The Sad Controversy Over a Misleading Autism Test

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Part of the reason misinformation and rumors thrive about autism spectrum disorder (ASD) is the insidious way the condition manifests itself. It’s not that parents wake up one day and suddenly their kids have shifted from not-autistic to autistic — rather, there’s usually a slow, steady realization that their kid is different from other kids, often manifesting in behaviors like a lack of eye contact.

Naturally, this leads to a lot of uncertainty, and this uncertainty is only heightened by the apparent benefits of diagnosing ASD at as young an age as possible. As I wrote in 2014, certain behavioral interventions have shown promise in “treating” autism, either by increasing the likelihood a child with ASD will be able to live an independent life as an adult, or that they will eventually shed the diagnosis altogether. “One thing that’s clear, though, is that the earlier these sorts of interventions start, the better,” I wrote. “The human brain gradually gets less plastic over time, and it becomes harder to change certain ingrained behavioral patterns. The challenge is that it’s tough to diagnose autism from a very early age — there are no known biomarkers that can tip clinicians off to the presence of the disorder, forcing them to rely instead on behavioral signals that can be tough to decipher when it comes to very young infants.

All of which brings us to an article in Spectrum, a site devoted to covering autism research, about a placental test for autism that is gaining a lot of attention — and not in a good way.

As Ann Griswold writes, back in 2013 Harvey Kliman, director of the reproductive and placental research unit at Yale School of Medicine, unveiled his PlacentASD Test “as a tool to gauge a child’s risk of autism at birth, just months after publishing a study on placental folds” [link added]. The idea is simple and extremely appealing if you’re a new parent: You send in frozen placenta, and Kliman’s company, which is run out of Yale, informs you whether your child has a heightened risk for autism — knowledge that could help steer you toward early treatment options.

The test is based on Kliman’s research, which has focused in part on “tiny structures in the placenta called trophoblastic inclusions … [which] form when cells divide too quickly and cause the placenta to fold in on itself, instead of bulging outward as it normally does.” In one of these studies, placentas from siblings of children with autism had more of these folds than placentas from a control group. In the other, aforementioned one, “Kliman found that 39 percent of 13 preserved placentas from children with autism had the inclusions compared with 13 percent of 61 placentas from controls.”

All of which makes it look like there’s some sort of important correlation between these folds and autism. Except: In other research, including some of Kliman’s own, the folds have been associated with other conditions. Their presence or absence, in other words, might not tell us very much about the odds a kid will develop ASD, and at the moment there are fairly solid reasons to believe it doesn’t. Moreover, there have been zero published trials actually correlating the results of this specific test with future ASD diagnoses.

And yet it is being marketed to parents, and can cost up to $2,000. There’s also some debate over whether or not it’s covered by insurance — PlacentASD claims companies like Aetna cover it, but an Aetna staffer told Griswold that due to that lack of evidence for its efficacy, the company does not cover it. It appears from Griswold’s reporting — which, as a sidenote, is seriously excellent — that the Yale lab attempts to get insurance reimbursement by “bill[ing] for each incremental task, such as fixing a sliver of placenta onto a pathology slide, rather than for the test itself.”

All of this makes for an ugly situation in which it certainly appears that nervous, vulnerable parents are being sold a diagnostic test that is less than half-baked. Griswold got some strikingly forthright quotes from Kliman’s peers in the autism-research world, given how diplomatic researchers tend to be when critiquing one another’s research and ventures. “The idea that this is being marketed without fully acknowledging its limitations is scary,” Catherine Lord, who heads the Center for Autism and the Developing Brain at New York-Presbyterian Hospital, told her. Helen Tager-Flusberg, who heads the Center for Autism Research Excellence at Boston University, said she was “truly appalled at the rush to market a test that has such weak predictive power to vulnerable families.”

Most damning, perhaps, was the assessment from Cheryl Walker, an OB/GYN who headed the 2013 study that offers a sizable chunk of the ostensible evidence that the test works. “It’s one thing to believe in something with all your heart, especially for someone as smart and committed as Dr. Kilman; it’s another to be painstaking about not going beyond your data,” she told Griswold. “There are no published data to support the new test as a screening tool.”

Shoddy or premature science doesn’t catch on in a vacuum. It catches on when there’s a market for it. Parents wary about autism, unfortunately, offer a particularly nervous, eager market for ideas that aren’t quite ready for prime time.