Selling the Story: Down Syndrome, Fetal Gene Testing, and The Today Show

A recent episode of The Today Show, on which I first commented here, profiles an expectant couple, Jason and Robin Vosler, who tell the audience about the results of their prenatal test on air. They explain that their fetus does not have Down syndrome: “We’re safe,” Ms. Vosler said. Host Matt Lauer then reveals to them something they hadn’t known – that their fetus is male.

Though nominally a human interest story, the segment was functionally an infomercial for Sequenom’s MaterniT21Plus, one of the new noninvasive prenatal tests (NIPT) for Down syndrome and other chromosomal conditions. The couple testified to the test’s value, as did NBC’s Chief Medical Editor, the woman’s OB-GYN, and the Chief Medical Officer of Sequenom. No competing test was mentioned, and MaterniT21Plus was compared favorably to invasive diagnostic tests (amniocentesis and chorionic villi sampling).

In my previous blog post, I discussed the conflicted view our society holds of Down syndrome and disability. In this one, I want to consider several key issues: the way NIPT is presented in the diagnostic situation; the way medical authority is used, or misused, to sell the technology to both patients and the public; the question of sex selection; and the challenge of how to respond publicly to these problems.

For years now, parents have advocated for a genuinely balanced approach to the presentation of Down syndrome, whether in prenatal or postnatal contexts. That approach would neither shy away from potential complications, nor frame a child with Down syndrome as an avoidable mistake.

Because there are many families where a child with Down syndrome is welcomed and valued, and because recent research does not bear out the common assumption that such a child harms families and marriages, it is not reasonable to present a negative result as “good news,” or for anyone to assume that, having such a negative result, one is “safe.” Reduced risk and safety are not the same – and of course, to frame a potential child as a “risk” (or, as the voice-over reporter does, as an “abnormality”), is to frame that child in a negative way. A technology of detection carries an obligation to provide accurate and balanced information about the conditions detected. That information should not only be factual and up-to-date, but should also touch on the way the condition actually exists in the world.

It is possible that this sort of information was provided to Ms. Vosler, but it doesn’t seem so. In the interview, Lauer notes that Ms. Vosler will be 35 when her baby is born, and asks, “Is that the reason you decided to have this test, because you’re in this high risk category?”

She replies, “Yes, so at our first doctor’s appointment, our doctor sat us down and told us that we would be considered advanced maternal age at delivery and went over some of the precautionary tests that they want you to take. And checking for Down syndrome is one that they begin at thirty-five.”

High risk, precautionary, checking for. However it was framed to Ms. Vosler, the clear takeaway message she received was to use the test, because Down syndrome is something to avoid.

In a much-blogged-about exchange, Lauer then says, “Let’s get to the good news,” and asks Ms. Vosler the results of the test. She replies that the test was negative, and that the family is “safe.”

The mom goes on to assert that the test looks for "three different kinds of Down syndrome." This is false. The test looks for three different trisomies – trisomy 21, trisomy 18, and trisomy 13 – whose effects, as I've pointed out in a previous blog post, are radically different. People with trisomy 21, or Down syndrome, havea life expectancy of around 60 years; for babies born with the other trisomies, life expectancy is less than a year. People with Down syndrome attend school, and many live independently. From a functional, real-world perspective, in other words, the three conditions are not alike at all.

To blur these conditions together is clinically misleading, but it’s advantageous for Sequenom. It's in the nature of the test to catch all three conditions: from a company's point of view, if you can advertise detection of three things, not just one, then you have provided prospective customers with a better reason to spend their money. (That's why the test is called "MaterniT21 Plus": the "plus" includes the extra trisomies. Other companies, vying for market share, highlight the ability to catch other disorders.)

In the Today episode, Lauer next turns to Nancy Snyderman, the Chief Medical Editor for NBC News. I had hoped that, given her expertise, she would provide a more nuanced view of the conditions detected by the test. Instead, she offers a positive view of the new product, and an implicit distortion of Down syndrome's seriousness.

Lauer, after emphasizing that amnio poses a danger of miscarriage – to which Snyderman says, shaking her head regretfully, "it does" – asks Snyderman, "Are you in favor of this [test]?"Snyderman replies quickly, "It's not that I'm in favor of this, it's that this is the next scientific step. It was going to happen."

Snyderman’s implicit avowal of objectivity aside, her words are far from neutral. In context, to say that something is “scientific” is a powerful and misleading argument. NIPT is significant not as science, but as technology. The existence of cell-free DNA has been known about for years; what’s new here is more accurate, for-profit detection. (As I noted in a previous article, that accuracy is still being oversold. Contra the implication of the Today segment, MaterniT21 and its competitors are not yet a replacement for amnio and CVS: amnio and CVS are still the diagnostic standard, which is why the new tests are NIPT, not NIPD.)

Those important caveats apart, I think Snyderman's right about the next step in prenatal diagnosis. The new tests are rapidly increasing in accuracy, and their absence of risk will almost certainly lead to widespread adoption. But in the context of a pro-Sequenom human interest story, to say so isn’t fact or prediction; it’s part of the pitch. To say that a new technology is inevitable, because it's progress, is a deft approach to persuasion. If your audience accepts this contention, then there is no debate. Of course, to say that something is inevitable leaves out the point that as members of a deliberative democracy, we can decide whether to adopt new advances.

In her discussion of the test, Snyderman continues, "It's not just the gender issue. We want to rule out some problems that are incompatible with life, and yes, we want to know about Down syndrome."

Technically, if you replay the sentence, and if you are willing to be a very generous and informed listener, you can grant to Snyderman that she may have meant that the "problems...incompatible with life" were trisomy 13 and trisomy 18, and Down syndrome is not one of those. I think that for the vast majority of The Today Show's five-million-plus viewers, this distinction will be lost. I don’t think Snyderman believes, as the mom does, that the test discovers "three different kinds of Down syndrome," but she might as well: Down syndrome, if not technically being named as a "problem incompatible with life," is being lumped in with conditions that are.

The “gender issue,” as Snyderman calls it, interests me because it illustrates how the technology – rather than being neutral – is actually driving the conversation. At present NIPT can only discover whole-chromosome facts about the fetus. But even this power leads to incredible complexity. Down syndrome, Patau syndrome, and gender are very different chromosomal conditions (to say the least). Beyond The Today Show's rough arithmetic (a syndrome is a matter of health, and gender is a matter of humanity) is a complex world of human value – and the possibility of mass effects through widespread use.

As the web version of the story states,“the new test gave [the Voslers] good news on two fronts”: they also learn the child’s gender. It’s troubling to see the “good” news of a fetus not having Down syndrome linked to the “good” news of that fetus being male, because whether these are “good” are not only matters of biology, but matters of value. It’s also an unintentionally revealing link, in light of the gender imbalance that results in some countries where parents use prenatal ultrasound testing to select for boys. As Mara Hvistendahl pointed out in Slate, the widespread adoption of NIPT is likely to skew sex ratios even further. In contemplating the story of an individual couple, we forget the complexities of population-level effects.

But The Today Show is all about feeling good in the morning, and not about thorny, dystopic questions. Maybe it’s just me, but watching the clip didn’t make me feel good. In fact, I felt like weeping for our civilization. The Voslers, on live TV, are handed a white box held shut with green and gold ribbon. They untie it, finding a pile of boy-themed infant swag. The dad, until then silent but smiling nervously, pumps his fist and says “Yes!” The mom is more measured, but asserts that she’s “definitely” happy.

It’s a strange ritual: the white box as proxy womb, the future child transmuted into gendered gifts, a ritual of forecast and offering, birth and consumption, and cheerfully surrendered privacy. In a world of targeted distractions, this one is near genius: it translates a new, unfamiliar technology to a human scale, and renders it in familiar terms. Nice people, opening a gift.

It’s a persuasive scenario, and it has several key features worth noting. First, it humanizes the technology, translating it into a familiar, easy-to-imagine interaction. Second, that interaction is emotionally charged: health, family, and a future child are all at stake. Third, it abstracts that interaction from social context: it occurs, as it were, on an empty stage. It has a story’s emotional resonance, without the emotional complexity– and in a world where we are all struggling to make sense of new technologies, that very simplicity has its own appeal.

Which raises the question of how to respond. How should one answer, given the power and resources of those spreading the message?

As a writer and the father of a child with Down syndrome, the question interests me a great deal. Having written about this issue recently for The New York Times, I’m hopeful. In that piece, I wrote about the need to get beyond a split view of disability – either sentimentally for, or clinically against – to a view that honors full citizenship and complexity and individuality. In the reactions to the Times piece, I found not only a great deal of agreement across the political spectrum, but also a hunger to get beyond superficial portrayals.

Meanwhile, our news moves from moment to moment, like a toddler with exceptional speaking skills. This week, Down syndrome was featured on The Today Show yet again: the Ideal School, a private school in New York City, is educating students in mixed classrooms, some with disabilities, some without. When I saw the link, I felt as if I were caught in a media loop – call it Groundhog Today – or at least playing a new drinking game. (One shot if The Today Show portrays Down syndrome as a risk to the American family, and two shots if a person with the condition is shown in a positive way!) But I have decided that even if The Today Show continues to feature Down syndrome every single week this year, if we alternate from institutions to inclusive schools, friendless orphans to working actors, ruined families to proud parents, I will think and write about other things, just to stay moderately sane.

Even the positive stories leave a strange aftertaste. I loved hearing about students of all abilities reading Beowulf at different levels, but was troubled to read that ability affects tuition: $34,000 for typically developing students, $55,000 if you have “special needs.” And although the parents who started the school deserve full credit for their ambition and hard work, I wish the segment had not presented the Ideal School as if it were the world’s first instance of educational inclusion.

Still, the classrooms looked bright and welcoming, the teachers enthusiastic, the students happy. One student – Max, who has Down syndrome – was shown saying that “D” stands for “democracy.” The reporter, Alex Wagner, was clearly moved by her visit to the school; as she chats with Carl Quintanilla, the studio host, you can tell her enthusiasm is genuine. Near the end of the studio segment, Quintanilla asks her, “Any concern that if your kid is, say, gifted and talented, that they’re slowed down in some way in this classroom?”

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:

• Anatomy of a Webpage, Part 3: Selling “Peace of Mind”
• Anatomy of a Webpage, Part 2: Preconception Services
• Anatomy of a Webpage: Marketing Fetal Gene Tests and Sequenom’s MaterniT21