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TODAY’S HEADLINES:

• Defibrillator maker Cameron Health takes in $14M (VBLS exclusive)
• Miramar Labs gets $20M for “aesthetic” devices (VBLS exclusive)
• Nellix raises $6.5M for aneurysm grafts (VBLS exclusive)
• Vessel-clog remover Chestnut Medical pulls in $7.8M (VBLS exclusive)
• Consumer genetics tester DNA Direct receives $7M (PDF release)
• Precision Thera again prowling for venture funding (VentureWire)
• Cancer-drug maker ChimeraCore raises $4.3M (VentureWire)
• Kai Sensors pulls in $2.2M for radar-based sensors (VentureWire)
• ProNAi raises $6M for DNA drugs, seeks $20M more (VentureWire)

(NOTE: Items on Cameron Health, Miramar Labs, Nellix and Chestnut Medical went up over the weekend as separate items; click the links above for details.)

Consumer genetics tester DNA Direct receives $7M – Talk about hiding your light under a bushel. The San Francisco startup DNA Direct, which offers a-la-carte gene tests directly to individuals over the Internet, announced on Feb. 27 that it raised $7 million in a second round (PDF link) of funding.

Oddly, though, I haven’t seen the announcement picked up anywhere. I only learned of it from DNA Direct’s own in-house blog, which I happened across while searching for something else entirely.

In any case, Lemhi Ventures and private investors from the startup’s first round provided the funding. The company said it will use the money to help expand its efforts to “integrate” its genetic tests into doctors’ offices and clinics. DNA Direct’s first project in that regard is a Web-based guide to prenatal genetic testing called Prenatal Primer, which pregnant women can access after a referral from their doctor.

Precision Thera again prowling for venture funding – Surprise, surprise — Precision Therapeutics, the Pittsburgh cancer-diagnostics company that lost both an IPO and a potential merger in short order, is apparently once again looking for venture funding, VentureWire reports. No kidding. As I noted earlier this month, Precision had more debt than cash and a still-significant burn rate as of last Sept. 30, and things can’t have gotten much better since then.

The VentureWire story doesn’t offer many additional details, except for the fact that Precision CEO Sean McDonald hopes to close the deal by this summer. McDonald won’t even say how much the company is looking for, however, which doesn’t exactly inspire confidence. Existing investors in the company are also close-mouthed about its fundraising prospects.

For what it’s worth, McDonald also hinted that Oracle Partners, a hedge-fund affiliate of the presumably now-unwinding blank-check company that was going to acquire Precision, may be involved in the funding.

TODAY’S HEADLINES:

• Arriva Pharma recaps with $6M for respiratory anti-inflammatory drugs (release)
• Genetic tester Sciona gets another $5.2M, distribution deal (VentureWire)
• Joint resurfacer Arthrosurface takes in $4M (release)
• Automated medication dispenser MDG Medical receives $14M in debt, equity (release)
• California Stem Cell raises funds for heart, neurodegenerative treatments (release)

Arriva Pharma recaps with $6M for respiratory anti-inflammatory drugs – Arriva Pharmaceuticals, an Alameda, Calif., drug developer focused on inflammatory respiratory disease, raised $6 million in a convertible-stock funding that recapitalized the company. Investors included Nordic Biotech and MPM BioVentures.

Arriva is working on a bioengineered form — that is, one that can be manufactured via biotech methods — of an enzyme called alpha-1 antitrypsin, which is currently derived from donated blood. Natural deficiencies of the enzyme are linked to lung disease, and Arriva hopes to use a manufactured version to treat hereditary emphysema.

The company has been locked in litigation over the rights to the enzyme with the Florida startup AlphaMed Pharmaceuticals (see our coverage here), and filed for bankruptcy protection last year, according to VentureWire. Now emerging from that process, Arriva is looking to start mid-stage, phase II trials of its recombinant enzyme. Arriva is a majority-owned unit of the Dutch firm Arriva Pharmaceuticals BV.

Genetic tester Sciona gets another $5.2M, distribution deal – Sciona, a Boulder, Colo., startup that offers genetic testing related to health and well-being, raised $5.2 million in a third funding round, VentureWire reports and the company confirms. Investors included Burrill & Co., BioVentures Investors, DSM Ventures, DFJ Esprit and BASF Venture Capital. The funding brings the company’s third round to a total of at least $15 million.

Sciona claims to combine nutrition and genetics in order to help individuals live healthier lifestyles. Its tests measure genetic predisposition to particular diseases and generates nutrition, exercise and lifestyle recommendations. You might think this sort of thing sounds like it runs way ahead of what science actually knows about genetic influence on our physical traits and disease susceptibility — and you’d almost certainly be right. The glitzy Web site for the company’s tests, which resembles a late-night TV infomercial, doesn’t exactly inspire confidence in the company’s scientific underpinnings, either.

On top of all that, Sciona just reached a distribution arrangement with Spa Team International that will provide the companies tests through a network of 1,000 spas nationwide.

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.

(UPDATED: See below.)

(NOTE: This is the second of two posts on Knome, a newly launched startup that offers to sequence your entire genome for $350,000. For part one, which provides a broad overview of Knome’s whole-genome sequencing and how it differs from services offered by other personal-genomics companies, click here.)

First things first: The company’s name is pronounced “nome,” as in the Alaskan city. A bemused debate over proper pronunciation has circulated among folks in and around the personal-genomics world ever since Knome’s teaser Web site appeared several months ago. (Personally, I’d been hoping we’d all be calling the company “K-nome.”) “The word ‘genome’ sounds a little like ‘Gee, know me’,” says Jorge Conde, Knome’s CEO. “We took off the ‘G’ and just make it ‘know me’.” Only you don’t pronounce a long “e” at the end.

Founded earlier this year, Knome aims to establish whole-genome sequencing as the “gold standard” for personal genomic analysis. (Their press release is here.) The company draws a sharp contrast with other recent personal-genomics companies such as 23andMe, arguing not only that full-genome data is far more solid and reliable than the rough-and-ready scans 23andMe and its ilk rely on, but that Knome is especially devoted to assuring the privacy and confidentiality of its users’ genetic data. (More on that in a moment. For more on the potential benefits of full-genome sequencing, see part one of our Knome coverage.)

Of course, there’s also a larger question hanging over Knome and any other companies that aim to tackle whole-genome sequencing at this early stage: Will they be content to remain boutiques for the wealthy, or will they aggressively drive down prices as sequencing costs fall in order to appeal to a mass market? It’s probably too early to say, although odds are good that competition with other personal-genomics companies will put some serious pressure on prices over time.

So far, however, Knome is most definitely a boutique. One telltale sign: Conde always refers to Knome’s customers, those earliest of early adopters of the new genetic technology, as “clients.” The company isn’t especially forthcoming about most of its operations — where its sequencing technology is involved, for instance, Conde merely emphasizes that Knome is “technology agnostic.” And it has even less to say about its potential clients — some of whom, Conde says, have approached the company via third parties in order to remain completely anonymous.

Knome has received more expressions of interest in being sequenced than it has capacity to process at the moment. As a result, it has limited initial enrollment to 20 people, who will be admitted on a first-come, first-served basis once they’ve completed an initial screening step.

Prospective Knome customers will eventually be able to sign up for the service online, although for now the company’s Web site only lets customers request additional information via email. Even once online registration is available, that step will primarily involve working through an “education and disclosure” process intended to ensure that customers know what they’re getting into, particularly in terms of any potential bad news that might be lurking in their genes.

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

(UPDATED: See below.)

(NOTE: This is the first of two posts taking a close look at Knome. For part two, which examines Knome’s business model and how its service works — based largely on an interview with Knome CEO Jorge Conde — see here.)

First it was genomic pioneers James Watson and Craig Venter. Next up are the first ten volunteers in Harvard geneticist George Church’s Personal Genome Project. And now just about anyone can have their entire genome scanned in loving detail, courtesy of Knome, a Cambridge, Mass., startup that’s launching its service today.

Anyone, that is, who can spare $350,000 to cover the cost of sequencing and subsequent analysis and interpretation of the results. And who’s willing to wait in line, since Knome’s initial service will only be available to 20 people. (See the company’s press release here.) I’ll have more on Knome’s business and how the service will work in a subsequent post, which I’ll link to here when it’s done. (UPDATE: That second post is now up here.)

We’ve extensively covered personal-genomics startups such as 23andMe and Navigenics, which along with DeCode Genetics’ DecodeMe are offering individuals a first broad look at their personal genetic makeup. This is a big deal for a number of reasons, not least of which is the fact that your genome has played a major role in making all of us who we are. Our DNA links us not only to family and ancestors, but to groups of people scattered across the globe who share one or more of our particular genetic quirks. In no small measure, our genomes define what it means to be human.

All this previously invisible information is now increasingly accessible — albeit at first to those with the means to pay for it — and that’s likely to have major repercussions for individuals and society as a whole. For an initial take on that subject, see here.

Companies like 23andMe, however, don’t provide a full readout of a person’s DNA so much as a kind of abbreviated map to the genome. (These companies scan for particular DNA letters — technically known as single-nucleotide polymorphisms, or SNPs — that are known to vary among individuals. Collections of SNPs serve as a kind of catalog to much of the genome.) That shorthand map is still potentially useful in a number of ways, such as tracing ancestry or calculating your genetic predisposition toward heart disease or diabetes. By definition, however, such bare-bones SNP maps will also miss things — perhaps a lot of them. They’re the genomic equivalent of rough first drafts, which will undergo continuous revision as scientific understanding grows, SNP-scanning technology advances and sequencing costs fall.

Knome, by contrast, plans to offer its customers the whole genetic kit and kaboodle — a full readout of all six billion DNA “letters” of your genome. Genomics just doesn’t get any more personal than this. To put this in perspective, 23andMe or DecodeMe between 600,000 and a million SNPs. (The costs to the customer for a SNP scan is roughly $1,000 to $2,500, depending on the company.) In a scientific sense, a whole-genome sequence bears the same relationship to a SNP map that reading a book does to skimming skimming its index. Both expand your knowledge, but one is vastly richer, more detailed and illuminating than the other.

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

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.

(UPDATED: See below.)

So at long last, one of the personal-genomics companies we’ve been writing about since May has finally launched its service. Navigenics, the Redwood City, Calif., startup that promises users a “personalized genetics analysis” so they can better manage their health risks, kicked off its business yesterday with a drum-rolling press release and a story clearly handed to the WSJ. (For a non-subscription version, click here.)

Except that, as it turns out, Navigenics hasn’t really launched anything. Yes, the company announced that it’s raised a second round of funding, for a total of more than $25 million — more on that below, including the fact that I’m told Google has also quietly invested in Navigenics — but neither its release nor its Web site provide any details on what its genetic-testing service will look like, what it will cost, or how individuals can order it. According to Amy DuRoss, the company’s head of business affairs, Navigenics won’t actually start offering genetic-test results until the first quarter of next year, so if you were hoping to jump on the personal genomics bandwagon now, you’d better brace yourself for disappointment.

What Navigenics is doing, according to DuRoss, is taking pre-orders for the testing service, which will essentially scan your genome for individual DNA “letters” (technically, nucleotides or base pairs) that differ from those in established “reference” genomes. Scanning several million of these single-nucleotide polymorphisms, or SNPs, should give you a shorthand read of your individual genetic variation. Studies of SNPs and how they differ in people prone to one disease or another are starting to roll out with great regularity, providing for the first time a solid scientific basis for linking your particular genetic profile to disease risk.

Navigenics, however, doesn’t plan to give you full access to that readout. Instead, as I noted earlier, the company will store your gene profile and then provide you with carefully limited information that essentially amounts to particular genetic tests that it believes have been medically validated. Even then, it will only offer them for conditions that can be treated or prevented. (In other words, you probably shouldn’t count on learning whether you have Huntington’s disease here.) Over time, as more of these genetic variations are linked to disease risk, Navigenics will tell you how your genome stacks up.

All this comes at a cost, and while it’s nowhere near as expensive as it earlier sounded like it might be, it’s still not remotely cheap. Pricing still isn’t final, but the company’s DuRoss says an initial registration fee will run around $2,500 and will cover a year of the Navigenics service. Additional years will probably be priced at around $250. That makes Navigenics’ offering substantially more expensive, at least in the short run, than most individual genetic tests you can order directly from companies like DNAdirect. (The main exception is the breast-cancer test for the BRCA1 and BRCA2 gene variants, which can cost upward of $3,000 thanks to the extortionate price charged by the patent holder, Myriad Genetics. No word yet on how Navigenics plans to finesse that fee, or whether it thinks it can sidestep it.)

DuRoss says Navigenics will initially offer about 20 tests, although if you’re curious which ones those will be — well, you’ll just have to wait. It’s not even exactly clear how the company will begin to take “pre-orders” for the service, given that the Web site still doesn’t feature any information on the subject beyond an email link through which people can request more information.

By the way, DuRoss also says that Navigenics doesn’t plan to lock away your genetic information, as I earlier suggested. Supposedly the company will supply “raw” genetic data to individuals upon request, although exactly how and in what format it might do so wasn’t entirely clear from our conversation. (DuRoss talked about the raw data as a dump equivalent to 2,000 printed pages, which isn’t a particularly useful way of thinking about it.) It still sounds to me as if Navigenics is counting on locking its customers into its service as much as possible, although over time, perhaps it will be possible to transfer your genome scan to another service. A lot will depend on the details of how all this gets implemented, and as you have probably gathered by now, most of those still simply aren’t available.

In other words, it still sounds a lot more like corporate genomics than personal genomics to me. Personally, I’m not that excited about a service that’s going to decide when and how to dole out my own genetic information to me in the form of limited genetic tests. That sort of approach made perfect sense when it simply wasn’t possible to economically look at more than a handful of genes at a time, but since that’s no longer the case, I don’t really see any excuse for a company planning take in these sorts of sums from customers to arrogate to itself what parts of my genome I’m entitled to look at. This makes me all the more curious to see what sort of tack the much buzzier 23andMe (see links to our previous coverage here) ends up taking on this front.

Speaking of 23andMe, the Google-backed startup now may launch its similar personal-genomics service — one combining both disease and genealogical information — by the end of the year, according to the WSJ. Although 23andMe has been quieter than Navigenics, its profile has been higher because of the Google involvement and because its co-founder Anne Wojcicki is married to Google co-founder Sergey Brin.

Recently, though, an individual familiar with the deal told me that Google has also quietly invested in Navigenics, although neither company will comment. That would make sense given that Navigenics also just lined up another 23andMe investor, Mohr Davidow Ventures, for its second funding round. (Kleiner Perkins Caufield and Byers and Sequoia Capital also participated.) Earlier this year, it looked like 23andMe and Navigenics were linking up powerful backers for a horse race; now, though, I’m starting to suspect that a lot of investors are simply hedging their bets — Google, apparently, among them.

UPDATED: Added another several paragraphs and the rumor on Google’s investment in Navigenics.
UPDATE REDUX: Upgraded sourcing on the Google info, which comes from someone with first-hand knowledge of the deal. Of course, no one is officially confirming it yet.

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 disap