After touching upon some of the earliest methods of designing babies, I move through Francis Galton and some of the history of eugenics that should be familiar to Genotopia readers by now. But I take the story up through CRISPR, arguing first that attempts to design our children are all but certain; and second, that they are almost certain to fail. What both the cheerleaders and the hand-wringers fail to take into account is the complexity of the genomics in a species as complex and modulated by culture as ours. Any trait that’s very interesting socially—criminality, sexuality, drug addiction, aggression, etc.—is going to be extraordinarily complex and won’t be reducible to single genes, or even a few.
By all means, new techniques such as CRISPR can and should be applied where they can bring genuine medical benefit. But I caution that high-tech medical benefit comes with social costs—and that high-tech biomedical hype always overreaches real clinical reality.
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.
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.
In the early days of personalized genomic medicine, skeptics wondered how tailored medical care could be profitable. Who would develop a drug for just one or a few people?
Turns out they were looking in the wrong direction. The answer lies in genetic testing more than drug development. A detailed report in today’s New York Times examines how the promise of personalized or precision medicine is being “tainted” by hype. “Across the industry,” they write,
investors are pumping tens of millions of dollars into clinical laboratories that are developing and selling the genetic tests. President Obama recentlycalled on Congress to spend $215 million next year on personalized medicine, calling it “one of the greatest opportunities for new medical breakthroughs that we have ever seen.” A major use of the federal funds would be to create a research group of a million volunteers that would provide scientists with an enormous collection of data.
Doctors and their patients, finding it hard to resist the promise, are being swept up in the excitement. The number of tests has almost doubled in the last few years, creating a $6 billion industry.
While acknowledging that some genetic tests are proving highly valuable–particularly in diagnosing different forms of cancer, which can respond highly specifically to certain drugs depending on the mutation–they note that many genetic tests are doing more to fatten corporate wallets than they are to improve patient care. The tests often run to $1000 or more.
WIth so much at stake, federal regulators are growing concerned about fraud. Turns out some doctors are ordering and charging for tests that people don’t need!
An internal chart reviewed by The New York Times suggests the company was not shy about pointing out that doctors could amass a substantial income by participating. If a doctor enrolled five patients per day and took 110 swabs per month, that physician could earn as much as $125,400 in compensation from the study over a year.
“Precision medicine” has become a biomedical buzzword, largely replacing “personalized” or “individualized” medicine. In his 2015 State of the Union Address, President Obama announced a “Precision Medicine Initiative.” I first heard the term in May 2013 as an updating ofThis seems to be about the time its use began to take off. Researching a talk, though, I was surprised to find a much earlier use, from 1979. The sense is the same, but the context very different.
In the first issue of volume 7 of the American Journal of Chinese Medicine, Ling W. Wei, an electrical engineer at the University of Waterloo, Ontario, published an article titled “Scientific advances in acupuncture.” At that time, “alternative” or “comparative” medicine was new enough that he felt the need to define acupuncture as a branch of Chinese traditional medicine. He notes that Richard Nixon’s visit to China in 1972 put acupuncture in the spotlight for Westerners, noting that the scientific community was “aloof and apathetic, if not down right scornful” of the technique. Wei proceeds to evaluate acupuncture as scientific medicine.
There’s much to say about this fascinating paper, but I note here just one passage, on pp. 70-71.
The trend of technological advance in acupuncture holds great promise of promoting medicine in three directions,” he writes. These are what he calls the “three P’s”: preventive medicine, precision medicine, and people medicine.” This is remarkably close to Leroy Hood and colleagues’ “P4” medicine (“personalized, predictive, preventive, participatory”), first discussed in 2010. Wei’s formulation captures all the sense of Hood’s, but more concisely (preventive follows from predictive). But where Hood’s P4 medicine is predicated on reductive genomics, Wei imagines an equally high-tech but image-based approach.
Preventive medicine, writes Wei, “can be realized only with the availability of a simple, non-invasive and thorough physical check-up method. Like a TV screen, it should be able to expose the whole picture of the body’s condition in various colors and patterns.” He then goes on to imagine much more than a TV screen. “Precision medicine,” he continues, “requires similar methodology and, furthermore, a great analytical power in technology. For example, two common diseases of modern times, headache and hypertension, have many causes and the precise origin of the symptom is sometimes very difficult to diagnose.” Acupuncture can help. “Acu-points can serve as alarming outposts in internal organs when sick.” Merging ancient Chinese medicine with futuristic Western technology, he writes,
“If the electrical signals from 365 or a selected number of acu-points of the whole body are successively stored and then fed to a specially designed TV monitor, the pattern of this “holography” could tell us the whole story of the person’s health condition and thereby reveal not only the precise origin of the current illness but also perhaps some hidden signs of developing symptoms. To make the interpretations more precise, this holographical pattern could be fed to a “diagnostic computer” and let it be compared to thousands of standard patterns (in storage) of established causes. If a match or near-match is found, then the cause is said to be pinpointed. A man could take a “holography” anytime or once a year and the film can be as small as the palm. If in the future every drugstore had a terminal link (perhaps through telephone lines) to a central computer, one could simply insert his holography film into the machine and get an instant print-out telling his health condition. That day is not too far off; because the technology in opto-electronics and computers is almost ready for this “diagnostic automat” to be within reach.
The precision required in acupuncture is obvious and material: you have to put the needles in exactly the right place. It’s rather stunning how close Wei’s vision is to what contemporary precision medicine is aiming at, by very different means.
 Wei, L. Y. “Scientific Advance in Acupuncture.” Am J Chin Med 7, no. 1 (Spring 1979): 53-75.
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.
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.
 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.
Hey honey–remember when I accidentally left the chicken coop open and they all flew away? Well I think they’ve come back home to roost!
Last summer, we did an analysis of the 23andMe commercial promoting their genetic testing service and the egotistical identity politics it both taps into and contributes to. The ad was all about how your genes were “You” and knowing about them would enable you to predict your genetic future. Genetic profiling can in some cases give robust statistical estimates of likelihood of certain genetic conditions, but it is safe to say that we rarely know what that means. And it’s presented as though we do.
The 23andMe saliva sample kit, says FDA, is a “medical device,” “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.
They cite the company’s claims to allow patients’ genome profiles to help them assess “health risks,” and “drug response,” and specifically as a “first step in prevention” that enables users to “take steps toward mitigating serious diseases” such as diabetes, coronary heart disease, and breast cancer.
This is not a shot over the bow–it’s the last straw. FDA has warned 23andMe repeatedly, going back to July, 2012, that they were making health claims about their product that they couldn’t back up.
The company offers two types of products: a genealogical “panel” or profile, and a health panel. The genealogical panel is popular but is apparently considered a harmless hobby, or at least outside the purview of the Public Health Service. It is not clear whether FDA (which, like the National Institutes of Health and the Centers for Disease Control) falls under the sprawling PHS will have any concerns about genealogical applications of the saliva test, but that would seem unlikely. The problem for 23andMe is that, as shown by the ad we analyzed earlier, they have been pushing the health panel very hard. Family trees are a hobby; health is where the real money is.
Direct-to-consumer medicine trails an appealing democratic, anti-authoritarian perfume that seems to make people slightly drunk. Mild intoxication can be pleasant, need not be dangerous, and sometimes can be a spur to creativity. But it can also impair your judgment. When you’ve gotta drive the kids home, you may need a couple cups of good strong regulatory coffee and a couple hours to sober up before getting behind the wheel.
A good deal of “preventive, participatory, personalized” medicine is profit-driven, and stockholders don’t necessarily have the public’s health foremost in mind. The FDA warning is a good illustration of why it’s important to balance the goal of stimulating innovation and economic growth with the goal of maximizing health. For the former, the free market can be a powerful tool. But for the latter, sometimes you need a little good old-fashioned meritocratic oversight.
Thoughtful blog post over at Nature recently by Erika Check, on a $25M set of 4 studies that will sequence the exomes of 1500 neonates, whether ill or not. Called the Genomic Sequencing and Newborn Screening Disorders program, it is essentially a pilot study for universal newborn genome sequencing. One could see such a study coming down the pike. But if this is a direction in which medicine is heading, we should be moving like a wary cat, not like a bounding puppy.
The dominant rhetoric for whole-genome screening sketches a benevolent world of preventive care and healthier lifestyles. “One can imagine a day when every newborn will have their genome sequenced at birth,” said Alan Guttmacher, director of NICHD, which co-sponsors the program with the genome Institute. In his genotopian vision, a baby’s sequence “would become a part of the electronic health record that could be used throughout the rest of the child’s life both to think about better prevention but also to be more alert to early clinical manifestations of a disease.”
But deeper in her article, Check responsibly quotes a skeptic, Stephen Kingsmore of Children’s Mercy Hospital and Clinics in Kansas City, who estimates that the program is likely to find 20 false positives for every true positive. In other words, only around 5% of what will loosely be called “disease genes” will in fact lead to disease. One of the reasons for that low rate of true positives is that many of the disease alleles we can screen for concern diseases of old people: Alzheimer’s, various cancers, and so on. Life experience plays a large and still imperfectly understood role in such diseases. Sure, we can test at birth or even before for the SNPs we know correlate with those diseases, but, Check asks, what does that really tell us?
In Guttmacher’s sunny scenario about early prevention, the parents and later the child could be regularly reminded of this individual’s elevated risk. This itself has not only direct health risks but potentially a significant inadvertent impact on the patient’s social life. Everything from the child’s temperament (is she anxious by nature?) to family situation (ill siblings? Alcoholic parent? Suicide?) to many other factors could profoundly modulate how this genetic knowledge would affect the child. Social context matters.
But such an individualized, lifelong health-maintenance program is unlikely ever to be accessible beyond medicine’s most elite customers. Personalized medicine has been around since the ancient Greeks, and, logically enough, it’s expensive. Only the rich have ever been able to afford truly individualized care. “Personalized medicine” seems to have almost as many meanings as people who use the term, but if what you mean by personalized medicine is a physician who knows you as an individual and tracks your healthcare over a significant part of your lifetime, you’re talking about elite medicine.
Medicine for the middle and lower classes tends to be much more anonymous and impersonal. Throughout medical history, the headcount–if they can afford a doctor at all–get more routinized, generalized care. Even many in that fortunate segment of the population today who have health insurance attend clinics where they do not see the same doctor every time. In any given visit, their doctor is likely to know them only by their chart. No one asks, “Has your family situation settled down yet? Are you sleeping better? How’s your new exercise program going?” What you get is a 15-minute appointment, a quick diagnosis, and, usually, a prescription. Genomic technology is unlikely to change this situation. If anything, it will enhance it.
For the hoi polloi, then, personalized medicine will likely mean personalized pharmacology. Some of those most excited about personalized medicine are biotech and pharma companies and their investors, because some of the most promising results from genomic medicine have been new drugs and tests. Should neonatal genome screening become part of routine medical care, middle and lower-class parents would likely be given a report of their child’s genome, the associated disease risks, and a recommended prophylactic drug regimen. Given an elevated risk of high cholesterol or other heart disease, for example, you might be put on statins at an early age. A SNP associated with bipolar disease or schizophrenia might prompt preventive anti-depressants or anti-psychotics. And so forth.
Such a program would be driven first by the principles of conservative medical practice. Medicine plays it safe. If there’s a risk, we minimize it. If you go to the ER with a bad gash, you’ll be put on a course of antibiotics, not because you have an infection but to prevent one. Second, it would be driven by economics. Drug companies obviously want to sell drugs. So they will use direct-to-consumer marketing and whatever other tools they have to do so. That’s their right, and in a comparatively unregulated market, arguably their duty.
But now recall Kingmore’s figure of 20 false positives for every true positive. This may sound high, but again, medical practice is conservative: we’d rather warn you of a disease you won’t get than fail to notify you of a disease you will get. False positives, in other words, are preferable to false negatives. Add to that the scanty state of our knowledge of gene-environment interactions. We are rapidly accumulating mountains of data on associations between SNPs and diseases, but we still know little about how to interpret the risks. We needn’t invoke any paranoid conspiracy theory: that kind of data is devilishly hard to acquire. Science is the art of the soluble.
If Kingmore is even in the ballpark, then, the more neonatal genome screening reaches into the population, the more unnecessary drugs people will be taking. Unnecessary medication of course can have negative effects, especially over the long term. Indeed, the long-term and developmental effects of many medications–especially psychiatric medications–are unknown.
The Genomic Sequencing and Newborn Screening Disorders program is purely an investigative study. Parents in this study won’t even be given their children’s genome reports. But the study is obviously designed to investigate the impact of widespread neonatal whole-genome screening. Currently, all 50 states administer genetic screening for phenylketonuria and other common diseases. The historian Diane Paul has written a superb history of PKU screening. It’s not hard to imagine a similar scenario playing out, with one state leading the way with a bold new program of universal newborn exome screening and, in a decade or two, all other states following its lead.
“Personalized medicine” is a term that’s used increasingly loosely. It covers a multitude of both sins and virtues, from old-fashioned preventive regimens to corporate profiteering. From here, widespread neonatal genome screening looks like an idea that will benefit shareholders more than patients.
Is eugenics a historical evil poised for a comeback? Or is it a noble but oft-abused concept, finally being done correctly?
Once defined as “the science of human improvement through better breeding,” eugenics has roared back into the headlines in recent weeks as both Mr. Hyde and Dr. Jekyll. The close observer may well wonder which persona will prevail. The snarling Mr. Hyde is the state control over reproduction. Although this idea may evoke visions of Nazi genocide, the U.S. itself has a long, unsavory eugenic history, stretching through much of the 20th century. And now it extends into the 21st: the recent investigation by the Center for Investigative Reporting, which showed that between 2006 and 2010 nearly 150 pregnant prisoners had been sterilized against their will in California, was a stunning reminder that traces of the old eugenics remain in our current century. Another recent story—a polemical but informative three-part series on the continued efforts of Project Prevention, a private effort begun in 1997 that pays poor and drug-addicted women to be sterilized—highlights some of the complexities of reproductive rights. Payment of the poor or incarcerated has long been acknowledged as a form of coercion; yet some such women genuinely welcome the opportunity not to bear more children they cannot afford without curtailing their sex lives. Sorting out these issues has been a problem at least since North Carolina’s eugenics program, begun in the 1940s, which sterilized thousands through the 1950s and 1960s, with the express approval of the state. A dabbing of eyes and collective sigh of closure accompanied the news this month that the North Carolina legislature will pay a total of $10 million to the program’s victims, or, as they were known at the time, patients.
Eugenics critics are still the vocal majority, spanning the political spectrum. But in recent years, a growing constituency of Drs. Jekyll within the biomedical community has sought to resurrect eugenics as something that, if done correctly, can bring about marvelous benefits for humankind. The key to the new eugenics, they say, is individuality—a word with complex resonances ranging from “individualized medicine” to individualism, a cherished American value. Indeed, the new eugenics is sometimes called “individual” eugenics. A recent article by Jon Entine, of the Center for Genetic Literacy at George Mason University, exemplified this push for eugenicists to come back out of the night. Prenatal genetic diagnosis is eugenics, Entine says—“and that’s okay,” because it is controlled by individuals, not governments. This sparked a lively debate on both his blog and mine. To those following the discussion this summer, individuality seems to be fighting for the soul of eugenics.
Individuality is one of the oldest and newest terms in medicine. The Hippocratic physicians acknowledged that each patient was a unique, individual constellation of heredity, environment, and experience (although individualized treatment was, as today, reserved for those who could afford it). In the second century A.D., Rufus of Ephesus stressed the importance of interrogating the patient as to habits, preferences, experiences, and congenital diseases as an aid to diagnosis. The development of the case-study method in the Early Modern period signaled new attention being focused on the individual; each case came to be understood as a unique manifestation of disease. Yet one of the greatest transformations in medicine—the 19th century concept of specific disease, caused by a specific disease agent such as the cholera vibrio or the tubercle bacillus—shifted the physician’s gaze from the patient to the disease. Although this development led to enormous gains in the potency of medical therapy, some have rued the disappearance of the “sick man.” The current fad for “individualized” or “personalized” medicine is, among other things, the latest call for a return to patient-centered medicine. Increasingly, the physician interrogates the patient’s genome, learning far more from the sub-microscopic ticker-tape of DNA in her cells than Rufus’s wildest dreams could conjure.
But some question whether this new technology really puts the person back into medicine. Critics point out that personalized medicine often seems to concern profit more than health. Indeed, tech business sites show that personalized medicine is one of the healthcare industry’s biggest growth areas. Cui bono? Here is where individuality meets individualism—the libertarian swing that has captured much of American culture in recent decades. Events as disparate as the stock-market bubble, gay marriage, legalization of marijuana, and “right-to-carry” laws illustrate the resurgence of this quintessential American value. Individualism, of course, runs deep in the American identity, but not since the Gilded Age have the individualist mythos and free-market economics enjoyed such dominance. Indeed, the main arguments in domestic politics today seem to concern how and how fast to cut costs and disempower the government. Individualized medicine can be seen as individualist as well: many advocates stress that the new medicine must be “participatory,” meaning that the patient has increased responsibility for their own care. Modern individualism means everyone looks out for their own interests—from biotech CEOs to hospitals to patients.
The old eugenics was top-down and collectivist. Francis Galton proposed eugenics in Victorian England, as a humane alternative to the ruggedly individualist but misleadingly named social Darwinism. (More accurate though less sonorous would have been “social Spencerism,” after Herbert Spencer.) Rather than letting the weak kill off themselves and each other, Galton proposed a system of tax incentives and education programs he thought would lead the poor, sick, and stupid to voluntarily have fewer children—and the healthy, wealthy, and wise to voluntarily breed like rabbits. Human evolution could thus be gently directed toward perfection with much less suffering. Galton counted on evolution’s losers to unselect themselves, for the greater good.
After 1900, eugenics became yet more collectivist and much more potent, particularly in Progressive-era America. Progressivism was, fundamentally, a reaction to the exploitative practices of what Mark Twain called the “Gilded Age”—the industrial boom of the 19th century. Americans were fed up with the selfish greed and worker exploitation of Andrew Carnegie (an avid social Spencerist), Cornelius Vanderbilt, JP Morgan, and the other “Robber Barons.” (The fact that the history of American industrialism is more complicated than this doesn’t alter the mythos that motivated people at the time.) Progressives counted on Government as the only social entity powerful enough to stand up to industry, but even many who did not identify with the Progressive Party valued personal sacrifice for the greater good. The first part of the twentieth century was, by American standards, a moment of profound shift toward collectivism. However, progressivism was also about science. The rediscovery of Mendel’s principles in 1900 seemed to do for heredity what Marie Curie’s radium and Rutherford’s splitting of the atom did for physics: crack open the secrets of nature, providing hitherto unknown power to harness natural forces for the good of humanity.
The combination of collectivism and science could be deadly. Progressive-era eugenics grew highly coercive and—as politics always does—reflected the prejudices of the day. State after state passed laws that prevented miscegenation, restricted marriage, and permitted sterilization without consent for people with “defects” ranging from epilepsy to mild mental retardation to tuberculosis. Congress heard testimony from arch-eugenicist Harry Laughlin before passing the restrictive 1924 Johnson Immigration Act, and, to his great pride, Laughlin’s “Model Sterilization Law” served as the basis of the Nazi eugenic law of 1933. Thirty-five states ultimately had sterilization laws on the books. Contrary to widespread belief, the Second World War did not crush the eugenic spirit, though it did modulate it. Eugenics became increasingly medicalized. For example, the North Carolina eugenics program was run by credentialed, even distinguished physicians and scientists. Although coerced sterilizations dropped sharply during the Cold War, many of the laws remained on the books into the 1970s.
Not entirely coincidentally, about that time, “eugenics” became a dirty word. Even through the 1960s, it was possible for respected scientists to write that eugenics had a “sound core,” despite having been abused by the Germans. The conscious betterment of our gene pool, the self-direction of human evolution, had been a goal of human genetics throughout the field’s history. But by the 1980s, explicit discussion of eugenics had become Verboten, and even eugenics critics tended to think that the term had simply become too loaded to be productive. Calling someone a eugenicist was tantamount to calling him a Nazi.
It is fascinating, then, to watch a small but growing contingent within the scientific community begin to use “eugenics” again voluntarily, even proudly. In recent years, authors such as DJ Galton, Nicholas Agar, John Harris, Matt Ridley, Julian Savulescu, and others have argued that it is time to reopen a discussion of eugenics. Like the original Galtonian eugenics, this new eugenics was voluntary and aspirational, but it traded collectivist altruism for personal choice. Some of the new eugenicists were coy about the term: “In point of fact, we practise eugenics when we screen for Down’s syndrome, and other chromosomal or genetic abnormalities,” said Savulescu in a 2005 interview. “The reason we don’t define that sort of thing as ‘eugenics’, as the Nazis did, is because it’s based on choice. It’s about enhancing people’s freedom rather than reducing it.” However, others called a spade a spade. Agar, for example, used a similar argument about choice—“prospective parents should empowered to use available technologies to choose some of their children’s characteristics”—but titled his 1998 book Liberal Eugenics.
Modern medicine, yielding to the demands of real progress, is becoming less a curative and more a preventive science. From an art of curing illness, it is becoming a science of health. It is safe to predict, I believe, that…medical men generally will be more of the order of guardians of the public health than doctors of private diseases.
Though they could stand as an epigram for genomic individualized medicine, those words were written one hundred and one years ago, in an article called “Eugenics and the medical curriculum,” by Harvey Ernest Jordan, later the Dean of Medicine at the University of Virginia. His next sentence, however, gives away that he is writing in 1910, not 2010: “This represents the medical aspect of the general change from individualism to collectivism.” To adapt Jordan’s quote to our century, we’d only need to reverse those last three words. Collectivism is now anathema.
Today’s nouveau eugenicists argue explicitly that the general change back to individualism is what defangs the new eugenics. In Cold Spring Harbor’s 2008 reissue of Charles Davenport’s big book, 1910’s Heredity and Eugenics, Matt Ridley writes,
There is every difference in the world between the goal of individual eugenics and Davenport’s goal. One aims for individual happiness with no thought to the future of the human race; the other aims to improve the race at the expense of individual happiness.
First, that remark is disingenuous. “Control and nothing else is the aim of biology,” wrote Jacques Loeb in 1905. Efforts such as the J. Craig Venter Institute’s efforts to engineer life “from scratch” or the “BioBricks” project—an open-source genetic engineering project, like SourceForge for wetware—make clear that designing living things from the DNA up is a conscious and widespread goal. It cannot but merge with medicine eventually. Further, concern for individual happiness has never been mutually exclusive of concern for the race. In 1912, Charles Davenport recognized this in 1912 when he wrote that physicians have an obligation to practice eugenics, for the individual, for the family, for the community, and for the race. Concern for your individual child is concern for a member of your family lineage. Savulescu’s principle of procreative beneficence—that one has a moral obligation to bring the best children possible into the world—grades into the view that we have such an obligation, collectively. Individual eugenics, in other words, becomes a species of collective eugenics.
Second, is giving no thought to our future truly anodyne against disaster? If collectivism carries the risks of the slavish embrace of ideology and the concentration of power, individualism carries the risks of selfishness and lack of foresight. Consider other individualistic approaches to technology—to name but one example, the impact of technology on our climate. Aiming for individual happiness with no thought to the future of the human race has led to countless inventions that provide individual happiness for millions of people every day: air conditioning, automobiles, smartphones, cheap food, global travel, and much more. However, all these devices and industries contribute massively to climate change. We have understood the climatic effects of anthropogenic CO2 for decades, but individual happiness (including not least that of the corporate CEOs) has trumped any thought for the future. We have, in short, altered an enormously complex system without meaning to, and the results, according to scientific consensus, may be catastrophic.
Our genome creates a climate within our body. Recent findings make clear that it is a dynamic, complex system—a “sensitive organ of the cell,” as Barbara McClintock wrote presciently in 1984. Under this view, Progressive-era marriage and sterilization laws regulated whole bodies and their relations, while modern genomics regulates single genes and their relations. Bringing the decision within the body’s boundaries makes individual choice possible. But it also disrupts a complex genetic ecosystem, which any scientist will admit we know almost nothing about. Our knowledge of this ecosystem is changing incredibly rapidly; it is certain that in 20 years, today’s knowledge will seem almost incomprehensibly primitive. Almost inevitably, then, altering individual components of the system in isolation will have unforeseeable consequences. Dog breeders, exercising individual choice, produced modern Labrador Retrievers, a breed blessed with qualities of temperament, strength, and beauty, but plagued by eye problems and a tendency to hip dysplasia. Selection at the level of individual genes is likely to increase, not decrease, such problems. Individual choice, then, is subject to pressures of fashion and the profit motive, which are no better guides to evolution than bureaucracy.
In short, as blogger Razib Khan has noted, we already live in the new age of eugenics. But we shouldn’t delude ourselves that the latest political pendulum swing immunizes us against its risks. Individualism solves the problems of collectivism in mirror image of the ways that collectivism solves those of individualism. To treat either approach as a panacea is both naive and dangerous. The sociologist Nikolas Rose argues that our health status is becoming more important than our labor in shaping our identity. Many people today may find more in common with a fellow cancer victim or celiac sufferer than with a fellow plumber or banker. Such “biological citizenship” will obviously be profoundly influenced by genome screening, prenatal diagnostics, and other techniques of the new eugenics. This fact should remind us that although our identity may be unique, it is never isolated. We are all individuals within a collective.
Comfort, Nathaniel. The Science of Human Perfection: How Genes Became the Heart of American Medicine. Yale University Press, 2012.
———. The Tangled Field: Barbara Mcclintock’s Search for the Patterns of Genetic Control. Cambridge, MA: Harvard University Press, 2001.
Davenport, Charles. “Eugenics and the Physician.” New York Medical Journal June 8 (1912): 1195-99.
Jewson, N. C. “The Disappearance of the Sick-Man from Medical Cosmology, 1770-1870.” Sociology 10 (1976).
Schoen, Johanna. Choice & Coercion: Birth Control, Sterilization, and Abortion in Public Health and Welfare. Chapel Hill: University of North Carolina Press, 2005.
Stern, Alexandra Minna. Telling Genes: The Story of Genetic Counseling in Modern America. Baltimore, MD: Johns Hopkins University Press, 2012.
Rose, Nikolas. The Politics of Life Itself: Biomedicine, Power, and Subjectivity in the Twenty-First Century. Princeton University Press, 2006.
Rufus of Ephesus. “On the Interrogation of the Patient.” In Greek Medicine, Being Extracts Illustrative of Medical Writers from Hippocrates to Galen, edited by Arthur John Brock. xii, 256 p. New York,: AMS Press, 1972.
Nathaniel Comfort is Associate Professor of the History of Medicine at Johns Hopkins School of Medicine. He is the author, most recently, of The Science of Human Perfection: How Genes Became the Heart of American Medicine (Yale, 2012). He also writes the blog Genotopia (http://genotopia.scienceblog.com) and can be followed on Twitter at @nccomfort.
 Agar, Nicholas. “Liberal Eugenics.” Public Affairs Quarterly 12, no. 2 (1998): 137-55, p. 2.
 Jordan, H. E. “The Place of Eugenics in the Medical Curriculum.” In Problems in Eugenics: Papers Communicated to the First International Eugenics Congress. 396-99. Adelphi, W. C.: Eugenics Education Society, 1912.
 Ridley, Matt. “Davenport’s Dream.” In Davenport’s Dream: 21st Century Reflections on Heredity and Eugenics. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press, 2008, ix-xi.
 Loeb, Jacques. Studies in General Physiology. Chicago: University of Chicago Press, 1905, ix.