Looking for the Telltale Gene

A new genetic test allows parents to peer into their unborn children's medical future. Are we ready for this knowledge? A Columbia study looks for answers.

by Claudia Kalb Published Spring 2013
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About one-quarter of the women who received troublesome results would terminate their pregnancies. Of those who carried their baby to term, many now say they regret having learned about their child’s genetic flaws because the knowledge gives them so much anxiety.

“They watch their babies like hawks, always waiting for the other shoe to drop,” says Barbara Bernhardt, a genetic-counseling expert at the University of Pennsylvania’s Perelman School of Medicine, whom Wapner hired to conduct the follow-up interviews.

Wendy Chung / Photograph Jörg MeyerThese comments worry Paul Appelbaum, the director of CUMC’s division of law, ethics, and psychiatry. He wonders: if parents are constantly watching to see if something is wrong with their child, will this affect the natural bonding process? And what are the implications for parents’ psychological well-being?

“These are questions that nobody has ever confronted before,” he says. “We essentially have no data yet. So we need to proceed cautiously.”

Over the next few years, Wapner and his colleagues will be keeping track of the families whose children they identified as having dangerous genetic abnormalities, in part to answer these types of questions. And they are now providing more lengthy counseling sessions to people who request microarray tests, to make sure they are comfortable with the prospect of receiving vague results.

“We definitely had to improve some parts of our process, which is probably no surprise, given that nobody had ever done this before,” Wapner says. “Now we’re explaining to parents the test’s limitations, as well as its benefits, much more carefully up front, before they take it.”

Some physicians have suggested that the microarray test ought to be reserved for specific circumstances, such as following a troublesome ultrasound, until more research is done. But Wapner bristles at the notion of limiting the test’s availability in any way.

“Were people who found out there was something wrong with their baby nervous and upset?” he says. “Yeah, of course they were. But what’s the solution? To deny adults information that is readily available about their baby? That’s ridiculous. Clearly, this isn’t right for every woman. But I firmly believe that the test should be offered to every woman so that she can make that decision for herself.”

Exaggerated risks?

Most babies are genetically healthy. In the Columbia study, no dangerous genetic flaws were detected in 98 percent of cases.

“You know what the response of these parents is?” says Wapner. “Happiness and excitement. That’s what most people are getting — reassurance that their baby is OK.”

The same December day that his study made news, Wapner left his office, ate a quick lunch with his staff, changed out of his gray-striped button-down shirt and into blue scrubs, and extracted placental tissue from Maria Lopez, thirty-six and pregnant with twins, for a microarray analysis.

Maria and her husband, John, whose names have been changed for this article, wanted the test performed because they were concerned about their twins. John’s nephew is on the autism spectrum, and Maria’s mother has schizophrenia, leaving her unable to function socially or to develop deep bonds with her children and grandchildren. “I would not wish it upon anyone,” says Maria.

Thankfully, the test showed no significant abnormalities. Had the microarray results suggested a chance of either autism or schizophrenia in their unborn children, Maria would have considered termination.

Wendy Chung, a genetic researcher and pediatrician at CUMC, understands this. Chung treats children with special needs, some of whom can’t walk or talk, and she has witnessed the strain on parents. Babies suffer, parents get divorced, families are financially ruined. Like Wapner, she believes that parents deserve to get as much information as they want about the health of their unborn children as soon as they want it.

“Many couples have said to me, ‘I wish I had had the opportunity to understand this earlier,’” says Chung.

But the question on many scientists’ minds is this: will parents decide to terminate pregnancies based on imperfect information?

“How many people in the general population have these same DNA mistakes and yet are perfectly healthy? We just don’t know.”
— Wendy Chung

Much as Chung supports prenatal genetic testing — she is now collaborating with Wapner to improve microarray tests for heart disease, obesity, and diabetes — this is an issue that troubles her deeply. She worries, for instance, that genetic counselors and physicians who translate test results for parents may be inadvertently exaggerating children’s risks of health problems.

“A lot of the genetic data that is available has come from children who showed signs of health issues and were tested as a result,” she says. “So you have to ask: how many people in the general population have some of the same DNA mistakes and yet are perfectly healthy? We just don’t know. And that means our data is biased toward the worst-case outcomes.”

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