Since I started researching and writing about the new fetal gene tests that can detect Down syndrome and other disorders from a maternal blood sample early in pregnancy, the ads for Sequenom's MaterniT21 have been appearing regularly on my computer screen. Whatever you think about Sequenom, they have their online marketing together.
I'm writing about the new fetal gene tests not because I oppose them in some blanket way, but because I think that a robust conversation is necessary if our medical advances are to help us. In that conversation, we need to talk not only in narrow terms about the relative efficacy of these tests, but about the assumptions and wishes to which they appeal, the vision of health they present, and the broader social consequences of that vision.
And because the tests in question are products, it’s worth looking at the way these products are sold. The companies know this: their websites are slick, expensive-looking, carefully worded. These are acts of persuasion, subordinate to the goal of making a profit; and whether we like it or not, they are a part of our society's conversation about biomedicine, not outside it.
So in the spirit of continuing that conversation, I'll begin with a response to my last post, where I took issue with the idea that "90% of all fetuses with Down syndrome are aborted." I wrote that in fact 90% of all fetuses positively diagnosed are aborted. However, as I was quickly informed, even in the case of a positive diagnosis, the number of terminations ranges widely, from 50 to 90%, depending on the sample. These points were offered as part of a spirited Facebook discussion among bloggers, and though I (weakly) protested that the 50-to-90-percent thing was actually a figure I linked to, I accept the correction.
The numbers matter not only for the obvious reason that our deliberations should be based on the best data available, but also because they suggest the complexity of the situation. The 90% figure – whether claimed for all fetuses, or all fetuses diagnosed – implies a solid consensus, a slam dunk, almost like a recommendation. 67% is something else: it suggests a process of deliberation (as does the widespread refusal of amniocentesis, which only 2% of women currently use). By extension, it also suggests that a test may not automatically result in “peace of mind.”
It’s also important to realize that not all prenatally identifiable conditions are the same, and that prospective parents do not react the same way. These are not merely decisions about biology, but about values. So with Tay-Sachs disease, for example, there is far greater agreement among prospective parents about the need for prenatal testing and selective abortion.
This is unsurprising: Tay-Sachs is not only invariably fatal and incompatible with long life, but it is inheritable within a relatively small community. That means that there is likely to be shared experience of the disease, and an awareness of its possibility. Down syndrome, however, except in the very rare case of translocation trisomy 21, is not inheritable: it occurs at random. Therefore, it is far less likely that a prospective parent will have direct knowledge of Down syndrome.
What, then, will fill the gap? To ask the larger question: How will the conditions we seek to prevent be portrayed? And, as a corollary: How will the need to sell a product shape the portrait?
Sequenom has three competitors: Verinata, Ariosa Diagnostics, and Natera. Sequenom is suing these three companies for patent infringement, and the three are suing Sequenom back. Perhaps for this reason, the companies are at pains to emphasize their differences, not only in the look of their sites, but in the services and tests they provide.
In fact, all the websites share an aesthetic you could call "sunlit clinical": lots of white, lots of hope. But the differences are significant. The home page for Verinata's test, Verifi, prominently foregrounds a test for Monosomy X, or Turner Syndrome. Ariosa Diagnostics' Harmony, like Sequenom's MaterniT21plus, is focused on detecting fetal trisomy; unlike Sequenom's test, though, the pitch for Harmony emphasizes the rarer and far severer trisomies 13 and 18.
Unlike any of the others, Natera’s website is heavily focused on the IVF market. Natera emphasizes the ability to screen embryos prior to implantation; though they have a whole-chromosome test (PreNATUS) based on a maternal blood draw, it is still in clinical trials. What Natera can give you from that blood draw, however, is paternity testing, a practice which throws a curious light on the brand name of their proprietary technology: Parental Support.
In one way, Natera is behind the curve: their test for whole-chromosome variations is still in clinical trials. In another way, they are beyond the cutting edge. Detecting whole-chromosome disorders is a small part of what they do; they cast a far wider net, screening for a wide range of diseases and conditions.
In my opinion, Natera is still sorting out their messaging. The home page banner features a sun rising over a field of flowers. When you look closer, the sun is actually a clump of cells. In the sky is the company’s motto: Conceive. Deliver. It sounds almost military, as does the company’s former name, the Gene Security Network. It is also more than a little bizarre: the corporal actions of conception and delivery are merged with the corporate actions of research and testing.
From Gene Security Network to Natera may be the most extreme name change in the history of American corporate governance: what used to sound like a shadow organization in one of the Bourne movies now sounds like a shampoo.
Natera’s home page features an explanation of the name change: “The name Natera is drawn from the terms: natal, nature, and earth. Our new name better reflects our mission to help couples around the world manage pregnancies and reduce the risk of genetic disease.”
Speaking purely for myself, the name and its explanation are deeply troubling. As a matter of medicine, not all the targets of Natera’s testing are diseases: Down syndrome isn’t, and of course paternity has nothing to do with medicine. As for their mission, to “reduce the risk of genetic disease” is as close to openly eugenic as any of these companies get. The total effect of Natera’s words and imagery is precisely the opposite of what’s intended: rather than softening science and technology with images of nature, they present an image of nature in the grip of technology. The word Natera, in splicing the word nature with other words, produces something weird and unnatural: an etymological GMO, as it were, as sentimental and clinical as a blastocyst rising like a sun.
Each of the companies discussed here focuses, in a different way, on Down syndrome, and their explanations are as variable as the condition itself. Here’s Natera’s:
WHAT IS ANEUPLOIDY?
Aneuploidy is a term used to describe an abnormal number of chromosomes. Fetuses with aneuploidy usually miscarry. In fact, the majority of miscarriages are due to aneuploidy.
In some cases a baby can be born with an abnormal number of chromosomes, a situation usually associated with mental retardation and birth defects. An example of a common type of aneuploidy is Down Syndrome, caused by three copies of chromosome number 21.
Unlike its competitors, Natera is openly negative, using the outmoded term “mental retardation” and the deeply non-neutral “birth defects.” Beyond this problem, the passage manifests a key confusion: a collapsing of the microscopic (three copies of a 21st chromosome) and the macroscopic (the syndrome, a collection of probabilities).
As an empirical matter, you can see a chromosome, but you can’t see a syndrome. One is a thing, and the other is a diagnosis. One exists in a cell, the other in a person. But Down syndrome, according to the sentence, both is an instance of aneuploidy, and is caused by aneuploidy. That’s present, too, in the use of the term “birth defects,” which is typically used to describe a diagnosis, but here seems to refer to an individual expression of the syndrome.
For some, this will no doubt seem to be a case of semantics. On the contrary: as has been abundantly demonstrated, receiving a diagnosis of this nature is a powerful and fraught experience. Every word, every image matters. It is difficult enough to sort out what such a diagnosis means even when the information is clear. So for potential consumers of the new tests, the lack of clarity can complicate the decision in question.
If unclear or negative descriptions only affected consumers of fetal gene tests, then the problem could be remedied – theoretically, at least – through revision and regulation. But the potential consequences range beyond the consumers of the test, because the companies’ descriptions of human conditions have the potential to affect people with the conditions.
Those people are missing from the ads. Unlike the consumers of the tests, who are portrayed as smiling, concerned, happy, and photogenic, people with Down syndrome and other testable disorders exist only as blurry, medicalized abstractions – a combination of “defects” and “risks.” (That tendency to contrast an abstracted disability with a normal person is present even in the name of Sequenom’s test, MaterniT21. A person can be maternal; a cell has a trisomy.)
It is understandable, of course, that none of the companies in question feature smiling children with Down syndrome on their home pages. But that is precisely the point. Because the test’s main selling point is that it provides peace of mind, the need to market the test creates pressure to blur and oversimplify.
For this reason, it is necessary, in discussing the tests, to strip away salesmanship and highlight the unspoken. We should ask where “peace of mind” really comes from, and to what extent we should rely on technology to provide it; ultimately, we should not only grant the benefits these tests might provide, but ask what unintentional consequences might result from their widespread use. At issue are not only questions of health, choice, and information, but the question of who belongs.
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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