Yesterday, I donated my personal genome at the Coriell Institute for Medical Research to participate in the Coriell Personalized Medicine Collaborative. I also got lost in the Camden ghetto and learned to hate New Jersey. In all, it was a mixed day for magnanimity.

What is the Coriell Personalized Medicine Collaborative? (PMC)

So, what if a government institution, figuring they’ve already spent $3 billion dollars on the Human Genome Project, shrugged, and threw down a few spare million to learn how this information is actually relevant to medicine? What if this study had the institutional support of the medical establishment, the scientific establishment, and American government and thus was unlikely to try something illegal like operate a non-CLIA laboratory or suggest profit-sharing to doctors to sell tests?

And what if it was free?

Thus: the Coriell Personalized Medicine Collaborative.

The Coriell genomic test itself is like direct-to-consumer tests Navigenics, 23andMe, deCODEme… but better. Functionally, the tests use the same technology: Oragene saliva kits, Affymetrix SNP chip machines, and a web portal for reports. Both strive to test for all meaningful genomic variations that aren’t already patented, are identifiable by a single nucleotide change, and don’t risk the crushing liability and ethical problems of reporting untreatable, terminal genetic diseases like Huntington’s. But Coriell’s genomic test so much better because:

• It’s free. Navigenics costs $2500 plus subscription, 23andMe and deCODEme both cost $1000.
  So: More people can and will participate and benefit. I believe Coriell has already recruited more participants than all other direct-to-consumer competitors combined.
  So: The resulting medical research will be better because the sample size is bigger.
• It’s newer, so it includes more, newer, better reviewed research.
  So: Test results will be qualitatively and quantitatively better.
• It’s medical information and is presented as such.
  So: Medical and pharmagenomic tests like “Warfarin metabolism” can be offered. (Useful if you ever need to take blood-thinning drugs.)
  So: Doctors can apply test results to practice better medicine. (How can a doctor credibly use “explicitly non-medical” information in medicine? Even if non-medical test results were available, the doctor would be obligated to repeat the test.)
• It’s offered by a well-established medical research institution. (founded: 1953)
  So: Institutional support and funding exists.
  So: The Coriell institution can be trusted to last… unlike unprofitable, venture-funded companies less than ten years old.
  So: All people, including patients, doctors, and scientists will be more willing to invest time and money in the program.
  So: The medical establishment will be more comfortable applying the test results in medical practice.
  So: The scientific establishment will be more comfortable trusting the medical research produced by the program.
  So: Patients, medicine, and science will better benefit from their test results.

From the Coriell website:

The Coriell Personalized Medicine Collaborative is a pioneering research study that seeks to explore the utility of using genome information in clinical decision-making. The goal is to better understand the impact of genome-informed medicine and to guide its ethical, legal and responsible implementation. This research study is a forward-thinking, collaborative effort involving volunteer study participants, physicians, scientists, ethicists, genetic counselors and information technology experts. The study seeks to enroll 10,000 participants by the end of 2009, with an ultimate goal of 100,000 individuals.

With a budget of “the government,” no accountability to profit, a goal of “research,” scientific and medical institutional support, and the low, low price of free…

…screw it. I was going to say something banally optimistic like “I’m confident Coriell will continue to succeed in their endeavor to integrate genomic science into medicine.” But, really, how can Coriell fail? Not profit? They’re non-profit and funded by the government. Not get enough volunteers for their free, riskless, non-invasive saliva test worth over $2500 in sexiest, newest medical field? The government will pay to hand some nurses orgenes and waivers to distribute at a few hospitals and universities. Not able produce any successful research? Impossible: the successful research will then be “we were unable to produce any successful research.”

Basically, the only way Coriell can screw this up is if they embarrass themselves mishandling samples. This is unlikely considering they operate an international biobank of human cell lines. I met the lab director for the Coriell PMC. Where DTC companies were busted by the government for operating without certification, this guy rattled off CLIA specifications like they were trivial. Considering the hundreds-of-thousands living cell cultures preserved in liquid-nitrogen-cooled vats downstairs, to him, for a few SNP chip machines and some dead somatic cells in spit, they were.

The good news for genomic testing DTC competitors 23andMe, Navigenics, and deCODEme is that they were the trailblazers and that Coriell is following their lead. The bad news is that another word for “trailblazer” is “cannonfodder.” Sure, you might get a statue, but you’re going to be dead. (It’s typically bad for business when an established, well-funded, experienced competitor releases a better version of your product for free.) So what will these statues look like?

• 23andMe: 23andMe is the biggest winner because it has already accomplished everything it was founded to do: launch the biologist wife of a nerdy silicon valley billionaire into high society while ostensibly achieving something important. Technically, deCODEme launched before 23andMe, and technically, a .5MM SNP chip isn’t a genome, but 23andMe, particularly, Anne Wojcicki, will be remembered for being the first to realize the $1000 genome. (If this is confusing, what’s called “philanthropist” is called “web 2.0 startup founder” in Mountain View, CA.)
• deCODEme: deCODE clearly expected to profit from deCODEme eventually, but how does one expect to compete in a market with immortal competitors like Coriell? deCODE will continue to sell its genomic tests, but deCODEme has been notably quiet lately and will likely continue to get quieter… Fortunately, deCODE didn’t invest much into deCODEme since they already have a lab and websites are comparably cheap.
• Navigenics: To Navigenics, the “serious medical brand” of DTC genomics, Coriell’s PMC isn’t so much “bad news” as it is a big “F-You” shouted self-consciously at effigy of Craig Venture in a Navigenics t-shirt.  It wasn’t enough to demolish Navigenics’ business model; Coriell had to completely discredit any hope of Navigenics ever being considered as a credible medical tool by any medical establishment. Fortunately, “Navigenics does not provide medical advice, diagnosis or treatment,” so that’s not a problem for Navigenics… right?

While I know that Coriell will be successful, the degree of that success is uncertain. Coriell is a non-profit science company trying to reach the mass public, so its greatest weakness will be marketing. For example, a Google search reveals 471 hits for “Coriell Personalized Medicine Collaborative” versus 365,000 for 23andMe.

Coriell will also need some help with their web software portal. (for example: coriell.org is temporarily offline). But as a smart 15 year old can run a basic web server, Silicon Valley has already built several good genomic web UIs for “inspiration” (hint: Print Screen + View Page Source + Django | Ruby on Rails == ++Inspiration), this is an feasibly addressable issue.

So what does the Coriell PMC mean for the future of genomic medicine?

First, the market for expensive SNP chip tests for unpatented mutations is dead. Genomic testing companies will still exist, but they’ll be more like products offered by commodity medical test providers than sexy consumer brands. I must repeat: any customer of DTC genomic testing can get a better test for free from Coriell. There is no reason for anyone to ever again buy any DTC genomic test other than to conspicuously spend money (up to 100,000 participants, but that is enough to kill today’s $1000 SNP test market.)

A market for expensive patented genomic tests like BRCA will continue to exist because it’s illegal for organizations like Coriell to provide them for free (even though they could easily do so). However, the good news for consumers is that these patents will become increasingly unenforceable as full-genome sequencing replaces SNP chip technology. At first, testing companies will refuse to provide official interpretations of legally conflicted results, leaving them as “exercises for the reader.” But as patents are public and “trade secret” medical science is quackery, eventually, BRCA-type patents will seem ridiculous and fade away. Maybe not in five years, but certainly in a few decades.

Ultimately, if the government is willing to pay to bring SNP chip genome testing to the masses, then it will be willing to pay to bring genome sequencing testing to the masses when it’s cheap enough. It will be. Eventually, a genome sequence will be performed with as much institutional banality as childhood vaccines. Your genome will go into some medical record where it will be used to aid every medical decision. This will normal and unnoticed except the occasional slow news day when MSN Health reports some prole alarmist dreck like “Is Your Genome Really Private?” or “Top Ten Mutations That Affect Your Health.”

Every variable: cost, medical application, availability, liability, institutional capacity… inexorably points to this the “genome banality scenario” except one: some pseudo-religious aversion to sharing one’s genome. However, the pressures to solve mounting health care costs, provide better care, and to avoid liability will be too great. GINA may protect Americans from discrimination based on what one’s genome says, but it does NOT protect discrimination based on not having a one’s genome on record.

EDIT: GINA statement may wrong, I’m looking into this..

23andMe has the most will to succeed, followed by Navigenics, followed by deCODEme. All three have sufficient potential funding, so will (and luck) will most decide who will survive The Chasm.

Yesterday, I mentioned a popular business graph called “The Chasm.” The Chasm is start-up business jargon for the difficultly businesses tend to experience growing from a market of early adopters to the general public. This is because customer motivation changes: early adopters buy because they like new technology, but most people buy because they want to solve problems with minimal effort.

Today, DTC (direct to consumer) genomics is still in its “innovators” market phase, though continued coverage in Wired and regulatory attention suggests that the market is approaching an “early adopter” transition. But which genomics start-ups will survive to cross The Chasm to reap the riches of a greater market?

Two factors keep start-ups alive during tough times:

1. Funding: No money, no payroll, no people. Start-ups, particularly venture-funded start-ups, are profitable until they are bigger, more mature companies.
2. Will: How much does a start-up want to succeed, and what do will its leaders lose if it doest? Does your company have the morale and reputation to recruit talent and investment to beat the competition, weather setbacks, and persist through regulatory struggles?

Consider the “big three” DTC start-ups: 23andMe, deCODEme, and Navigenics. Other competitors are possible, but identifying them is speculation. Further, the recent California “legal lab” crackdown seems to have scared away most other scrappier competitors for now.

I think that all three competitors have ample funding… if they have the will to spend it. I argue that 23andMe and Navigenics have that will, while deCODEme may or may not.

The leaders of 23andMe and Navigenics are most personally and publicly invested in the success of their ventures and thus are most likely to succeed. 23andMe wins the accountability metric because if it doesn’t succeed, it will forever be known as “that Google’s wife’s start-up toy with that disgruntled affy chick.” These women probably do not appreciate being known as such, and are powerful and determined enough to prove otherwise. That alone will keep 23andMe around indefinitely. The rest of the 23andMe team is also well featured on the about page. However, the iStockPhoto slideshow on the 23andMe team page needs replacing.

Navigenics team is also very well featured, even better than 23andMe’s team.

At deCODEme, Kári Stefánsson may publicly represent the business, but he’s the CEO of deCODE. Who is personally accountable for the success of deCODEme itself? On both the old and the new versions of the deCODEme website, nobody is named. The new About deCODEme page does feature a photo of the deCODEme team, but the only names are of deCODE researchers publishing papers, not deCODEme management. (they are pretty nice photos, though)

Further, both 23andMe and Navigenics feature recruitment on their websites and actively advertise positions with third parties (a quick Google search confirms this). deCODEme does not.

Finally, deCODEme’s parent company, deCODE, has not been doing well financially and has never reported a profit. It has recently eliminated many positions, is debt-leveraged, has sold-and-leased its American office, it’s stock price is at $1 and cents from about $28 in 2000, and its CEO has warned of ending operations. All of this is bad for morale, and if more cuts must be made, an unprofitable deCODEme is a likely candidate. I doubt deCODEme will ever be eliminated because it’s obviously Kári’s personal initiative, and as far as I can tell, deCODE is Kári. What’s most likely, if things get bad, is that deCODEme will process orders, but languish without growth or direction as 23andMe, Navigenics, and other competitors continue to hire, grow, and improve.

… Continue Reading »

April 08, 2008 — Today, Silicon Valley startup Navigenics officially joins competitors deCODEme and 23andMe by launching its own personal genome scanning service.

Navigenics emphasizes the clinical aspects of genome scanning including genetic counseling and medical implications. While Navigenics uses the same technique as deCODEme and 23andMe, a chip which tests for one million SNPs (Single Nucleotide Polymorphisms, or “single-letter mutations”), Navigenics claims to better interpret the results. Disease risks are calculated by “life time risk” rather than average risk, and 24/7 genetic counseling is provided. Navigenics’ price reflects their interpretation confidence: $2500 for a one year membership and $250 per year thereafter as compared to $1000 one time for deCODEme and 23andMe.

One benefit of Navigenics that its competitors do not offer: Navigenics freezes your DNA sample to be retested as genomics testing advances, perhaps two to three times per year according to Mari Baker, Navigenic’s CEO. deCODEme and 23andme offer more raw information, but do not pledge to retest. Another benefit is an online primer for physicians which a Navigenics user’s health care provider could reference to help interpret test results.

Navigenics has positioned itself as less of a novelty test for genomics enthusiasts and more as an ongoing investment in personal medicine. With lead investors including Kleiner Perkins, MDV, and Sequoia Capital, Navigenics is a strong new competitor in the previously non-existent personal genomics industry.