handing it over to a company that assumes it knows better than you do which parts of your genome you’re entitled to see.

If you’re not fond of that idea, you may be out of luck, because that’s pretty much exactly how David Ewing Duncan, the veteran science writer who authored the Portfolio piece, describes Navigenics’ business model:

Navigenics’ market is intended to be people who are healthy and affluent. Customers will be charged between $2,000 and $3,000 to have nearly a million genetic markers tested on a gene chip manufactured by Affymetrix. But Navigenics’ site won’t release all of the data collected by the chip, only the designated panel of gene tests. The company plans to offer information and telephone support from genetic counselors, and a subscription to its service will last a year. “Your DNA will be on file, and we’ll test it against new findings,” says Amy DuRoss, Navigenics’ head of policy and business affairs.

The “designated panel” of gene tests refers to the fact that Navigenics initially only plans to offer customers a set of 15 to 20 genetic tests for specific, treatable diseases. That’s in the same ballpark as what existing gene-testing services like DNADirect offer now, for a one-time fee that’s roughly comparable to what Navigenics apparently plans to charge each year. (Admittedly, that assumes the company charges $2,000 to $3,000 every year, when it might actually charge a lower subscription fee after a user pays a big up-front charge for the gene scan. So far Navigenics hasn’t said, although I’ve addressed the question to DuRoss.)

Navigenics and many outside experts believe that bioethics issues and the possibility that the FDA might want to regulate this nascent field justify exactly such a paternalistic approach. Anyone interested in that argument should really read Duncan’s piece — he clearly spent a lot of time with experts worried that individuals aren’t ready to deal with limited, contradictory and often-wrong interpretations of genetic data. (Most, although not all, of such concerns strike me as overblown, since people have been making life decisions based on limited, contradictory and often wrong scientific information — nutrition studies leap immediately to mind — for as long as that information has been available.)

What’s much more interesting to me is how neatly corporate genomics yields a classic locked-in, service-business model for the likes of Navigenics. In what other field, after all, could you even imagine locking an individual into an expensive service that subsequently provides only limited access to some of his or her most personal information? (Once you’ve paid thousands of dollars to have your genome scanned at one company, you’re unlikely to want to do it again somewhere else.) Credit reports and medical records are the closest analogies that come to mind, and both are freely available to consumers upon request. I can’t help thinking that the idea of becoming a “Microsoft of the genome” — i.e., a company able to charge again and again for updated versions of the same product — may have played a big role in Navigenics’ business thinking, not to mention that of its backers.

Maybe there are enough vain, wealthy people who’d be willing to put up with all that to make Navigenics a success — it’ll be very interesting to watch. Still, I can’t help thinking that corporate genomics doesn’t sound like much fun. To see why, flip back to the beginning of Duncan’s article, where Jay Flatley is scrolling through his own gene map, provided by 23andMe. Flatley, the hefty CEO of Illumina — a 23andMe partner that will perform gene scans for the startup — chortles as he discovers he has a “sprinting gene” associated with “fast-twitch” muscles, then looks to see if he’s prone to diabetes or “restless legs syndrome.”

It’s not at all clear from the Portfolio article if 23andMe plans to give its customers the freedom to make similar searches — the company apparently didn’t talk to Duncan, and to the best of my knowledge hasn’t said elsewhere how it plans to make information available to its customers. Still, the anecdote at least suggests that 23andMe may have a broader vision than Navigenics.

Here’s how Duncan describes the company’s plans, presumably as channeled by Flatley:

When 23andMe goes live, customers will be asked to spit into short plastic tubes or to swab cells from inside their cheeks and mail in the sample. 23andMe will then analyze the data in relation to reams of information about ailments, treatments, diet, and ancestry and compare the results with those of thousands of others who have been tested for genes associated with diseases and other traits.

The cybersynthesis will be channeled into a customized DNA diary on the website. The company is considering a feature that would allow people to then link their personalized pages to those of others who share their DNA—fellow sprinters, say, or people at risk for Alzheimer’s—just as you can now link to college chums on Facebook.

Of course, the idea of sharing your DNA with others via a new online social network — GeneBook? — might seem to many people every bit as creepy as the idea of corporate genomics seems to me. So let’s hope there’s plenty of room for a variety of approaches as personal genomics evolves, and that 23andMe and Navigenics really do complement each other in this respect — at least enough to offer potential customers a real choice.

Further reading:

• Google, Genentech fund personal-genetics startup 23andMe
• Personal-genetics startup Navigenics, a competitor to Google-backed 23andMe, unstealths
• Craig Venter’s genome and our brave new world
• Personal genomics and the end of insurance
• Decoding 23andMe — Illumina spills the beans
• Complete Genomics and BioNanomatrix rev up the fast, cheap and out-of-control genome race

Featured companies: 23andMe, APT Pharmaceuticals, Hyperion Therapeutics, Isis Biopolymer, Virogenomics

UPDATED at 10:30am PT.

APT Pharma raises $22M for transplant and heart drugs — Burlingame, Calif.’s APT Pharmaceuticals, a specialty pharma currently focused on a drug to fight organ-transplant rejection, raised $22 million in an extension of its first funding round. Investors included Versant Ventures, Great Point Partners, Vivo Ventures and Charter Life Sciences.

APT, which acquires its drug candidates instead of developing them itself, has raised a total of $30 million to date. Its lead candidate is an inhalable form of the immunosuppressive drug cyclosporine, called Pulmoniq, which is intended to prevent rejection and improve survival in lung-transplant patients.

23andMe reveals size of first funding round — PE Hub reports that Google-backed 23andMe has raised $8.9 million, citing a regulatory filing. Apparently, however, this isn’t new funding. When the personal-genomics startup (see our coverage here and here) announced its funding back in May, all we knew was that Google had invested $3.9 million, with unspecified participation by Mohr-Davidow Ventures and New Enterprise Associates bringing the round to somewhere around $10 million. I’m now told that the $8.9 million figure is just the total of that first round, which also included participation of some angel investors.

Hyperion Therapeutics drums up $15M in debt — The South San Francisco specialty pharma pulled in $15 million in debt financing from Comerica Bank and Life Sciences Capital. Hyperion, which raised $40 million in equity just a month ago (see our coverage in the first item here), in-licenses drug candidates from other companies and runs them through clinical trials.

The company also announced a slate of senior executives, many of them from Ucyclyd, a Medicis Pharmaceutical unit with which Hyperion recently concluded a licensing deal. Hyperion’s lead drug candidates address a gastrointestinal disorder and liver disease.

Drug-delivery company Isis Biopolymer draws $1.5M — Isis Biopolymer, a Warwick, R.I., device maker focused on a new drug-delivery technology, raised $1.5 million in seed funding, VentureWire reports (subscription required). GP Bullhound of London provided the funding.

Isis is exploring ways of using electrophoresis, a low-level electric current that can theoretically drag large, charged drug molecules across barriers like skin, as a new way of delivering drugs without needles via a patch-type device — one the company tells VentureWire is “more of a Band-Aid than an iPod.” The company has launched a $5 million first round of fundraising, and expects to begin human trials of its patch early next year.

Virogenomics gets $2M grant for bio-sensor work — NIST awarded Tigard, Ore.-based Virogenomics a $2 million grant to develop a system that tests for a variety of biological molecules at once, the company said. A closer read of the company’s press release suggests that it is developing a kind of protein chip — essentially a way of scanning for the presence of particular proteins in a sample such as blood serum — that relies on some sort of microelectronic “transducers” to signal detection.

At least from this description, it’s not really clear why this sort of technology would warrant a NIST grant, as any number of companies are developing similar-sounding protein chips. Virogenomics is something between a biotechnology firm and an incubator; the company says it licenses promising technologies and develops them in-house until it can spin them off into new startup companies. (Virogenomics strikes me as a pretty odd name for this sort of tech-development outfit, unless it’s a failed biotech that later developed a new purpose, although that’s just a guess.)

Things are starting to get crowded in the race to sequence entire human genomes quickly and relatively cheaply — usually meaning somewhere in the territory of $1,000 per genome, compared to the $100,000+ it costs with current technology. At least four startups have taken on the $1,000 genome challenge, two of which have already been acquired by larger companies. (See details at the end of the first item here.)

Last week, two relatively new venture-backed startups — Complete Genomics, of Menlo Park, Calif., and Philadelphia’s BioNanomatrix — considerably upped the ante in what I’ve started to think of as the “fast, cheap and out-of-control” genome race when they announced a joint venture that aims to sequence an entire human genome in eight hours for less than $100. (Technically, it appears that this figure applies only to a single set of the 23 paired chromosomes every individual carries, so a spiffy new high-resolution “diploid” genome like Craig Venter’s would presumably take more like 16 hours and cost somewhere around $200. That’s still dirt cheap, of course.)

This is, of course, some mighty big talk from companies that virtually no one had heard of until recently. (See our coverage of Complete Genomics here.) The companies still aren’t saying exactly how they hope to pull off this feat, although they’ve disclosed a bit more detail in their latest announcement. Apparently they plan to adapt a “novel DNA sequencing chemistry” (presumably from Complete Genomics) and combine it with a “linearized nanoscale DNA imaging” scheme (BioNanomatrix’s technology, it appears) in a way that allows them to read up to long DNA stretches of up to 100,000 nucleotide bases — those DNA “letters” we’re always carrying on about — at a time.

What, exactly, that means and whether it’s possible is something the experts will have to hash out. The best I can figure at the moment is that since BioNanomatrix specializes in “nanofluidics” systems — little gizmos that are essentially labs-on-a-chip at near-atomic dimensions — it might somehow be possible to snake long stretches of DNA into a tiny channel on a chip, where having the molecule laid out end-to-end might make it easier to tag and read out the bases in one fell swoop. But that’s just a guess at this point.

Another interesting element here is that these companies bluntly acknowledge the direct threat they pose to today’s genetic-testing industry. Existing genetic tests usually rely on antibodies or other probes that identify a single gene variant; newer varieties examine a handful of single-base variations that have been correlated with something like your risk of heart disease. The ability to read out an individual’s entire genome, however, would effectively demolish the need for such tests, as any the information the tests could turn up would be right there in your genome. (The same issue arises, albeit in somewhat less-dramatic form, with the SNP genome “outlines” that startups like 23andMe and Navigenics would like to provide — our coverage is here, here and here.) This is a potentially huge problem for companies like DNA Direct, one of the first consumer-oriented genetic-testing startups. Expect to see some fireworks on this front before it’s all settled.

The joint venture recently received an $8.8 million grant from the National Institute of Standards and Technology, which for some reason got virtually no attention at the time but for the noble exception of the Philadelphia Business Journal.

Here’s some additional detail from the press release:

“We tried to approach this project from the perspective of the clinician, looking at the requirements and opportunities associated with incorporating genetics into routine clinical diagnostics,” said Dr. Radoje (Rade) Drmanac, chief science officer and co-founder of Complete Genomics. “Accuracy, speed and low cost were paramount considerations. While there are a number of powerful and elegant sequencing strategies available or under development, we determined that we needed a completely novel approach to overcome their inherent limitations and achieve our $100 cost objective. We are optimistic that the combination of our two highly innovative approaches has a good chance of success. ”

The joint venture has proposed adapting a novel DNA sequencing chemistry combined with linearized nanoscale DNA imaging to create a system that can “read” very long DNA sequences of greater than 100,000 bases at high speed and with accuracy exceeding the current industry standard. By condensing a wide range of genetic tests into a single, cost-effective platform, the proposed technology has the potential to enable improvements in the diagnosis and personalized treatment of a wide variety of health conditions, as well as the ability to deliver individually tailored preventive medicine. The $100 genome would also have important applications in medical research and drug development.

What if you around your genome — the full details of your personal DNA — on your cellphone and compare it instantly to the DNA of a prospective dating partner simply by sharing over a WiFi connection?

That just one bizarre thought that comes to mind, now that Jay Flatley, chief executive of Illumina, says he is already carrying around his genotype on his iPhone. Check out David Hamilton’s post on all this over at VentureBeat LifeSciences.

Flatley is one of the first to do that, because his company is partnering with 23andMe, the secretive personal-genomics startup founded by Google co-founder Sergey Brin’s wife, Anne Wojcicki, and now backed by Google and Genentech. Flatley spilled more details about what it is up to, including that the company’s initial emphasis will be on ancestry, although it seems likely that disease will be studied.

First, it was self-described 23andMe investor Martin Varsavsky who spilled some early information about the secretive personal-genomics startup founded by Sergey Brin’s new wife, Anne Wojcicki, and now backed by Google and Genentech. (See our coverage here.) Now more details about 23andMe’s plans to help individuals map their own genomes are emerging, courtesy of Illumina, a gene-scanning company partnered with the startup.

At an investor conference yesterday, Illumina CEO Jay Flatley sketched out 23andMe’s plans and even reviewed its first product, Forbes’ Matthew Herper