Deletions of Concern: Noninvasive Prenatal Screening and Disability, Part Two

^{Photo by Pawel Czerwinski on Unsplash}

Read Part One of Deletions of Concern

I first wrote about the advertising for non-invasive prenatal screening tests (NIPS) back in 2012 (1, 2, 3), when they were just being introduced. At that time, the websites of companies like Natera and Sequenom were detailed and lavish, filled with images of model-perfect pregnant women with loving (male) partners in palatial homes. An aspirational vision of home in America, and one entirely free of disability. The bold print read simple, clear, accurate, quality of science, results you can trust. As the recent New York Times investigation of NIPS performance and claims showed, that language is still common. But the online ads are fewer now, less prominent, less elaborate. 

I was puzzled by this at first, but I soon realized the reason: the ads have succeeded, so they are less necessary. The tests are familiar and routinely offered, so advertising is less urgent. In fact, I’ve come to think that the ads have always sought their own erasure. On an individual level, they were meant to influence behavior, to dissolve into decision. On a societal level, I think that the goal was always for the marketing to dissolve into routinization. 

This is not to say that the marketing has disappeared; it has simply changed. What I did not fully grasp early on is that the companies were always doing more than appealing to providers and prospective mothers. They were creating and funding a marketing ecosystem, in which the lines between health care providers, patients, and marketing are blurred. Patients and providers are the targets of marketing, but they also help market the tests to others. The President-elect of the American College of Medical Genetics writes a rebuttal letter to the New York Times. Genetic counselors attack the article on Twitter. Advocacy groups, sponsored by the industry, repeat industry talking points and advocate for industry goals, like insurance coverage for tests. Prospective moms praise the tests by name on Pinterest, Instagram, BabyCenter, personal blogs. People’s reasons for speaking up vary widely, and to think about individual motives is the wrong level of magnification anyway. The point is that in a marketing ecosystem, individual actions serve corporate ends. 

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Take, for example, the link between NIPS and gender reveal parties. NIPS can be done early and is accurate for fetal sex; as the Washington Post reported in 2019, many women—including younger women unconcerned about age-related anomalies—are using the test for this purpose alone. Testing for fetal sex, in other words, helps expand the NIPS market beyond the 35-and-over customer base. (As genetic counselor Katie Stoll points out in an excellent blog post, this is also true of the microdeletion screen: unlike Down syndrome, microdeletions are not linked to maternal age.) Here, too, centering NIPS as a product shows the marketing ecosystem at work, while raising questions about the technology’s real effects in the world. 

NIPS has been marketed for discovering fetal sex almost since its inception. In 2013, the Today Show ran a segment—an infomercial, in all but name—featuring a couple who’d used  MaterniT21Plus. Having already discovered that their fetus was unaffected by Down syndrome, they then learned the fetus’ sex live, on air, by unwrapping a box that contained blue baby clothes and toys. I later wrote,

In the online version of the story, the test results are described as “good news on two fronts.” 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...

In the Today show’s rough arithmetic, a syndrome is a matter of health, and gender is a matter of humanity. One is bad news, the other good. As it happens, the test can also detect conditions with atypical numbers of sex chromosomes...In other words, the test marks deviations from typical gender while being associated, for profit, with an example of a committed heterosexual couple, welcoming a normal baby boy.

Like Sequenom (then the company behind MaterniT21Plus), Natera, the maker of the Panorama test, has made gender reveal tests a selling point. They’ve done so by sponsoring a number of blogs, which in turn recommend Panorama by name. (A quick search found six of these.) One included a professionally produced graphic from Natera, entitled “Think Outside the Bump: Three Unique Photo Ideas to Announce Your Pregnancy on Social Media.” For example:

CONFETTI CLUE
Balloons have traditionally been used for “About to Pop!” mommy metaphors. Take yours a step further and fill a black balloon with either pink or blue confetti and give it a poke right before your timer is set to shoot!

You can find the graphic on Pinterest, on Natera Genetics’ Pregnancy Reveal Page. The nudge to go on social media is telling: personal testimonials are valuable in a way a professionally produced ad can never be, and online testimonials help embed the Panorama test, organically, in the attention economy. 

If you’re only looking at the bottom line, prenatal gender reveal is simply another way to monetize a test. But if you widen your focus to social effects, you have to consider the bodily norms, in gender and ability, embodied in the tests’ marketing. Natera’s graphics, and its sponsorship of blogs announcing gender reveal parties, support the strict stereotypical binary characteristic of the parties: blue or pink, boots or bows, pistols or pearls. That’s problematic for people who fall outside that binary, or who strain at its rigid boundaries and discriminatory effects. In the same way, tests that divide normal from abnormal—and whose marketing overwhelmingly portrays disability as a set of risks to normal families—are problematic for many people living with testable conditions, and for their families.

On Twitter, a clinical geneticist responded angrily to the New York Times article, saying NIPS has “revolutionized our ability to screen for devastating disorders.” But this statement is troubling on its face, not only because the test tends to do poorly for the most devastating disorders, but also because the conditions vary. Some are mild, with long lifespans; some are incompatible with life; most are variable. Some are not health-related at all. The tweet does, however, raise an important set of questions: What counts as “devastating”? “Devastating” to whom, and why?

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In March of last year, I appeared on a Zoom panel with Alice Wexler, the writer and historian. Alice is the sister of Nancy Wexler, who led the team that discovered the gene for Huntington’s disease. 

Like Tay-Sachs, Huntington’s is, by any standard, a terrible disease. It is inherited, unlike the conditions tested for by NIPS, and it is “autosomal dominant,” which means that children who inherit a defective gene from either parent will get the disease. It strikes in midlife. It begins with loss of bodily control, alters personality and cognition, and is eventually fatal. There is no cure. 

No one is “for” Huntington’s. People with the disease, family members, researchers, and clinicians all agree that it would be better if it did not exist. And yet even so, the issues of testing are complex. If your parent is a carrier, or is affected, do you choose to test, and then know your fate? If so, at what age? Or do you wait and see if symptoms appear? Moreover, even when the diagnosis means a 100% chance of the disease developing, that certainty gives way to new uncertainties: the time of onset is unpredictable, and social factors—the presence of community support, the quality of medical care—make an enormous difference in the affected person’s experience. Tests give answers, but the answers lead to multiplying questions. What I learned, listening to Alice, was that even the most cut-and-dried conditions lead to unending complexities.

I bring this up because, in the comments and tweets responding to the Times article, the disorders tested for were usually assumed to be unequivocally bad. There were rare exceptions, but the badness of the conditions was either emphasized (Down syndrome framed as a “tragedy,” for instance), or, more often, simply assumed. 

To be sure, some of the microdeletions are “devastating” by any measure. But it was extraordinarily rare for commenters to distinguish among levels of severity, to note the difference between a condition incompatible with life and a condition, like Down syndrome, with a current life expectancy of 60. This demonstrates a subtle effect of tests that screen for multiple conditions: they tend to collapse various conditions together under the umbrella of abnormality. 

“Normal” is a slippery concept. In the comments following the Times article, it tended not to be invoked directly; instead, it was embedded in story. Likely because the article flagged problems with prenatal tests, many people chimed in with their own experiences (many of which referred to earlier forms of prenatal screening, and had nothing to do with NIPS for microdeletions). Their stories often took a particular form: I had prenatal testing; bad things were forecast; the test was wrong, and my child is thriving. 

These accounts interested me not because they revealed something about microdeletion screening in particular (they didn’t), but because they revealed something about what people want from prenatal testing. Again and again, it was not only health that was emphasized, but intelligence. The words healthy and smart or bright tended to co-occur. (You can, for the record, be intellectually disabled and healthy.) Others insisted on achievement:  

We chose not to do the risky amniocentesis, and our son graduated from Harvard.

One mother, whose doctor had misdiagnosed her fetus with neurofibromatosis (again, this had nothing to do with NIPS), wrote of her son,

. . .he did well ALL THROUGH school (in 3d grade, at my meeting with the teacher) we were told that he had the English Usage and Expression skills of someone post-high school. He went on to The University of Chicago and has a Juris Doctorate from Berkeley Law.

Another spoke to the agony of receiving a false positive, while at the same time framing “Down’s syndrome” [sic] as an unmitigated tragedy for family and siblings:

No amount of "number crunching" (read: statistics) excuses the torture of a woman who receives a casual phone call late on a Friday evening, "Oh, and by the way, your baby tests positive for Down's syndrome." Now explain that to your husband, to your parents, and above all to your older child who will inherit a sibling with intense needs for the rest of his/her life. People are not numbers, and this is inhumane. (P.S. She's thirty one now, and a Summa cum Laude graduate of a seven sisters' school.)

To me, this comment displays the complexity of the conversation. One can both sympathize with the distress caused by a false positive, while asking where that distress comes from. If the news feels like “torture,” if sharing the news with others is a horrific prospect, to what extent is that reaction fueled by misconceptions about the condition in question? 

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Every fall, I speak to first-year medical students at Oregon Health and Science University about Down syndrome. The idea is to teach them, as future medical practitioners, about Down syndrome across the lifespan. I talk a little bit about my experiences. I challenge them, as people who are (by any definition) intellectually gifted, to think about what it would mean to honor the full humanity of patients who are intellectually disabled. 

In the last few years, Laura has been an invited speaker too. She speaks from notes, sometimes off the cuff. I think that her advocacy is far more powerful than mine. It’s good to be in a space where she is honored as an expert, where her voice is heard, where she is taken seriously for what she has to say. I’m heartened by the med students, who are wonderful. And I’m grateful, every year, that the educators and physicians at OHSU make the event (lately, on Zoom) a priority. 

That conversation is part of medicine. The online conversation about NIPS is another part. I don’t know how to fit those two conversations together; I never have. Medicine itself includes a hopeful and a tragic view of my daughter’s condition. I don’t have an answer to this contradiction; I think that the complexities will always be negotiated, and that the answers will never be simple. In the meantime I hope for a world where, in the words of the late disability activist Marsha Saxton, “everyone is welcome.” 

It is possible to imagine a society in which an early, accurate test for Down syndrome is not described as a “holy grail.” It is possible to at least imagine a society whose priorities are different, where the flourishing of the real variety of bodies and minds is a primary goal, and testing and prevention are secondary. A society with a healthier set of relations between technology, profit, and people.

Even absent marketing, a prenatal test frames people with genetically based disabilities in problematic ways. It focuses on the genetic essence, not the lived life. It emphasizes a medical frame, abnormality, defect. It emphasizes diagnosis over individuality. It de-emphasizes the fact that the experience of a condition depends on context, from laws to insurance to the presence or absence of welcome. Disability is not merely a physical or genetic fact. It occurs at the interface of the body and the world. 

What, then, is an alternate frame? In narrative terms, what other story might we tell about disability, technology, and people?

There is no one story to tell, because there’s extraordinary variation in conditions that can be tested for—and, of course, there is variation within those conditions too. This is particularly true for Down syndrome. Over years watching Laura grow up, thinking and talking about her condition, I have become less willing to generalize. I would rather try to make room for her in the world. 

That means questioning the received categories that haunt us—normal/abnormal, able/disabled. It also means understanding that for Laura’s happiness, the main issue is not chromosomal; it is the way the world understands and accommodates her, or fails to. By extension, that means that her future is linked to the futures of others who are marginalized and categorically dismissed for other reasons. Ultimately I go along with Alison Kafer (author of Feminist, Queer, Crip), who asserts that disability is not only a matter of the body; it's a political and social identity. “In imagining more accessible futures,” Kafer writes, “I am yearning for an elsewhere—and, perhaps, an “elsewhen”—in which disability is understood otherwise: as political, as valuable, as integral.”

George Estreich is the award-winning author of The Shape of the Eye: A Memoir, a meditation on the differences that matter, the ones that don’t, and what it means to belong; and of Fables and Futures: Biotechnology, Disability, and the Stories We Tell Ourselves, reflections about the rise of innovations in human biotechnologies, from non-invasive prenatal testing to heritable genome editing.