One of the many mini-scandals in the recent Presidential election erupted when Ann Coulter tweeted a reference to President Obama as a “retard.” As the father of a sixth grader with Down syndrome, I found the tweet simultaneously sickening and reassuring. Sickening, because of the ubiquity of the word; reassuring, because of the pushback. Coulter clearly assumed that her use of the word would be shocking enough to generate attention, but not shocking enough to incur any cost. She was clearly wrong.
On disability as on many other issues, our mores are changing with unbelievable speed. What was acceptable last year is less so this year, and taboo next year. Most heartening of all after Coulter’s blunder was the public reply made by John Franklin Stephens:
I’m a 30 year old man with Down syndrome who has struggled with the public’s perception that an intellectual disability means that I am dumb and shallow. I am not either of those things, but I do process information more slowly than the rest of you. In fact it has taken me all day to figure out how to respond to your use of the R-word last night…
Well, Ms. Coulter, you, and society, need to learn that being compared to people like me should be considered a badge of honor.
No one overcomes more than we do and still loves life so much.
Come join us someday at Special Olympics. See if you can walk away with your heart unchanged.
A friend you haven’t made yet,In a world where people with disabilities have made such strides, what are we to make of the spate of new prenatal tests that claim to identify fetuses with chromosomal conditions early in pregnancy? There is no easy answer, but it is hard to deny the tension between their implicit message and the one delivered by Mr. Stephens.
John Franklin Stephens
Selling at Sequenom
One of these tests is made and marketed by a company called Sequenom.
In 2009, Sequenom, then at work on SequreDX, an early version of its current prenatal test for Down syndrome, fired its CEO and its senior vice president of research and development. An internal investigation had revealed that data had been “mishandled,” and that the test was not nearly as accurate as claimed. A subsequent SEC investigation discovered that investors had been misled, not only about the test’s accuracy, but also about the conduct of the research on it: The sample sizes were smaller than claimed, and the tests were not “blinded” – that is, the scientists knew which sample was which. According to the SEC report, “On a blinded basis, the Test results included multiple false positive and false negative results.”
As with numerous other commercial ventures, the race to capture a large market had put reliable data at risk. Since Sequenom and its competitors are selling peace of mind, and since achieving it depends on certainty, it is understandable if deplorable that Sequenom would exaggerate the accuracy of its test to investors.
That was a short-term strategy, and not a particularly good one. The main selling point of the new fetal gene tests is that they come very close to amniocentesis in accuracy, without risking miscarriage and with a simple blood draw instead of an invasive procedure. If they don’t work as well as amnio, then they’re not “clear, convenient, and compelling,” to use Sequenom’s buzzwords, and misrepresentations of said test will be punished not only by the SEC, but by the investors hearing the pitch. (Sequenom’s stock price tanked in the wake of the revelations.)
Subsequent research on newer prenatal tests appears to be more reliable. Assuming that the tests from Sequenom and its competitors are now as accurate as advertised, let’s turn to a grayer, less regulated area: the way those tests are marketed to consumers. Though each company has a different strategy, their appeal boils down to a single idea: peace of mind, which, it is implied, only one product will provide. The choice of that product is linked to deeply felt assumptions about medical authority, normality, and health, as well as to deep desires for a bright future and a happy family.
This goal not only shapes the portrait of the condition being avoided, as we’ve already seen: it shapes the presentation of scientific data. Just as the portrait of Down syndrome is subtly shaded with risk, so the portrait of the test is subtly slanted towards the positive. To see how these two strategies go hand in hand, let’s take a look at a webpage from Ariosa Diagnostics.
Persuasion at Ariosa
Unlike Sequenom, Ariosa Diagnostics pitches its test to women. It is difficult to find images of men on Ariosa’s website: where Sequenom shows a couple awaiting test results, Ariosa shows a woman chatting with a doctor (also a woman). And against Sequenom’s more traditional image of family, the Lands’ End-clad couple leaning forward for news, Ariosa shows three generations of women. In the picture’s center is a photogenic young mom in sweats, her kindergarten-aged, pigtailed daughter gazing into her eyes; in the background is a trim, hale grandmother with short hair, who almost certainly shops at REI. Elsewhere on the website, we see three women of differing skin tones, holding their bellies protectively; their heads are cropped out of the photo. Another image shows an African American woman, relaxing on a couch in sunlight, an open laptop propped against her belly: a frieze of pregnancy, technology, and contented anticipation.
Like the images, the written pitch presents an uneasy hybrid of Scientific Authority and Just Us Girls. It merits a closer look:
As an expectant mother, you have probably been overwhelmed with information about what you should do during your pregnancy. And more than likely, you’ve considered prenatal testing.This is a brief, deftly written paragraph. It offers sympathy, while separating Ariosa's information from the “overwhelming” kind, then pivots to the choice. It's those other companies overwhelming you: Ariosa Diagnostics wants to help. And by the way, since we're helping, here's some information. Don’t be overwhelmed!
According to the American Congress of Obstetricians and Gynecologists (ACOG), all pregnant women should be offered prenatal testing for chromosomal abnormalities.Every website for a fetal gene test cites ACOG's recommendations, a testament to the persuasive power of medical authority. If something is medically recommended, it is a simple matter of health, and not a value-laden choice. What follows is instructive, in every sense: it tells the consumer about prenatal testing, and instructs her in how to act.
Prenatal testing is part of almost every pregnancy. Your doctor can provide you information about trisomy prenatal testing, including why it’s done, what tests are available, what they are for, and when you should get them.Brief as it is, this passage is loaded with contradiction. It emphasizes the prospective mother’s choice, while telling her what to do. It asserts what is technically correct – that “[p]renatal testing is part of almost every pregnancy” – while omitting the fact that this kind of testing is very new, and that few women currently seek out testing with this level of certainty. Finally, it blurs the meaning of the word “information.” In the paragraph above, “what tests are available” and “what they are for” certainly count as “information”: those are unambiguously factual. However, the question of why that test is done is deeply value-laden, and the question of when the test is performed enacts a subtle shift. For many women, the question is whether, not when, but this passage assumes a decision has already been made. As such, it quietly completes the beginning of the pitch: “More than likely, you’ve considered prenatal testing.” In a few brief paragraphs, this webpage walks the consumer from uncertainty, to medical consult, to completed decision. It instructs the consumer in how to behave.
The choice is yours. So learn all you can about the tests available to you, and if you have questions, discuss them with your healthcare provider.
There are two problems with the way persuasion tends to work in marketing fetal gene tests, and both are at odds with the way good medicine is practiced. The first problem is that the persuasion is covert. Although it appears to be open and informative, it is composed of subtle appeals, of highlighted risks and implied reassurances. As such, it differs significantly from the communication we would want from a medical professional, which should be open and neutral, not coded and biased. The second problem is the very existence of persuasion, which is, by definition, directive. As such, it conflicts with the injunction for genetic counselors to be nondirective.
It could be argued that Ariosa Diagnostics, like any company investing significant effort and expense in a new product, has a right to advertise that product. They do, but that’s precisely the point. Their primary goal is to make money, and that goal shapes their presentation of the test, the condition it tests for, and the way the supporting data is presented.
Syndromes and Understanding
Ariosa’s website provides prominent links to parents’ organizations for trisomy 21, 13, and 18, including the National Down Syndrome Society. Full credit to Ariosa Diagnostics: they send you right to the NDSS, which not only presents accurate medical information, but presents it in the context of human beings with stories. Unlike Natera, which announces an intention to combat “genetic disease,” Ariosa, at least in its links, takes seriously the idea that people can be more than their syndromes.
However, Ariosa’s own account of those syndromes sends a much different – and more typical – message:
Trisomy 21 is due to an extra copy of chromosome 21 and is the most common trisomy at the time of birth. Trisomy 21 causes Down syndrome, which is associated with mild to moderate intellectual disabilities and may also lead to digestive issues and congenital heart defects. It is estimated that trisomy 21 is present in one out of every 740 newborns.Everything about these descriptions – the boilerplate parallelism, the graphics – suggests similarity. And a key selling point of the test is that it detects three chromosomal syndromes. But these conditions are radically different. Not only are the second two far less probable, they are also far more severe. Expected life spans are only offered for trisomy 18 and trisomy 13. For people with trisomy 21, the current average lifespan is around sixty, but this number is left out.
Trisomy 18 is due to an extra copy of chromosome 18. Trisomy 18 causes Edwards syndrome and is associated with a high rate of miscarriage. Infants born with trisomy 18 often have congenital heart defects as well as various other medical conditions, shortening their lifespan. It is estimated that trisomy 18 is present in approximately one out of every 5,000 newborns.
Trisomy 13 is due to an extra copy of chromosome 13. Trisomy 13 causes Patau Syndrome and is associated with a high rate of miscarriage. Infants born with trisomy 13 usually have severe congenital heart defects and other medical conditions. Survival beyond the first year is rare. It is estimated that trisomy 13 is present in approximately one out of every 16,000 newborns.
While the conditions tested for are shaded with the negative, the presentation of the product accentuates the positive. That presentation takes the form of a horizontal bar graph, which illustrates detection rates for each syndrome. However, the tidy appearance of the graph obscures some odd inconsistencies.
For starters, there are three conditions (trisomies 21, 18, and 13), and only two bars. The two bars, for trisomy 21 and trisomy 18, showcase relatively good results. In bold print, to the right of each bar, we see the percentage of fetuses identified. For Down syndrome (trisomy 21), it’s >99%. For Edwards syndrome (trisomy 18), it’s >98%. For Patau syndrome (trisomy 13), however, there’s no bar – only an asterisk, and the note “8 out of 10 detected with Harmony.”
The whole point of a bar graph is to compare results. To be consistent, the bar for trisomy 13 would have to be present, and there’d need to be a number in bold: >80%. But this would graphically undercut the purple headline underneath the bar graph: “Dependable accuracy as early as 10 weeks gestation.”According to Ariosa’s own data, Harmony appears to be a very dependable screening test for trisomy 21 and trisomy 18, and a less than dependable screening test for trisomy 13 – which, according to Ariosa’s description, is the most severe of the three. (“Survival beyond the first year is rare.”)
The more you look at the graph, the more confusing it gets. For every condition, the low false positive is not only in bold print, but highlighted in orange: <0.1%. However, the false negative, in which an existing trisomy is missed, is presented inconsistently. For Down syndrome, the boldface and fine print agree: >99%, for 214 out of 214 detected. For the remaining trisomies, though, the bold and fine have different emphases. In the case of trisomy 18, >98% is more prominent than “103 out of 105.” For trisomy 13, as mentioned above, no percentage is offered, and the “8 out of 10” figure is more prominent. This overall presentation is confusing, and at odds with what the consumer might hope for, if she followed the recommendation to visit her doctor: something neutral, consistent, and clear.
For the consumer, though, the more you look at Ariosa’s promotional literature, the fuzzier the picture gets. Ariosa’s brochure for the Harmony test, available in pdf on their website, presents the test’s numbers with a small but crucial difference:
The Harmony Test has been shown to have detection rates of up to 99% and false positive rates as low as 0.1% for trisomy 21, 18 and 13 [emphasis mine].It’s not clear how this statement aligns with the bar graph. For a prospective consumer of the test, as low as 0.1% is very different from less than 0.1%. Ditto for detection rates of up to 99%.
Which leads to a crucial point for the Harmony Prenatal Test, as well as its competitors: it is not a replacement for amnio. It is an accurate screening test, but Ariosa’s brochure is careful to say that the Harmony Prenatal Test will either have a “Low Risk Result” or a “High Risk Result.” In the case of the latter, “your healthcare provider may offer genetic counseling and/or diagnostic testing to determine if your baby is affected.” That diagnostic testing would be the more invasive procedures—amnio, or CVS—which many seek to avoid in the first place.
This is true of Sequenom’s test as well. A New York Times article clarifies the purpose of that test, and quotes Dr. Jacob Canick, the senior author of a study establishing the test’s accuracy at 98.6%:
Sequenom said the test was meant for the 750,000 women a year in the United States who are deemed to be at high risk after initial screening. Women who test negative on the new test may feel comfortable skipping the invasive procedure, researchers said.
However, women who test positive would still be advised to undergo the more definitive invasive tests before terminating a pregnancy. “We don’t feel it’s appropriate to act or make decisions” based solely on the Sequenom test, Dr. Canick said.
In other words, the Sequenom test does not necessarily simplify. It adds another test, which means that a consumer would have first an approximate screening test, then a more accurate screening, and then, if they wished for the most certainty possible, an invasive diagnostic test.
Beyond the images, beneath the numbers
Beyond the reassuring pastels and bar graphs are troubling questions. Which, for example, is worse: to abort a healthy fetus based on a false positive, or to have an affected fetus based on a false negative? In the case of Down syndrome, whose central feature is intellectual disability: is it less healthy to be less smart? Beneath the numbers are questions of value, and yet those questions are obscured.
This is the kind of thing that tends to reduce my own peace of mind. It’s not that I think these tests shouldn’t exist, or that women shouldn’t have access to them – or the abortion they might lead to. It’s more that in the process of selling the tests, the companies distort or obscure the lives of those with the conditions tested for. As a result, the values they project are at odds with the values I, like many across the political spectrum, have come to hold: that, for example, true peace of mind comes from accepting a child for who she is. That we should lower the wall between “abnormal” and “normal,” not raise and reinforce it. That disability should be represented accurately and fully, that we shouldn’t take the disability for the person, and that we should listen to the way persons with disabilities represent themselves.
Down syndrome is once again at the leading edge of a revolution in medical genetics. It is the central target of the new fetal tests, but it is only the first: if we can sample and amplify fetal DNA from a mother’s blood, then we can, in theory, detect any condition with a genetic component. Where, then, will we place the dividing line between health and human diversity? When children are being chosen, what will be the terms of the choice? Because of the technology’s power, we will need to think carefully about this. Our preferences are fleeting, changing from year to year: not that long ago, homosexuality was classified as a disease, and not that long before that, epilepsy was grounds for legal sterilization.
As the Coulter flap reveals, we are likely in the midst of a similar sea change in how people with intellectual disabilities are seen: The very idea of a coherent, gracious, informed political opinion, coming from a man with Down syndrome, would likely have been laughed at when Mr. Stephens was born. It is fair to say, then, that if our values are changing, we should be wary of writing them into the population.
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.
Previously on Biopolitical Times:
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