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 »

Two weeks ago, we alluded how one could run one’s own genetic tests.

Now, Wired has grabbed the gene baton and has launched a home genomics how-to guide: Check Yourself for Genetic Abnormalities.

Wired is the banner publication of everything early adopter, but don’t expect much early adoption yet: the day belongs to the scrappy hobbyist innovators. Hobbyists are noisy, and they are more than the few wealthy patrons of yesterday’s DTC (direct to consumer) genomics market, but hobbyists are also notoriously frugal. I predict a flat revenue time-of-trials for DTC genomic start-ups amid a boom of grassroots interest until a bigger market meets a falling price.

The famous market graph from Crossing the Chasm, a staple read in any technology start up or MBA program. DTC genomics is still in its enthusiasts phase, though Wired articles suggest market movement towards early adopters.

Worse, as the graph above suggests, this is merely the first market barrier for genomics. The real business challenge lies between the pre-interested and everybody else. Who of the big three DTC genomics start-ups will survive years of meager profits to consistent losses in this slowing economy and hostile American regulatory environment?

We’ll publish a more in-depth how-to soon. Our goal is that with our guide, the average enthusiast will be able to conduct at least one hobby genomics test. Perhaps, in our own small way, we’ll help the industry by rushing the bloom of geepy*, techcrunch-y publicity into an early harvest of paying customers.

*geepy: adj. “geek cheap,” or of how the well-to-do geek considers paying for new technology an engineering challenge to be surmounted, even at great inconvenience, time, and effort

Bits per Base

A commenter mentioned that they heard nucleotide bases took 7 bits to store.

7 bits is the encoding for ASCII characters, which are used to store literal “A T C G”s in a text editor. There are 4 bases, so one only need 2 bits (2² = 4 bases). These bases could be numbered like this:

00 = A
01 = G
10 = C
11 = T

This encoding further has the convenient property that the bits can be inverted to get the complementary DNA strand. Storing bases as ASCII is OK for small, human readable files, but otherwise, it’s a gross waste of storage, bandwidth, and processor resources (about a 350% waste). This “data inflation” could be much worse if the files are encoded using unicode or other bigger character sets most used in foreign countries.

Abbreviations

Josh, my science editor, will disagree about this because “biologists don’t use the Internet” and “base 2 is for nerds,” but PLEASE, define all acronyms and unit abbreviations in a glossary! I was reviewing “A Short Guide to the Human Genome” by Cold Spring Harbor Lab Press, and in a table of chromosome sizes, the data is measured as Mb (with no explanation).

What is “Mb?”

DATA: “Mb” is “megabits,” which is 2²⁰ bits. Each base is two bits, so 2¹⁹ = 524288 bases per unit “Mb.”

BIOLOGY: “Mb” is “megabases,” which is 1,000,000 bases per unit “Mb.”

Either interpretation is valid, and this is a serious problem as biology and computer science continue to collaborate. If NASA and Lockheed Martin can bungle units at the cost of a $327MM Mars Climate Orbiter extraterrestrial nose dive, you can certainly bungle a genomic experiment due to confused units, too.

There’s a joke that biologist’s don’t have new math, so they invent vocabulary to keep others out of their field. Please do not led credence to this joke.

I don’t say that “biologists don’t use the internet”, but it’s generally not an issue to know whether you’re using megabytes or megabases; the context tells you. If you’re dealing with DNA, it just doesn’t make sense to measure it in computational units of storage (ie megabytes), because this is effectively meaningless. If a segment of DNA is, say, 5Mb, the sentence doesn’t really make sense if you had a 5 megabyte fragment of DNA.

I suppose some people may get confused, but I think generally it’s a non-issue. In that particular book, if it’s targeted to people familiar with the field, they will know what Mb stands for. However, if it’s an introductory book, some explanation probably should be given.

The quote my from gchat logs is:

Josh: I disagree, but whatever. CS corrupted the metric system with base 2

Josh:

I recently noted in Napster of Medicine that an entire human genome would fit on a music CD.

How much data IS a human genome?

• 2 bits per base (4 bases = 2²)
• 3,080.4 Mb per human genome [1]
• 700 MB per CD-ROM

(1 human genome) *
(3,080,400,000 bases / 1 human genome) *
(2 bits / 1 base) *
(1 byte / 8 bits) *
(1 MB / 1,048,576 bytes) =

734.4 MB per uncompressed human genome. Easily enough to fit on a 700 MB with basic file compression like gzip.

Actually, while writing this post I invented a technique to get the file size down to about 10MB, but I need to file a patent before disclosing. Sorry. (yes, 10MB, as in, the size of an mp3 song)

NOTE: Commenter “neandrothal” noted that this is the size of a haploid human genome. Humans are diploid: they two of each autosome and two sex chromosomes. So this is the size of a reference haploid human genome, not a complete human individual genome, which would be twice as much data. (2 music CDs) Thanks, neandrothal!

[1] Scherer, Stewart. 2007. A Short Guide to the Human Genome. 6.

MB = megabytes
Mb = megabase

Warning: explicit language

Source: Grand Theft Auto 4: Public Liberty Radio
(yes, the video game)

It’s funny, it’s crude, but it’s interesting:

When joining an HMO to get health care is mandatory, when the forces-that-be have every legal advantage, when the fine-print is written intentionally to be incomprehensible, what checks HMO’s incentive to bill premiums yet not pay for care?

When all of health and biochemistry is too complicated for even doctors (hence, specialization), when  advertising has evolved into audiovisual crack, when the first obligation of a drug company’s officers is to its shareholders, what checks drug companies from producing addictive consumerist luxuries in the pursuit of greatest profit?

And when everyone credible has so must vested in the status quo, the only dissent is crazy.

Quotes!

Wilson Taylor Sr. of Copay Health Systems (HMO):

“and little Miss Drug company here sashes into the doctor’s office, flashes her perky bazookas, and the next thing you know, the doctor’s prescribing heavy sedatives for every splinter or rash.”

“That’s the dream hard workin’ people all over this country want: to see their lazy neighbors die because they didn’t go to work and get a job and have health care.”

“As an HMO, we want people to be healthy. Don’t go to the doctor, don’t get sick, pay your premiums on time, and everyone’s happy. Why would we want to sign up sick people?”

“If we were a sports team and we signed up sick people, people would be furious! If you’re sick, why don’t you harass someone can do something about it like God instead of calling and harassing our call center workers!”

“If you hip hurts, you should probably kill yourself.”

“Just because you have insurance, why use it? Why should we pay just because we said we would?”

“Nobody knows what officially is hokum-pokem, that’s a fact. What works is a fully integrated spreadsheet pyramid”

“Could you imagine the chaos if everyone could see a doctor and didn’t have to fill out reams of paperwork before they were denied a life saving procedure because it costs money?”

Sheila Stafford of Betta Pharmaceuticals (drug company):

“It’s yellow! That means it makes you happy.”

Moderator: “Sheila, a lot of people can’t afford your drugs though the conventional channels and their forced to buy them on the black market.”

Shelia: “Well boo hoo! Save your money! Stop buying silly things like lottery tickets, pickup trucks, …or food!”

“So, I did the responsible thing: I walked away.”

“What it does is irrelevant! Ask your doctor.”

“We helped usher in drugs for a society coping with anxiety due to the civil rights movement!”

Waylon Mason, The Down-Home Medicine man and Homeopathic (alternative medicine):

“Son, diabetes is a lie.”

“I wanna make this much offa this person who can’t breathe right or I’m gonna make that much off that doctor who is IGNORING THE WORLD playing golf!”

“You all need a good enema or you might explode!”

“You don’t need a pill for everything and barely for anything!”

“After my mom died, he let me burn the body. You can learn a lot from family.”

(is this a better podcast that Helix Heath’s?)

This decade, genomic health care is for people with thousands of  dollars of disposable income. Let’s not mince words: experimental health care is for the rich. But genomics is an information technology, and information technologies scale. A sequenced genome is a mere CD’s worth of data — data that can be freely transferred over the internet. No doctors or insurance middle-men required. Outrageous? An album of music is also a mere CD’s worth of data. Remember Napster? The music industry does.

But will there be a Napster of medicine? Indie medicine is quackery, not creativity, and sticking it to the man in a medical context seems… unwise.

It’s not only coming, it’s here.

We’re in the hobby kit stage of personal genomics now, and you can do your own crude genomic test if you buy a $1000 SNP array from a company like 23andMe. I’ve done one myself (here’s how). Like the first personal computers, for some time, personal genomics will seem erudite and absurd — until it’s not.

Let’s pretend that I’m building the Napster of medicine.

If I want to compile my own genomic database from public information and run tests on genome sequences submitted over the Internet, who’s going to stop me? Nobody. Data is data, and having an MD or PhD doesn’t magically make a computer run better [1]. SNPedia is a start, but I can scrape patents, public research, and services like 23andMe, too.

And if I wanted to run my own genetic tests, what would I need?

• Oragenes or Swabs
• Primers (oligonucleotides) which I can design at Primer3 and verify with BLAST
• a PCR machine
• various common reagents and general lab equipment

Will patent lawyers or legislative orders deter some self-righteous geek running, say, illegal at-cost BRCA tests? Here’s how successful the music industry has been prosecuting music sharing sites. And here’s a question, one that I’d like to pose to a patient advocate like Jessica Queller. If I could save a life from breast cancer with an illegal but perfectly valid free genetic test that was otherwise unobtainable, am I morally obligated to run that test?

It’s still too expensive for amateurs to sequence entire genomes or run SNP chip tests, but like mainframe computers, that technology is rapidly approaching, and single gene tests are already achievable. Genetic testing isn’t magic, and it will be everywhere.

I’m not advocating some trainspotter anarchist genomic revolution, I’m being realistic. The best way to get this technology to doctors to help patients is to help nurture responsible startups like 23andMe and Helix Health, not crush them under legislation and certification. The law only hurts those with something to lose, and draconian enforcement will spawn a digital black market, setting back the genomic industry ten years, if not forever. The entertainment industry is STILL paying for its Napster mistake, because despite services like iTunes, people have tasted the forbidden fruit of free, infinite media. Today, users are deeply reluctant to pay for any media on the Internet. They’ll be deeply reluctant to trust or pay for genomic medicine, too, if you nuke the market and leave the cockroaches to rule.

Medical Industry: don’t piss off computer nerds. You don’t want to fight vaporous, smart people whose religion, hobby, and self-appointed career is to destroy you… especially if they can get venture capital to do it.

[1] Unless you’re Navigenics. Their doctors make computers run 250% better.

Complete Podcast and Panelist Bios at Helix Health

What what is the future of genomic and personalized medicine? In this panel organized by Helix Health, five experts discuss what new developments in pmed advances in breast and ovarian cancer management, what they means for patients, doctors, and the health industry, and how these treads apply to all health care.

“This [genomics] revolution is akin to the discovery that bacteria cause disease.” begins Dr. Steven Murphy, an expert in genomic medicine. Yet, “how did medicine advance so technologically, yet fail to keep us informed? … I’m amazed how difficult it is to translate this wealth of technology into truly effective patient care.”

And “we are in the beginning of an enormous tsunami of new [genomic] information that’s just beginning to hit,” says author David Duncan, who has subjected himself to “The Experimental Man” project to take every test to learn what can be learned about one’s body. These tests are expensive today, the BRCA breast cancer gene test costs upwards of $2500, but like microchips “technology is making these tests cheaper and easier —even including full genome sequencing.”

But who in the medical community needs to learn this information? “Everyone, so everyone is liable.” says Gary Marchant, J.D. By the “loss of chance doctrine,” simply by not discussing all the new genomic information to patients, “today, it’s any doctor who is potentially liable, from the general physician to the family physician to any kind of specialist.”

Yet, “such a small amount of physicians who are genetically knowledgeable,” says Steve, “there are less than 100 trained adult genetics specialists.” And while genomic education is truly empowerment to practice better health, medical students experience what Steve dubs “genomic knowledge erosion:” students know less about genomics after medical school than before and even less after residency. Gary adds, “Most doctors practicing today probably didn’t have genetics in medical school. If you’re an older doctor practicing in some rural community, this issue is all foreign to you.”

“Those doctors should then retire,” rebukes patient advocate Jessica Quller. “Perhaps fear of litigation will force doctors on a national level to become educated in their field and force them to present these options to patients.” Jessica’s mother died of preventable ovarian cancer, prompting Jessica to take the BRCA breast cancer gene test. Testing positive, she underwent a prophylactic mastectomy and oophorectomy. “The year is now 2004: no doctor had ever mentioned that I should be tested, and my sister and I essentially lived in NYU hospital with my mom for two years during her illness… Only my high school friend mentioned the [BRCA test] to me.”

“For 2004, I certainly would have hoped that in New York City, somebody would have talked to you about genetic testing in light of your mom’s illness.” exclaims Dr. Barbara Ward, a surgical oncologist. While “about 7% to 8% of [breast cancer] is inherited… we do believe that [the BRCA 1 & 2] genes reflect most of the inherited breast cancers… as high as 87% of women carrying the BRCA 1&2 gene will develop breast cancer. I look forward to the day that we’ll look back and we’ll say ‘can you actually believe we did prophylactic mastectomy for gene carriers?’ But at this point in time it’s the best we can offer.” But will insurance companies pay for tests like this including breast MRIs? “We definitely struggle… it’s VERY frustrating. Sitting in my desk right now I have a chart of a lady who’s HAD breast cancer, has had a mastectomy, and her insurance company is refusing to screen her with a breast MRI… So, it is frustrating to realize that there’s a test that’s available and realize that you may not be able to get it.”

Thank you to the panelists and Helix Health for conducting this excellent session about genomic medicine and breast cancer management.

David Duncan has started a new website, The Experimental Man, to report just how much one can learn about oneself with modern pmed testing… by taking all the tests himself.

From his introduction blog post:

The plan is for one person - me - to take the ultimate high-tech exam: tests that reveal everything from my genetic markers for, say, diabetes and novelty seeking behavior to levels of pollutants in my blood to brain scans that attempt to tell me how greedy or altruistic I am, or if I am in love or believe in God.

I’ll use all of this poking, prodding, and scanning as a means to describe the latest science and technology, while assessing what is useful for a healthy individual, and what is not - and how I feel finding out so much information about my inner workings. Is there anything I don’t want to know?

Perhaps most important, the project will explore what it means to be human - and why we are obsessed with experimenting on ourselves.

A book is due in early 2009. We’re looking forward to it!