Tag Archives: genetic diagnosis

DNA as Commodity

Here’s a riddle: In the morning I was in the soup. At noon I was in a dish. In the afternoon I was in your gas tank. And at night I am in the bank. What am I?

The answer is DNA. From a natural object emerging, some say, from a primordial soup, to a laboratory object, to a cultural object, it has become data, a special string of computer code endowed with the power to foretell disease, identify criminals, and be leveraged, like software, as a product.

from venturebeat.com

Robert Resta, a genetic counselor and always a reliable source of depressing, ironic, frightening, and amusing stories about heredity and DNA, forwards this piece, by @alexlash, from Xconomy.com on how your DNA is becoming commodified. What’s happening is interesting not for how new it is, but for the way in which the exotic is becoming commonplace. Featuring the San Francisco biotech company Invitae, the piece shows how this small but highly capitalized company is taking on giants such as Illumina, 23andMe, and Myriad in a bid to monetize your sequence—and give you a small cut.

The troubling thing is how commonplace this is all becoming. Nothing Invitae is doing is really new. They want to persuade you to donate your genome to their database, where it can be analyzed to inform you about your health, contribute to research, and be sold to other companies who might use it for anything from curing cancer to targeted advertising. Invitae CEO Randy Scott he is not bringing in new tests–only offering existing ones all in one place, an approach he calls “generic genetics.” (“Generic genomics” would be more accurate–this is about as far from Gregor Mendel as you can get with a double helix.) And he wants to include users in the process, so that if their sequence is bundled into some DNA-based product, you get a tiny royalty. Sort of like allowing ads on your blog.

For some time, historians and sociologists of science have been writing about “biological citizenship,” the idea that we’re coming to base our identity on our biological status rather than our labor. Many people today identify more as a cancer survivor, as living with depression, or as gluten-intolerant than as a carpenter, secretary, or professor.

DNA has been a big part of that shift to biological citizenship. It’s not the only thing, of course, but it’s a big one. DNA, a hypothetical Marxist historian (there are still a few!) might say, came to have “use value.” We hear every day suggestions that our genes make us who we are. Leaving aside for the moment whether they actually do—a challenge for me, as regular readers know—we believe our DNA to be the secret of life. And so, in a sense, it is.

What’s happening now is that use value is being converted into exchange value. DNA is becoming a currency. An investment account we’re all born with. What are you going to do with yours? Hide it under a mattress? Or make it work for you?

One could imagine a day when there’s a new kind of hereditary aristocracy. A group of nouveau riche whose wealth nevertheless was inherited. Those who, through no effort of their own, received a legacy of valuable SNPs (single-nucleotide polymorphisms). But it will take a go-getter to capitalize on that legacy. You’ll have to have ambition, street smarts, and at least a bit of lab smarts.

Marx also said that history was determined by the material reality of the individual. One might now say the molecular reality of the individual. But total self-awareness at the molecular level won’t lead to the end of exploitation of man by man. Indeed, it is only the beginning.

Exclusive: Interview with Dick Dorkins

GENOTOPIA: Welcome to Sideline, where we towel off the washed up and try to make them look presentable. Dr. Dick Dorkins is President and CEO of the Society for the Prevention of Intelligent design, Theology, Transcendentalism Or Other Nonsense (SPITTOON). His new meme-oir, haha, is called Me, Me: Portrait of a Selfish Geneticist. It’s a 900-page tell-all about Dorkins’s contributions to science, culture, and life. It also features lots of nice things people have said about him and many other nice things he has said, and continues to say, about himself. We just couldn’t resist inviting him to come and tell us about it. Dr. Dick, welcome to the program.

DICK DORKINS: It’s nice to have me here, isn’t it?

GT: Why, yes, of course. It seems like only yesterday that you made some geniune—

DD: I mean, you were right just then: you are fortunate. I just think it’s so important for us to recognize life’s gifts, the random generosities of the cosmos, as it were.

My book is another one. I truly believe—scratch that: I know it is the best thing I’ve ever written—which of course is saying something. Some of my closest friends agree with me. My dear friend Harold Hairnet, for example, said…pardon me, let me get my glasses… [intones]:

Bravissima! Encore, encore! Dick Dorkins’s Me, Me is the finest example of memoir since anatomically modern man last mated with a Neanderthal. Its sparkling prose and flashing wit are a perfect mirror of the towering intellect that produced it.

That’s a nice bit just there, isn’t it? There’s more:

Being a book, it is highly readable, and in addition to having pages it has even more pages, which is a most excellent and fortuitous happenstance, for they are, every man Jack of them, examples of their kind.

GT: Impressive.

DD: Well I was impressed. He adores me, and I love that quality in people. And that’s just one tiny fraction of the good things—glowing, radiant, heart-warming things—my very best friends say about me, my book, and my theories. In fact, I wrote a computer simulation to model how much my book would sell if wise, thoughtful opinions such as this spread throughout the population. It could be done with a kind of hypnosis I’ve developed in which my minions—sorry, readers—echo my ideas, thereby persuading everyone around them. I call it “lognosis,” from logos and gnosis.

Here’s how it works. Imagine that praise is a real, physical thing, like general intelligence (with which, obviously, it is correlated). Now, when I read that passage to you, you listened raptly, absorbing every word.

GT: Every word.

DD: Just so. It’s as if I transferred a gene for loving my book into your brain. It’s just like mating in bacteria: when two cells conjugate, one transfers some of its genes into the other. When it happens with ideas, I call it “thought-sex.”

GT: Thought-sex?

DD: Yes, but without the question mark—that’s a deleterious mutation you’ve made there. It does not faithfully transfer admiration of me into your nucleus Dorkins.

GT: Nucleus Dorkins?

DD: Again with the question mark! You must absorb my words exactly as your hear them, otherwise I am simply wasting my time.

GT: I am simply wasting my time.

DD: Good! Much better. By the way, if you’ll allow me a little digression (and you will), the nucleus Dorkins, a small but exceedingly important region of the brain, was described by my brilliant and—I damn it, it’s my interview, so I’ll say it—drop-dead gorgeous friend, the stunningly attractive and successful neuroscientist Andromeda Telekinesis. Anyone who says that women don’t belong in science doesn’t know Andromeda. She really pops off my pipette tip, as we used to say in the damp, dear labs at Oxbridge. Anyway, while having dinner with me one night, she discovered a nucleus in the brain that recognizes talent, wit, good looks, and achievement. And she decided then and there to name it after me. I protested, of course, but she would hear none of it. I was deeply humbled, and I say so every chance I get.

At any rate, I described my simulation in my book Unweaving the Basket. The original simply cannot be improved upon, so I shall quote. Eh-im!

I found that if I produced a memoir of staggering significance and touching sentimentality, and then had thought-sex with twenty beautiful, intelligent, influential women a day, conservatively assuming an intellectual fertility rate of fifty percent and a generation time of 24 hours, I should be able to buy that sweet little eight-person jet I’ve been eyeing in just nine months!

And do you know what? I flew here today in that very jet! That, my little friend, is the power of science.

GT: [sotto voce, sarcastically] Power of science. Pooh! [Aloud] About that…we received a call from the highway patrol and they are rather upset about the traffic jam your plane has caused on I-95. The interstates really aren’t meant to be used as runways.

DD: This is America, right? Let’s just call it a little experiment in the efficacy of prayer.

GT: With the establishment of SPITTOON, you have become one of the world’s most notorious atheists. Now, you are English by birth…

DD: —By right, damn it!

GT: Damn it! [regains composure] So my question is, why did you relocate to the United States when you founded SPITTOON?

DD: Death to America! Haha, that’s one of my wittle litticisms. But in all seriousness, I did so in order to infiltrate one of the most powerful fundamentalist states in the world. Through my ceaseless efforts of self-promotion, I have accumulated lit’rally thousands of followers who hang on my every word. My every word!

GT: Your every word?

DD: [eyes us suspiciously] Yyess. [brightens] So. I liken what I do to a kind of genetic engineering of the mind. By having thought-sex with my followers, I am indoctrinating them into the doctrine of de-indoctrination, if you will. Then they go out and explode others’ mistaken beliefs. I call them “suicide bombers of the soul.”

GT: [incredulously] Suicide bombers of the soul?

DD: [narrows eyes] Are you…?

GT: No.

DD: Good. Because if you are…

Off mike: Boss? Ever’tin’ OK? [sound of knuckles cracking]

DD: For the moment, Vinny, yes, thank you.

GT: I assure you, I would never. It’s just…isn’t that a little…inflammatory?

DD: You can’t start a forest fire without burning a few trees, what!

GT: How is that working out for you?

DD: Funnily enough, a recent independent survey by one of my graduate students found that religious fervor and hate crimes have tended to increase in towns with SPITTOON chapters compared to the general population.

GT: That ought to make you think, I imagine.

DD: Absolutely right, old sod! It makes me think, “What a wonderful confirmation of our wisdom in targeting the most populations with the most entrenched religious problems.” We are right where they need us!

GT: What about in East Carolina, where the young man blew himself up, killing two young Muslims, and citing your influence in his suicide note?

DD: Mm, unfortunate, that. Wasn’t meant to be taken quite so lit’rally. But my followers are passionate people! They believe in disbelief!

GT: Unbelievable. I’d like to go back a bit now, to a different crusade: the so-called sociobiology wars of the 1980s. What exactly was your beef with scientists such as Popinjay Gould?

DD: As I wrote in what I consider my least-appreciated book, The Gould Delusion, they made one of the classic errors of science: they let their ideology color their work. They believed things and then did science, instead of doing science and then knowing things, as I do.

GT: So you bring no beliefs, no values, no opinions whatsoever to your science?

DD: Positively not! I have no beliefs—only certainties.

GT: Have you ever changed your mind on anything?

DD: Nope. Wait a minute—yes. I do remember once back when I was an undergraduate. My philosophy professor was introducing us to Einstein’s concept of gedankenexperimenten—that’s “thought experiments,” for the philistines in the audience—and mine was to try to change my mind. I halfway succeeded for a moment, but then my mind snapped back again, like the steel trap that it metaphorically is. I was just too strong for myself, haha!

GT: [sound of hand slamming table] Right. That’s enough. This conversation is repetitive, pointless, and vacuous. You’re just smugly self-indulgent and vain, and you keep bashing away at the one or two really original things you’ve ever said, thirty years ago.

[Enter VINNY SMALLCHANGE, a 350-lb. bouncer, in black suit, dark glasses, and with suspicious bulge in his pants.]

VS: Just too strong for myself. Hey-uh, Dr. Dick. Dis guy botherin’ ya? I can take his microphone from his mout’ and insert it in another orifice, if y’ get my drift.

DD: What a brilliant analysis, Vinny! Bravo! But I’m afraid I cannot stand by and watch violence carried out, especially on my behalf. So I’ll just turn around and inspect this utterly fascinating fly on the wall there…

GT: Ha. Ha. Well! Look at the time. I’m afraid we’re going to have to wrap up. Dr. Dick, I’d like to thank you for being on Sideline. G’bye!

DD: It’s been a pleasure having me.

VS: […]

The preceding is for entertainment purposes only. Any resemblance to vertebrates living or fossilized is completely coincidental.

A little cold water

[Edit: I’ve had many positive comments on this post but one negative one keeps coming up, so I want to address it. A few people have felt it makes those who give to ALS feel stupid or duped. Not my intention at all. I’ve had it with ice buckets, not ice-bucket donors. My criticism is of a system, not individual people. I’ve added a line to the disclaimers to address the ALS donors, who obviously are acting with good intentions.]

I’ve had it with ice buckets.

Serving suggestion.

Amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease) is the disease of the moment. Not because it’s the most important medical problem today, but because it’s got a clever bit of marketing that got lucky and went viral. Kudos to the ALS Association’s ad campaign person. The ice-bucket gimmick has nothing to do with ALS—you could ice-bucket rectal cancer just as logically. Maybe more so, in fact, given most people’s physiological response to a couple gallons of ice-water. But hey, for whatever reasons, it has worked brilliantly. But I’m not dumping water on my head and I’m not writing the ALS Association a check. Giving money to biomedical research is like loaning Bill Gates busfare.

There’s a long list of people who could be pissed off at that position, so before I make my case, a few disclaimers:

First, I have great empathy for patients with ALS and their families and loved ones. It’s an awful disease and I hope a cure or at least an effective treatment is found. Soon. I am all for curing ALS. Also, the ALS Association is a fine charity. According to Charity Navigator, they have a high degree of transparency and use only a small percentage of their money for administrative costs. Also, I don’t mean to make those who have already given to ALS feel bad or misled. There’s always a benefit with an act guided by conscience. I’m just going to make the case that the charitable bang/buck is small.

A young Lou Gehrig.

Finally, I feel for scientists. I recognize that funding for the National Institutes of Health—the major federal agency for biomedical research—has been cut this year. But still, I don’t see biomedicine hurting seriously for money. I think that of all the industries that are working with tighter budget constraints, relatively speaking, science is not feeling the most pain, and offsetting its budget cutbacks is not going to have much effect on how soon a great new drug for ALS is found. I love science because it’s cool. But as charity goes, I think it is a pretty low return on investment. Here’s why.


I study biomedicine as a social enterprise. I look at it in the context of its history and in the context of contemporary society and culture. The majority of breakthroughs in basic science and almost all translations of basic science into new drugs and other therapies occur in the top university medical schools. I happen to work at one of them; the other biggies include U.C. San Francisco, Harvard Medical School and associated Boston-area hospitals, Baylor, Memorial Sloan-Kettering, Michigan, and a few others.

Science is kind of like a country club, in that it’s hard to get in and those who do have money. In order to enter an elite science building, you probably have to get past a security guard. Inside, there is wood paneling, lots of glass, gleaming chrome, polished floors. It’s like Google, only with worse food. If your building does not look like this—if it’s more than 20 years old—there is probably a fundraising campaign to replace it with something swankier.

It looks corporate because it is corporate. A lab is basically a business. Principal Investigators (PI’s, i.e. faculty lab heads) are entrepreneurs. Their principal role is development; i.e., raising money. The company staff consists of graduate students, postdocs, and technicians, and however many administrators you can afford. It’s a for-profit business, in that all or part of the PI’s salary comes from grants. Often, PI’s also literally run companies on the side; a PI without a little start-up is ever so slightly suspect, as though she’s perhaps not quite ambitious enough for the big leagues. A cut in federal funding means that competition for grants will be stiffer. But the elite schools, where most (not all, I recognize) of the most fundable grant applications come from, have “bridge funding” to help such investigators. The system can absorb some cuts.

The scientific community as a whole is rich, white, smart, and obviously highly educated. Getting one of these PI jobs takes brains, dedication, and in most cases, a good family background. Many scientists have parents who were scientists, and most come from middle- to upper-middle class backgrounds. It helps a great deal to be white. Every basic science department in my school cites diversity as one of its weaknesses. For a variety of reasons, it’s really hard to get to grad school if you’re black. I believe this to be mostly a failure of our education systems before grad school: basically, as a society we have decided to stop educating poor kids. My school makes a good effort to accept and nurture minority students. It just doesn’t get very many.

Those who do get into grad school have their schooling paid, get health insurance and a stipend of $30,000 a year or more. Postdocs make significantly more and starting salary for a beginning faculty member is north of $100,000, plus a start-up package of half a mil or more to get your lab going. Science is full of rich prizes, for best student paper, best article in a journal, best investigator under 40, best woman scientist, lifetime achievement, and so on: these can range from a few thousand to a million dollars. The prize money comes from professional societies, which run mainly on dues from scientists, and from private companies interested in developing science. In short, scientists have money to throw around.

Giving money “to ALS” feels good, but what does it actually buy you? Say a scientist has a gene or a protein and she thinks it’s the coolest thing since canned beer. But to work on it, she needs money. So she scans the grant opportunities and finds a disease she can plausibly link to. Let’s say it’s ALS. She dolls up her little geeky research project in a little black dress and stilettoes, with an up-do and some lipstick, hits “Submit” on the NIH website and sits back and waits for half a year for her funding score. The budget cuts mean that the funding cut-off moves down a few points, say from 25 to 20. Her application has to be in the top quintile to win. The ice bucket money, though, means she can apply to the ALS Association and have another chance. It effectively raises the cut-off again, back to 25 or even 30. That’s the impact of all this feel-good pop charity—a few percentage points on the funding cut-off.

The standard argument is that research needs to move forward as fast as possible: more grants=faster cure. That’s not obviously true. I’m not aware of any studies that examine that hypothesis; it’s simply taken as self-evident. If it is in fact true, the effect will probably be small. It is unlikely to bring new people into science. Most of the extra funding raised by the ice bucket challenge will go to people already working on ALS-related research. And again, as tragic as ALS is for those who live with it, it’s not the most dire medical issue facing us today.


For all these reasons, I’m interpreting the ice-bucket gimmick as a general challenge to give to a worthy charity. It’s so easy to forget to give back to the community. We’re all struggling financially in our own way, so we forget how rich we are in the bigger picture. All these ice buckets reminded me of this. I’m hardly rolling in dough, but I can find a hundred bucks. So while Sarah Palin and Patrick Stewart and everyone else is apparently writing checks to ALS, I gave $100 to the East Baltimore Community Development program of the Living Classrooms Foundation.

Baltimore, a city of 620,000, has a poverty rate of 25%. That’s about 150,000 people. Take the bottom quarter of them and you have more people in truly grinding poverty in one city than have ALS in the entire country.

And best of all, there is already a cure for poverty: money. Money well spent, of course—on education, nutrition, counseling, childcare, transportation, career guidance and training. My C-note could buy lunch for 20 kids. It could buy chalk for a hundred classrooms. It could enable a single mom to take the bus to work for a month. If transparent, responsible, effective non-profits like Living Classrooms had $40 million, they could lift an entire neighborhood out of poverty. That would mean less gun violence, fewer murders, less drug use, more economic development for my city. Maybe one of those kids will go to college, get interested in science, and apply to grad school.

So here’s my “ice-bucket” challenge: skip the bucket, let biomedical research take care of itself, and donate to an underfunded charity that will do some direct and long-term good.

DNA Day Hype

Happy DNA Day everyone. On this date in 1953, Nature published four articles on the structure of DNA, including the 800-word, data-free masterpiece by Watson and Crick—but also the work of Rosalind Franklin, Raymond Gosling, and Maurice Wilkins that did actually have data, and without which the first Watson and Crick paper would have been handwaving fluff. The Watson-Crick paper is a rightful classic of the scientific literature, but it’s too easy to forget those who provided the evidence to back them up.

MRC Biophysics Unit from PaulingBlog.

The MRC Biophysics Unit in 1951, from Paulingblog. Wilkins is scrunched up at the far left. Gosling is on his feet straining his lower back at the right.

To celebrate, the genetic testing company 23andMe posted a DNA Day infographic that is a marvelous inadvertent evidence of genetic oversell. That’s the best kind, because it unself-consciously undermines its own claims.

Rosalind Franklin

An unusual image of Franklin at the microscope, and the familiar portrait, from fantagabriele.blogspot.com.

These claims are about health. Last year, the company was ordered to stop marketing their genomic testing service as a health service and it agreed to stop selling it altogether. It would henceforth focus on the genealogy side of their service. They are evidently sneaking back in, though, with ads—sorry, “infographics”; so much more documentary-like than “advertisements”— like this one.

Ninety-one percent of Americans, it trumpets in giant type at the top of the ad, “correctly believe that knowing their genetic information can be helpful in managing their health.” On one level, Well, duh. Everyone knows that some diseases run in families: you don’t have to have a high level of genetic literacy to be aware that knowing whether your mother, grandmother, great-grandmother, and aunts have had breast cancer is a pretty useful little medical tidbit. The statement is worded so vaguely as to be meaningless. The remaining nine percent probably have some strongly hereditary learning disability that keeps them from correctly knowing how to feed themselves.

On a second level, though, I’d like to know what percentage of Americans incorrectly believe that knowing their genetic information can be helpful in managing their health. What percentage, for example, think that having one of the BRCA risk-factor alleles means they are going to get breast cancer unless they have a mastectomy? What percentage believe that a 300% increase in risk for an extremely rare disease—from one in 3 million, say, to one in a million—is cause for alarm? What percentage think that the association of a single nucleotide polymorphism with a genetic disease means that biomedicine has the cause—let alone a cure—for that disease? What percentage of Americans, in short, have no understanding of probability, pleiotropy, penetrance, or gene–environment interaction, and yet read ads from companies such as 23andMe and think, “Yee-haw! I can learn what diseases I’m going to get, and which ones not, just by spitting in a cup!”

Watson and Crick

The dynamic duo. From The Sandwalk.

The infomercial continues downward, with more statistics: smaller numbers in smaller type. Thirty-one percent know that genetic testing can “show their body’s ability” to metabolize caffeine, etc. At the bottom, though, the numbers get large again. “People still need a refresher on the basics of genetics,” they say. Forty-nine percent of women “believe their sex chromosome is XY.” Their sex chromosome is XY? What percentage of genetic testing companies employ staffers who can write simply and accurately about genetics? Another statistic: forty-one percent don’t realize DNA is organized into chromosomes.

Finally, in tiny print at the very bottom, they tell us that the survey was conducted on 1000 “nationally representative Americans” by an “independent research firm, Kelton.” Kelton Global is a marketing firm that specializes in repositioning companies that have lost market share or want to break into new markets. Their motto is “helping brands navigate change.” They take surveys, track metrics, re-brand companies, and so forth. Their niche is using numbers to persuade and making statistics say what their clients want them to say.

Let’s make a few postulates for the sake of argument. Let’s say that this is a real sample, designed seriously by people who understand statistics. Let’s say the questions were worded better than this and that those questioned understood what they were being asked. Let’s assume the ad was just badly written. It may be that these are totally unjustified, but we’ll give them the benefit of the doubt for just a moment.

If their numbers are in fact meaningful, what they show is that people are buying the hype about genetic testing without understanding it. How happy should we be that people who don’t know what a chromosome is nevertheless believe that genetic testing can tell them about their health? We’re not talking about informed decision making about subtle and complex data; we’re talking drinking the Kool-Aid. What this ad says, most of all, is that even though officially 23andMe is out of the health-claim game, they are still very interested.

Suicide genes? Just kill me now

I’m in the middle of writing a grant, so I’ll have to leave it as an exercise for the reader to think about the implications of genetic profiling of potential suicides, as hinted at in this story over at Forbes. Six genes predict suicides among those with bipolar disorder. As attentive followers will guess, my criticism is not that such correlations are impossible—it’s that they are inevitable.

Manet’s The Suicide

Hmm, possibly there’s a future piece on why a conservative money mag seems to be emerging as a bastion of the new genetic determinism…

Your new genetic test results are here!

McSweeney’s is getting into the genetic satire act. Plenty of room, folks, plenty of room. Funny piece: http://www.mcsweeneys.net/articles/congratulations-your-ineffectual-genetic-test-results-have-arrived



23andMe, FDA, and the history of hype

Yesterday I and seemingly everyone else interested in genomes posted about the FDA letter ordering the genome diagnostics company 23andMe to stop marketing their saliva test. FDA treats the test as a “medical device, because “it is intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body.” The company first issued a bland, terse statement acknowledging the letter and then company president Anne Wojcicki signed a short post affirming the company’s commitment to providing reliable data, promising cooperation with FDA, and reasserting her faith that “genetic information can lead to better decisions and healthier lives.” (I say she “signed” it because of course we have no way of knowing whether she composed it and she’s no fool: surely the text was vetted by Legal.) In other words, the company followed up with a bland, less-terse response, carefully worded to reassure customers of the company’s ethical stance and core mission. Reactions to the FDA letter range from critics of the company singing “Hallelujah!” to defenders and happy customers are attacking FDA for denying the public the right to their own data. The 23andMe blog is abuzz and, hearteningly, a few sane souls there are trying to dispel misinformation.

I am doing history on the fly here. If journalism is the first draft of history, let’s take a moment to revise that first draft—to use the historian’s tools to clear up misconceptions and set the debate in context as best we can. The history of the present carries its own risks. My and other historians’ views on this will undoubtedly evolve, but I think it’s worth injecting historical perspective into debates such as these as soon as possible.


We must be clear that the FDA letter does not prohibit 23andMe from selling their test. It demands they stop marketing it. The difference may not amount to much in practice—how much can you sell if you don’t market your product?—but the distinction does help clarify what is actually at stake here. FDA is not attempting to instigate a referendum on the public’s access to their own DNA information. They are challenging the promises 23andMe seems to make. This is, in short, not a dispute about access, but about hype.

The company seems to promise self-knowledge. The ad copy for 23andMe promises to tell you what your genome “says about you.” “The more you know about your DNA,” they trumpet, “the more you know about yourself.” On one level, that’s perfectly, trivially true: your genome does have a lot to do with your metabolism, body structure, how you respond to disease agents, and so forth. The problem is, we as yet know very little about how it all works. The 23andMe marketing exploits a crucial slippage in the concept of “knowledge,” which FDA correctly finds misleading. In short, the marketing implies a colloquial notion of knowledge as a fixed and true fact, while the science behind the test is anything but.

Historians and other scholars of science have thought a lot about the concept of scientific knowledge. In 1934, Ludwik Fleck wrote about the “genesis and development of a scientific fact,” namely the Wasserman test for syphilis. It is a pioneering classic in a now-huge (and still growing) literature on how scientific facts are created. Science claims to gather facts about nature and integrate them into explanations of natural mechanisms. A moment’s reflection reveals that very few scientific facts last forever. Most, perhaps all, undergo revision and many are discarded, overthrown, or reversed. They are historical things, not universal truths. A surprisingly small amount of what I learned in science courses 20 and 30 years ago is still true. As that great philosopher of science John McPhee wrote, “science erases what was previously true” (Oranges, p. 75). Because scientists search for universal, timeless mechanisms, they easily slip into language suggesting that they discover universal, timeless truth. But there is uncertainty, contingency, malleability built into every scientific fact.

This goes double for genome information. The 23andMe product, like every genome test, provides probabilities of risk, not mechanisms. Probabilities are messy and hard to understand. They carry an almost irresistible tendency to be converted into hard facts. If you flip a coin 9 times and it comes up heads every time, you expect the next flip to come up tails. And if you get heads 49 times in a row, the next one has got to be tails, right? Even if you know intellectually that the odds are still 50:50, just like on every previous flip. You can know you have a particular gene variant, but in most cases, neither you nor anyone else knows exactly what that means. Despite the language of probability that dots the 23andMe literature, their overall message—and the one clearly picked up by many of their clientele—is one of knowledge in the colloquial sense. And that is oversell.

Human genetics has always been characterized by overstatement and hype. In the early 1900s, the rediscovery of Mendel’s laws persuaded many that they now understood how heredity works. Although every scientist acknowledged there was still much to learn, prominent students of human heredity believed they knew enough to begin eliminating human defects through marriage and sterilization laws. We now view such eugenic legislation as almost unbelievably naive. Combine that naivete with race, gender, and class prejudice and you obtain a tragically cruel and oppressive eugenics movement that resulted in the coerced sterilization of many thousands, in the US and abroad—including, of course, the Nazi sterilization law of 1933, based on the American “model sterilization law,” which culminated not only in racist forced sterilization but euthanasia.

Human-genetic hype hardly ended with the eugenics movement. In 1960s, as human diseases were finally being mapped to chromosomes, it seemed transparent that if a chromosomal error that produces an individual with an XXY constitution feminizes that individual (which it does), then an extra Y chromosome (XYY) must masculinize. Such “super-males,” data seemed to suggest, were not only taller and hairier than average, but also more aggressive and violent. It was, for a while, a fact that XYY males were prone to violent crime.

The molecular revolution in genetics produced even more hype. When recombinant DNA and gene cloning techniques made it possible to try replacing or augmenting disease genes with healthy ones, DNA cowboys hyped gene therapy far beyond existing knowledge, promising the end of genetic disease. The 1995 Orkin-Motulsky report acknowledged the promise of gene therapy but noted,

Overselling of the results of laboratory and clinical studies by investigators and their sponsors…has led to the mistaken and widespread perception that gene therapy is further developed and more successful than it actually is.[1]

Soon after this report was published, Jesse Gelsinger died unexpectedly in a gene-therapy trial, patients in a French gene-therapy trial for adenosine deaminase (ADA) deficiency unexpectedly developed leukemia, and the gene-therapy pioneer W. French Anderson was arrested, tried, and convicted on charges of child molesting—in other words, abusing and overestimating his power over the children whose health was entrusted to him. The risks of failing to heed warnings about genetic oversell are high.


Like gene therapy, genome profiling has great promise, but the FDA letter to 23andMe is a stern reprimand to an industry that, like gene therapy and the entire history of human genetics, blurs the line between promise and genuine results.

The current controversy over commercial genome profiling has two qualities that distinguish it as particularly serious. First, unlike previous examples of overselling human genetics, it is profit-driven. The “oversell” is more literal than it has ever been. Although 23andMe presents as a concerned company dedicated to the health of their clientele, they are also—and arguably primarily—dedicated to their stockholders. In a for-profit industry, oversell is a huge temptation and that risk needs to be made transparent to consumers.

Second, the 23andMe test is being sold directly to individuals who may not have any knowledge of genetics. The tendency to convert risks into certainty is higher than ever. The knowledge they sell is a set of probabilities, and further, those probabilities are not stable. The consumer may not—indeed probably doesn’t—appreciate how much we know, how much we don’t know, and how much we don’t even know we don’t know. The company claims to be selling knowledge but in fact they are selling uncertainty.

In a characteristically insightful and clarifying post, the geneticist (and 23andMe board member) Michael Eisen doubts whether the 23andMe test will ever meet FDA’s definition of a “medical device.” It is not an MRI machine or a Wasserman test. It’s something new. Adequate regulation of products such as the 23andMe genome profile will require rethinking of what exactly the company is marketing.

Putting this controversy in context, then, illustrates another critical risk: the risk of failing to acknowledge the uncertainty underlying the science. In some sense, the more we learn, the less we know.


[1] Orkin, S. H., and A. Motulsky. Report and Recommendations of the Panel to Assess the NIH Investment in Research on Gene Therapy.  Bethesda, MD: National Institutes of Health, 1995.