They look like models from a Cialis ad: healthy, prosperous, white, late thirties or early forties. If you were guessing, you’d say the man was an executive in a nonmedical field, that the wife has a professional degree but scaled her career back for family, and that they drove to the office together in a silver Lexus SUV. His hobby is golf, hers is scrapbooking. You see them over the doctor’s shoulder – he’s a blurred white coat in the foreground – and they look concerned but reassured, as if they have just received good news about a solvable problem. The husband’s arm is positioned supportively behind the woman’s chair. There are no markers of political and religious affiliation: their story is a matter of suggestion and erasure, underpinned by the certain fact of an extra chromosome. In this way, at least, it resembles the story of the condition they are clearly there to prevent.
That condition is Down syndrome, and the product isn’t a pill. It’s Sequenom’s MaterniT21plus, an early-pregnancy test described as “an in-office, noninvasive laboratory-developed test for trisomy 21, 18, and 13.” Perhaps because trisomies 18 and 13 are both rarer and incompatible with long life, only Down syndrome is described below the photograph. It’s a standard description, and it is a more than superficial improvement upon the slanted language, factual errors, and long lists of possible disease features that are fading, but still common, in contemporary descriptions of the condition. In this, the description, like the test itself, is very much of our time: over the past several decades, even as our ability to detect Down syndrome has increased, so has our acceptance of people with the condition, a fact reflected in the way we describe it.
And yet that description, like most descriptions of Down syndrome, has a context and a purpose. As such, it is inflected, ever so lightly, with the negative. The word “risk” (as opposed to, say, the neutral “chance”) appears four times, and in a way which subtly expands the pool of potential consumers: “The risk to have a child with Down syndrome does increase with the mother’s age, but mothers of all ages can have a child with Down syndrome.” “Your doctor may also recommend screening for Down syndrome if you have other risk factors such as a family history of Down syndrome.” The condition being risked, though initially identified as a “variation,” is also associated with “birth defects”; and the sense of risk is amplified by an insistence on randomness: “It is important to know that most cases of Down syndrome are not inherited. In fact, most cases of Down syndrome happen randomly by chance.”
It is, in other words, less a factual document than an act of persuasion. Though it speaks with the bland rhetoric of health and choice, and though it’s subtly done, at root it works the way most advertisements work: it engages our fears, then seeks to allay them. Down syndrome, in the world of the ad, is an abstract world of randomness and risk; MaterniT21plus is the answer.
What, then, is left out?
As ever, the actual lives of people with Down syndrome. It is not reasonable, of course, to ask Sequenom – whose continued profitability depends on the wishes of prospective parents to avoid Down syndrome – to show pictures from the latest Buddy Walk®. However, the likely effect of tests like MaterniT21 is to depopulate the Buddy Walks of the future. This isn’t a matter of evil, or prejudice; it’s just economics, and individual decisions adding up to social change.
It is crucial to note that those individual decisions are not lightly taken. Nor are they as common as is thought. As the writer Amy Julia Becker points out, the frequently-cited statistic that 90% of all fetuses with Down syndrome are aborted is factually incorrect. In fact, around 90% of all fetuses positively diagnosed are aborted – which is to say, women willing to undergo the invasive procedure of amniocentesis, with its small but real risk to the fetus, and to contemplate a second-trimester abortion. And yet the numbers of those with Down syndrome are considerably lower than they would otherwise be.
At present, an estimated 100,000 women a year have prenatal genetic tests. A recent article in Nature reports that the Sequenom test is expected to expand that number as much as thirtyfold – to 3,000,000. It is difficult to imagine that this will not affect the numbers of those with Down syndrome in the world. It is also likely that the widespread use of the test will affect our sense of what Down syndrome is.
For parents, advocates, and people with the condition, Down syndrome is not a mistake or a defect; it is a way of being human. But the very fact of a test, combined with the medical authority behind it, implies a different view. Its focus on whole-chromosome disorders strongly associates Down syndrome with other disorders which are either different, or more severe. More generally, as a prenatal test, it associates Down syndrome with other conditions which can be tested for –which is why, in discussions of prenatal diagnosis and selective abortion, it is common to see Down syndrome lumped in with utterly unlike conditions, including thalassemia, cystic fibrosis, PKU, Tay-Sachs, and Huntington’s disease.
These may seem like specialized concerns: matters for parents of children with Down syndrome like myself, for disability rights activists, and for all those of us miscast as Luddites. In fact, we should all be concerned, because Down syndrome is at the leading edge of prenatal genetic diagnosis – just as it was at the dawn of prenatal (non-genetic) testing. In the age of genomics, whole-chromosome conditions are only the beginning. Our ability to sample fetal DNA from maternal blood means that not only Down syndrome, but before long any condition with a genetic component, any “risk,” can be forecast.
How such advances will affect our understanding of human health remains to be seen, but the questions they raise are far from easy. When everything can be tested for, how will we determine what is pathological, and what is normal? For that matter, what will happen to the troubled idea of “normal” itself? When the interpretive ground is shifting, how will patients interpret complex results? What sense will they make of the avalanche of data, and in a failing health system, who will have the time to help them make that sense? When inheritable conditions are discovered, what obligations, legal and ethical, obtain between the patient, the doctor, and the company selling the test? The presence of difficult questions should not preclude the test’s existence or use: difficult questions are always present. But if the test is to be a genuine benefit to human health, the questions need to be faced.
In its webpage for health professionals, Sequenom describes its product with three adjectives: clear, convenient, compelling. The test is undeniably convenient, and will be compelling for many. Its implications, however, are anything but clear.
George Estreich received his M.F.A. in poetry from Cornell University. His first book, a collection of poems entitled Textbook Illustrations of the Human Body, won the Gorsline Prize from Cloudbank Books. His memoir about raising a daughter with Down syndrome, The Shape of the Eye, was published in SMU Press’ Medical Humanities Series. Praised by Abraham Verghese as “a poignant, beautifully written, and intensely moving memoir,” The Shape of the Eye was awarded the 2012 Oregon Book Award in Creative Nonfiction. Estreich lives in Oregon with his family.
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Posted in Bioethics, Biotech & Pharma, Disability, Eugenics, Genetic Selection, Personal genomics, Reproductive Justice, Health & Rights, Sequencing & Genomics
CommentsAdd a Comment
Comment by index, Jan 23rd, 2014 1:54am
Down syndrome is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier by Jean-Étienne Dominique Esquirol in 1838 and Édouard Séguin in 1844.
Comment by Nick's Mom, Sep 25th, 2012 2:10pm
AS the parent of a son with Down Syndrome, this makes me sick at heart.
Comment by Jen, Sep 24th, 2012 4:46pm
Beautifully written, thank you.