UPDATE: Steve has responded forcefully to this at Gene Sherpas.

Dr. Steven Murphy, “The Gene Sherpa” has nagging me to write this…

Steve is upset that DTC genomic startups, specifically, 23andMe, aren’t following “protocol.” He listed a bunch of institutional policies and standard procedures that I don’t care to remember in mind-dump blog post he’s since removed, and used these “violations” as justification to decry 23andMe and friends as reckless and unethical.

So I’m in New York City with Steve, and I say: “listen, Steve, the first thing anyone in Silicon Valley will think when you prescribe a stack verbose regulations will be ‘how can I ignore this?’ These people, who are the same people of scientific marvels like Google, have a dim opinion of all bureaucratic authority —including medical authority— and for good reason. Nobody there cares what some document says, they only care why those legacy policies exist and what problems they’re supposed to solve. Why? Because they think that they can solve those problems better. And you know what? They probably can.

“So, if you want to help —if you truly want to do good— rather than rant and be willfully ignored by your targets, then you have to simply state the problems, why they’re problems, and suggest a simple, non-authoritative, actionable way to solve them.”

(Also, Steve doesn’t want to provide free consulting to Coriell’s free genomic test’s competitors because he probably has a special surprise for the people of New York, but deals can fall through, so I’ll wait until the contract is signed before talking.)

So, here they are:

1) Transparency by Independent Expert Oversight

Problem: If a company acts unethically, how will public know about it, and how will the public know when it’s fixed?

Somebody must be both empowered and responsible for the ethical operation of a company obviously and independently.  That way, when we hear no reports of problems, it’s because we know the company is operating ethically, not because there’s no way to report problems.

Question: Who in DTC genomics is responsible and empowered to report problems?

Why This Problem Matters: Genomic testing companies are a new blend of software, health care, and private medical records. Very few ethical issues matter in information technology itself, but health and medicine are especially fraught with ethical concerns. It’s necessarily yet not sufficient to “don’t be evil.” The greater the ethical risk, the greater confidence the public must have in the company, and the greater the transparency must be.

Solution: Appoint a small board of diverse experts appointed to passively oversee the the company’s operations and report problems to the public in a standard and obvious way.

Is this a necessary expense? No: it’s unlikely to appeal to the press and general public and generate immediate sales. But it does improve the long-term company image as seen by the informed and the medical research establishment. I notice that 23andMe is hiring a durrbizdev. New bizdev director, this board and the act of forming it would be the single most effective “business development” initiative for these people. Throw in some keep-it-real black projects preacher, some Berkley femnazi community leader, and a some whiny tech author in glasses with too many degrees and you’ll have yerself a durn fine SWPL media event, ripe for plucking clean off the press release vine and right inta them hungrylike New York Times media basket. Plop. Feed ‘em fer a week, ya know?

A similar board may already exist, but that it’s private, poorly publicized, or not well defined. Define it, publicize it, spice it up as noted above, problem solve.

Existing Policy: The existing policy is to form an Institutional Review Board (IRB). Steve could certainly speak better about this, but the end result should be implementation of my simple statement solution.

Is it a necessary expense to use existing policies to form an official IRB? My suspicion is that existing policies are painfully slow, abstruse, and expensive, but existing institutions will to trust you more if you use them. They’d be suspicious if you created your own policy, even if your policy is better, because usually when people make their own policy, it’s in their own best interest, and because people trust what they know irrationally. So, can you convince people that matter that your solution is as good or better as an official IRB and deserves as much or more trust? Is the difference between your solution and an IRB less than the extra convincing?

My general suggestion is to first solve the problem rationally, and then have smart people justify your solution with the IRB official procedures. That’s because trying to follow any government document to solve anything without already knowing what you’re trying to do is a good way to make something asinine.

2) Opting Out

Problem: How can people leave the system?

If people cannot terminate their inclusion in an ongoing medical study, then what incentives keep that study to perpetually act in the best interest of its members, and what recourse do members have if disapprove of the company?

Note this except from the 23andMe Terms of Service:

Your saliva, once submitted to and analyzed by us, becomes our property. Any genetic information derived from your saliva remains your information. We retain the rights set forth in the consent form and any additional terms of service.

and from the Consent Agreement:

You have the right to delete your genetic information from our systems. Within thirty (30) days of receiving your written request, we will delete your account, and your information will not be included in any future research, including future research by other organizations. Any research conducted prior to the end of the thirty (30) day period following receipt of your request will not be altered or halted. Once your account is deleted it will not be retrievable.

Once information is shared with research partners, we cannot guarantee that it will be destroyed upon request.

Who cares about the saliva sample? It’s a legal convenience and standard procedure that physical objects you mail to a company become property of that company. What’s important is the genomic information is deleted to the best of their power on request, and that is contractually promised.

But clearly, there is confusion that’s making a problem, because:

1. If Steve was upset, and he’s a medical doctor of genetics and a smart, informed, active participant in the medical genomics community, then it’s not obvious enough that people can leave the system.
2. Keeping the saliva sample violates some medical research convention, and that offends the ethical standards of others in the medical research community.

Question: If a participant no longer wants to participate in a DTC genomic service, for personal reasons or as protest, what recourse do they have?

Existing Policy: Destroy the biological sample (the saliva) and the data on request. There’s probably some byzantine government policy to do this that Steve would know about, but I don’t care to look up.

Solution: Add account deletion to the main FAQ and promise to destroy the saliva sample on account termination.

First, know who this solution is meant to appease: the existing medical research and genomic medicine establishment. If it helps, think of them as old grouchy prigs sitting in ivory towers, and when something procedural is awry— regardless of its superficiality —their buttholes get very tight and they are unable to say nice things about your service. You don’t want to do that to the elderly, do you?

The addition to the FAQ is easy. Even better, add links to anchors to the relevant excepts in the consent form and terms of service in the FAQ text. As a bonus, this should help comfort customers, too.

I’m not suggesting anything else besides a promise to destroy the sample. It can still be your property, and you don’t have to implement any official policy. You can do that later. But in the meantime, this is an easy win that helps your image in the medical research community.

Redux

Predictably, 23andMe is crushing its competitors in everything information: software, marketing, web product, because that’s its founding background. Likewise, Coriell is crushing its competitors in everything medical research: policy, ethics, funding, because that’s its founding background. Specifically, everybody knows about 23andMe and their website and PR is excellent, but Coriell provides free, medical testing. Yes, it’s not “for education and research” like 23andMe. It’s a certified medical test. But, hardly anyone knows about Coriell, and their web service and marketing ranges from “non-existent” to “sucks.”

Imagine if West Coast 23andMe and East Coast Coriell joined forces…

But Drew, what about deCODEme?

Oh, they are for American’s, too. Check this out:

Can you get any more maverick American business cowboy than that? No.

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..