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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Robert Klitzman, a prominent bioethicist and clinical psychiatrist at CUMC, is similarly worried that parents may abort babies who might have grown up healthy. And he raises other concerns. If genetic testing becomes more widespread, will there eventually come a time when the parents of children with special needs will be regarded as irresponsible for not having tested them in the womb? Could this, in turn, have implications for the public funding of special-education services?

“We’re entering a brave new world that I’m not sure we’re entirely ready for,” Klitzman says. “To me, there’s a large question about whether we should do more research before we now offer this to absolutely everyone, regardless of whether the fetus or future child may be at any risk.”

Today, the prenatal microarray test is offered at dozens of medical institutions around the country, many of which are participating in Wapner’s research: every time a woman receives a positive result on a microarray test at one of these partner clinics, the woman is given the choice of taking part in his study. Those who agree may be interviewed about their experience, and if they bring their baby to term, its health may be tracked for the first few years of life.

“This is going to generate more information about what effects those tiny DNA deletions and duplications have on a child’s health,” Wapner says. “And then, five or ten years from now, there will be fewer and fewer DNA mistakes about which we can’t make predictions. We’re studying this topic from every angle possible.”

In the meantime, Wapner’s own staff at CUMC’s Center for Prenatal Pediatrics continues to provide the test for ten to fifteen women per week. Some of these women arrive because a doctor spotted something mysterious on an ultrasound. Others have a history of illness in their family and seek assurance that their baby won’t inherit the same disease from which relatives have suffered. Others are simply meticulous information gatherers and want the peace of mind that comes with knowing their baby is healthy.

“I’ve seen women who are afraid to have a baby because their first child has a severe disorder,” Wapner says. “Often I’m able to report back to them: ‘This baby is fine; he’s not carrying the same gene.’ So that’s a life that might not have entered this world if it weren’t for the test.”

Leaning forward in his swivel chair, folding his hands as he reflects, Wapner says: “I think that overall, the good dramatically outweighs the harm.”

Tomorrow never knows

For Trishia Bermudez, the good may well have outweighed the harm. The information she received about her baby was upsetting, but it didn’t derail her pregnancy. Bermudez feels strongly that even the most sophisticated science cannot forecast human destiny. “You can have all these speculations and run all these tests,” she says, “but you can’t really tell how a child will turn out until he’s out of the womb.”

On October 24, 2012, Bermudez became a mother. Matthew weighed three pounds, fifteen ounces. He has his mother’s mouth and his father’s curly hair. Dad has already signed him up to play for the Knicks. As for Bermudez, “I’m just looking for him to be a happy and healthy kid and to enjoy life as it’s meant to be. That’s all I hope for.”

Nobody can say for certain how sick or healthy Matthew will be tomorrow or decades in the future. For now, he is cooing and smiling, and his mother is drinking in every minute. “I love him dearly, no matter what the situation turns out to be,” she says. “He’s my son, and I love him unconditionally.”

Claudia Kalb is a freelance writer living in Washington, DC. She was a senior writer at Newsweek and has contributed to Smithsonian and Scientific American.

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