Tag Archives: genetic diagnosis

A little cold water

I’ve had it with ice buckets.

bar craft tin large blue oval party drinks pail ice bucket cooler beer wine 3622 p A little cold water

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.

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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.

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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 wait 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.

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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 stupid 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.

portrait mrc 900w DNA Day Hype

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 DNA Day Hype

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 Crick in office DNA Day Hype

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.

277px Edouard Manet 059 Suicide genes? Just kill me now

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.

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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.

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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.

Neonatal genome screening: preventive medicine or prophylactic profiteering?

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 There Any Malevolence to Procreative Beneficence?

John Belmont has asked a question that deserves a separate post. This is necessarily brief and should not be mistaken for a general survey of this concept, but the concept is so general that it deserves a somewhat fuller answer than I can (or should) give in the comments. Here is John’s question:

Can you discuss Savelescu’s Procreative Beneficence in the context of these new genetic screening technologies? (Screening that then often triggers definitive diagnostic testing)
It seems normal for parents to desire healthy offspring. Is it evil or morally suspect for a couple to choose healthy offspring?

In 2001, Julian Savulescu advanced a principle he calls “procreative beneficence,” which states that “couples (or single reproducers) should select the child, of the possible children they could have, who is expected to have the best life, or at least as good a life as the others, based on the relevant, available information.” It is of that species of ethical principles called “intuitive”: on the face of it, who could argue on behalf of not providing the best possible conditions for one’s child, whether they be environmental or genetic? So no, of course it’s not evil to choose healthy offspring, so long as one is morally okay with disposing of “unfit” embryos or young fetuses. But its morality is less straightforward.

Savulescu’s idea has spawned a sizable secondary literature, especially among bioethicists, most of whom have tried various tacks to destroy his principle. A full discussion and evaluation of this literature is more than I can undertake here, but i’ll provide a starter bibliography at the bottom.

Few–including Savulescu himself–deny that PB is an element of the “new eugenics.” By this is meant an “individualized” or “liberalized” (or even “commercialized”) eugenics, rather than a state-controlled eugenics. This distinction is entirely appropriate. State-controlled eugenics is part of a specific historical context, whereas I see eugenics as a trans-historical principle (what I have more colloquially called an “impulse”). The eugenic impulse goes beyond notions of “old” or “new” eugenics: eugenics is just there, manifesting in different ways in different periods. Empirically, we appear to be driven to take control of our own evolution.

On the surface, Savulescu’s principle, like arguments in favor of “new” eugenics generally, appears not to be concerned with control over human evolution. It refers only to choices about specific individuals—a couple’s (or individual’s) choices about the genome of an embryo or fetus, it doesn’t concern the well-being of the population. However, <a href=”http://www.ncbi.nlm.nih.gov/pubmed/20047587″ target=”_blank”>Elster</a> shows that procreative beneficence is impossible to fully separate from “General Procreative Beneficence”–the idea that “couples ought to select children in view of maximizing the overall expected value in the world, not just the welfare of their future child.” Most literature advocating the new eugenics treats the individual and the population as wholly distinct, yet of course what is a population but a collection of individuals? These two principles–concern for the individual and concern for the population– are by no means mutually exclusive; indeed, the thrust of my book is that they have always coexisted. It’s naive (or cynical) to act as though one can be separated from the other.

Under this view, PB is in fact an indirect means of directing the evolution of the population. My position is that state control is not what makes a practice eugenic. What makes a reproductive practice eugenic is whether it includes a decision about the welfare of the population; whether it is subject to social (including economic) pressures. If one is “merely” choosing the “best” possible child, few of us have the luxury of ignoring racial features, for example. The “best” child is the best in a particular or anticipated environment. The literature on PB that I have read does not take this fully into account.

If the “best” environment is truly adapting, shifting, and local, then we have Darwinian conditions, in which the population is “evolving itself” with no particular end. This is morally less troubling than a Spencerian goal-directedness. I make no claim to being a moral philosopher, but as a historian, it seems morally less responsible to deny parents that freedom than to allow it. In sum, I am not persuaded by moral arguments against PB.

But I have rational arguments against it. They are two: What if it doesn’t work?; and What if it does?

What if it doesn’t work? We can tinker with genomes long before we understand them, the way one can learn a few Unix commands without fully comprehending the operating system. I worry we will make bad choices. I worry we will uncouple biological systems that have evolved together for millennia. I worry that our technology outstrips our wisdom.

What if it does? I worry that corporate control–via market pressures, advertising, and so forth–may prove even more potent than government control. I worry that PB will instantiate in our very DNA ideas of normalcy that may transcend local conditions and become general principles of human perfection. I worry that it will encourage the idea that genes are all; that we can simply “dial in” the child we want; that we will rob poorly funded social programs to pay for already amply funded research programs for the elite. Historical examples do not provide a comforting set of models for human behavior in these areas.

In short, then, it may not be “evil” to choose the genetic constitution of a child, but in doing so we are making many more choices than we are aware of.

 

Some references on procreative beneficence:

Savulescu, J. “Procreative Beneficence: Why We Should Select the Best Children.” Bioethics 15, no. 5-6 (Oct 2001): 413-26.
Savulescu, J. “In Defence of Procreative Beneficence.” J Med Ethics 33, no. 5 (May 2007): 284-8. doi:10.1136/jme.2006.018184.
Savulescu, J., and G. Kahane. “The Moral Obligation to Create Children with the Best Chance of the Best Life.” Bioethics 23 (Jun 2009): 274-90. doi:10.1111/j.1467-8519.2008.00687.x.

Herissone-Kelly, P. “Procreative Beneficence and the Prospective Parent.” J Med Ethics 32, no. 3 (Mar 2006): 166-9. doi:10.1136/jme.2005.012369.
Bennett, R. “The Fallacy of the Principle of Procreative Beneficence.” Bioethics 23, no. 5 (Jun 2009): 265-73. doi:10.1111/j.1467-8519.2008.00655.x.
Elster, J. “Procreative Beneficence: Cui Bono?”. Bioethics 25, no. 9 (Nov 2011): 482-8. doi:10.1111/j.1467-8519.2009.01794.x.
Herissone-Kelly, P. “Reasons, Rationalities, and Procreative Beneficence: Need Hayry Stand Politely by While Savulescu and Herissone-Kelly Disagree?”. Camb Q Healthc Ethics 20, no. 2 (Apr 2011): 258-67. doi:10.1017/S0963180110000903.
Bourne, H., T. Douglas, and J. Savulescu. “Procreative Beneficence and in Vitro Gametogenesis.” Monash Bioeth Rev 30, no. 2 (Sep 2012): 29-48.
Herissone-Kelly, P. “Wrongs, Preferences, and the Selection of Children: A Critique of Rebecca Bennett’s Argument against the Principle of Procreative Beneficence.” Bioethics 26, no. 8 (Oct 2012): 447-54. doi:10.1111/j.1467-8519.2010.01870.x.
Hotke, A. “The Principle of Procreative Beneficence: Old Arguments and a New Challenge.” Bioethics (Jul 29 2012). doi:10.1111/j.1467-8519.2012.01999.x.
Bennett, R. “When Intuition Is Not Enough. Why the Principle of Procreative Beneficence Must Work Much Harder to Justify Its Eugenic Vision.” Bioethics (Jul 10 2013). doi:10.1111/bioe.12044.