FEATURE

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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Photographs by Jörg Meyer

“Imagine if parents and doctors knew from day one that a child was going to be susceptible to autism,” Wapner says. “They might catch it sooner and provide him early intervention, which can be critical. There are all sorts of things a physician can do with this information.”

In the spring of 2007, the National Institute of Child Health and Human Development awarded Wapner a $5.4 million grant to lead the first-ever clinical study on the use of microarray testing for pregnant women. The project, based at CUMC and involving twenty-eight partner institutions, would enroll 4,400 women to be tested. All participants would have a reason for needing special testing, such as advanced age (over the age of thirty-five), an indication of Down syndrome, or aberrations on an ultrasound. They would stipulate upfront how much information they wanted researchers to disclose to them. For instance, a woman could say that she wanted to learn about her baby’s genetic susceptibility to conditions that would affect him or her as a child but not adult-onset conditions like Alzheimer’s or heart disease. They could also ask researchers not to inform them of genetic flaws whose health ramifications were a total mystery.

“We knew this was going to be a stressful and anxiety-inducing situation for people,” says Wapner. “We didn’t want to needlessly upset them.”

The final results, long awaited by obstetricians and genetic counselors, were published in the New England Journal of Medicine this past December. They showed that the microarray test caught dangerous genetic errors in 6 percent of fetuses who appeared to be developing abnormally in ultrasound images but for whom a karyotyping test indicated no broken DNA. “That’s a lot. That’s huge,” Susan Klugman, director of reproductive genetics at Montefiore Medical Center in the Bronx, told the Associated Press. Even among fetuses who appeared healthy in both ultrasounds and karyotyping, the new test found that 1.7 percent of them actually had at least one genetic error that has been linked to disease.

On the basis of those results, which were widely reported last winter, Wapner and his colleagues at CUMC’s Center for Prenatal Pediatrics are now offering the microarray to all pregnant women who request a genetic test.

“Lots of people are now asking for it,” he says. “We find this exciting. It will make a big difference in how we can counsel patients.”

The new test will sometimes pick up oddities in a baby's DNA that are too subtle for geneticists to base any firm conculsions upon.

Guideposts to care

December 5, the day the Columbia study was released to the public, was busy and triumphant for Wapner. In his office that morning, surrounded by framed diplomas, orchid plants, and a bag of potting soil, he reflected on the dramatic advances that have taken place in his field.

“When I started practicing in the early 1970s, we didn’t even have ultrasound,” says Wapner, who still sees patients two days per week. “Now I’m decoding babies’ genomes. And with change comes fear, of course. Some people, practitioners included, are afraid of change, and they are afraid of new information.” The new test will sometimes pick up oddities in a baby’s DNA that are too subtle for geneticists to base any firm conclusions upon.

One lesson Wapner has learned over the years, he says, is that you can never predict how people will respond to the prospect of having their baby’s genome read. Some prefer as little information as possible, even if their baby is at high risk for disease. Others request every detail and agonize over the odds. Wapner says that it is up to his patients to decide how much information they can handle. His job, as he sees it, is to dig up every bit of data he can provide them. “When they sit down and face their own situation,” he says, “I find they really are able to comprehend it and deal with it.”

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