Excerpted by permission from The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids — And the Kids We Have, by Bonnie Rochman. Copyright © 2017, published by Scientific American/Farrar, Straus and Giroux.
When I met Ryan Docherty, he had just celebrated his first birthday, and the helium-filled Mickey Mouse and Elmo balloons from his party were still aloft. He started walking recently and likes to drop a toy or a spoon—anything, really—over the side of his highchair with a chirpy “Uh-oh!” and wait for an adult to retrieve it. Then he drops it again and giggles. In other words, Ryan, who has pale blue eyes, squeezable cheeks, and downy reddish-blond hair, is completely typical for his age.
“And to think we almost terminated him,” says his father, Steven Docherty, who has cut right to the chase. “He’s a miracle baby.”
The ethics of abortion are set to become much more complicated as more women have access to powerful genetic tests such as microarray, for these tests can identify genetic flaws that are not readily understood. In the case of Ryan’s ambiguous genetic errors, confirmation was the easy part. It was the interpretation—figuring out the significance of the problems that microarray had detected in utero—that proved difficult.
When she was pregnant, Ryan’s mom, Jen Sipress, had a microarray test. A chromosomal microarray analysis can detect deletions and duplications of genetic material—errors that are far smaller than an entire extra chromosome. But just because they’re smaller doesn’t mean they can’t wreak havoc. Some are associated with genetic disorders; many more aren’t associated with anything because they’re so newly discovered or because they don’t appear to be detrimental according to the limited amount of research that exists. Sipress, 42, is a New York City narcotics prosecutor; she thrives on evidence. When her test results came back, the evidence was disconcerting: Ryan, still in utero, had not one but two findings—“variants of uncertain significance”— inherited from his mother and his father. Docherty had passed down a duplication involving six genes, while Sipress had contributed a deletion on chromosome 15 involving four genes. In general, deletions are considered more worrisome than duplications; our bodies can often deal with some extra genetic material, but it’s not as easy to compensate for DNA gone AWOL. To make matters worse, one of the four missing genes had been associated in the medical literature with intellectual and developmental delay. Here’s where things got really confusing: Sipress was missing that same gene, and she didn’t appear to be affected at all. She worked hard as the family’s primary income earner, putting drug dealers behind bars. She hadn’t even known she was missing any genes until the microarray results came back. But genes—or their absence—can affect people differently; it’s a phenomenon called variable expressivity.
Before the amniocentesis to collect fetal cells for the microarray analysis, Sipress and Docherty had decided that were they to learn that their unborn child wouldn’t be able to live independently as an adult, they would end the pregnancy. When they got the results, they leaned toward abortion. After talking to their doctor, Ron Wapner—the author of a New England Journal of Medicine study about microarray’s effectiveness—they changed their minds. As Sipress recalls, Wapner, director of reproductive genetics at Columbia University Medical Center, said, “ ‘I get people coming in here who ... want to know this is 100 percent fine.’ And he said, ‘I can’t give you 100 percent. I can give you 80 percent.’ And I said, ‘I’m going to take those odds.’ ”
Emotionally, it was a terrible time for Sipress and Docherty. Ryan was their first child, and he had been conceived after two rounds of IVF. But Sipress doesn’t regret finding out. “I don’t understand why even women in their twenties aren’t undergoing this testing,” she says. “Knowledge is power. Doesn’t everyone realize that?”
It’s certainly made for some awkward conversations with her husband’s family in Scotland, who know about the missing genes. “They ask if there is something wrong with the kid, and I say, ‘Technically, yes, but he’s not exhibiting any symptoms,’ ” says Sipress. To that end, Docherty, who stays home with Ryan, is a vigilant observer. “Are we still worried?” says Docherty. “Absolutely.” It’s easy to attribute every behavioral challenge—Ryan’s not a good sleeper, but neither are lots of babies—to the missing genes. Anticipating this, Wapner has cautioned them against engaging in this sort of genetic determinism. “He said, ‘Go about your business. If you feel something is really wrong, then you act.’ To be honest,” says Docherty, “Ryan doesn’t have a problem, as far as I can see.”
To what end are we willing to go to detect disability? Once we find it, is there a dividing line between “good,” or tolerable, disabilities and “bad,” or intolerable, limitations? How do we decide which ones may warrant abortion and which are acceptable? What feels overwhelming to one person—the birth of a child with a genetic disorder—may feel like God’s gift to another. Who are we to judge what—who, more accurately—is a gift and who is a burden?
All things being equal, it’s tough to argue that having a significant disability is a good thing for a particular person. Most people, given the choice, would rather not have a disability of any kind, nor would they want their children to have a disability. “There is nothing wrong with saying, ‘I’d rather my child not have this disability,’ as long as we don’t go from there to the view that people with disabilities are worth less,” says Ruth Faden, former executive director of the Berman Institute of Bioethics at Johns Hopkins University.
One of the best-known disability researchers is the late bioethicist Adrienne Asch, who herself was blind from her first weeks of life. She was strident in her opposition to prenatal testing and to performing abortions specifically to avoid having children with disabilities. At the same time, she believed strongly in reproductive rights and access to abortion.
Although the two positions appear at odds with each other, Asch didn’t see it that way. It is OK, she believed, to pursue abortion if you don’t want to have a child; it is not OK to end a pregnancy because you don’t want that child. In other words, it’s fine to have an abortion because you don’t want to be a parent; what’s not acceptable is to have an abortion because you don’t want to parent a disabled child.
“If public health espouses goals of social justice and equality for people with disabilities, as it has worked to improve the status of women, gays and lesbians, and members of racial and ethnic minorities, it should reconsider whether it wishes to continue endorsing the technology of prenatal diagnosis,” she wrote in the American Journal of Public Health in 1999.
The psychiatrist Dorothy Wertz had a wry take on that view. Wertz, who worked at the Eunice Kennedy Shriver Center in Waltham, Massachusetts, had researched attitudes about disability among genetics professionals, doctors, and patients. “To answer Adrienne Asch’s critique of genetic screening, Dr. Wertz joked that most abortions already take place for genetic reasons: half of the fetus’s genes are from a man with whom the woman does not wish to have a baby,” wrote Dan Kennedy in his memoir about his daughter’s dwarfism. “From there, it is a short leap to choosing abortion for genetic reasons such as serious illness, not-so-serious illness, or conditions that simply don’t match the prospective parents’ vision of the perfect child.”
Setting aside the politics of abortion, it’s instructive to examine how disability is perceived in our society through the lens of what’s known as wrongful birth. In 2012, a Portland, Oregon, couple was awarded nearly $3 million from Legacy Health System, where the woman’s prenatal testing was performed, after their daughter, Kalanit, was born with Down syndrome. Deborah and Ariel Levy sued for damages, alleging the physician who had performed the chorionic villus sampling procedure had mistakenly removed maternal tissue instead of fetal tissue. Had they known that Kalanit would be disabled, they said, they would have had an abortion. Nevertheless, they said they loved their daughter “deeply” and would use the money for her lifelong care. When the verdict was announced, Deborah Levy began to cry. “One juror visibly held back tears,” reported the Oregonian. “Another wished them peace.”
Wrongful birth lawsuits are allowed in more than half the states, but they aren’t filed often—a few times a year in the United States, experts estimate. Why so few? Parents must go on record as saying they would have aborted their child had their doctor told them there was a problem. That’s a tall moral order, especially in a society that invites online castigation. One blogger wrote of the Levys, who have two older sons: “First, how can any parent simultaneously claim to ‘love’ their child, yet also wish that they had aborted them? ... They just had the perfect family until their little girl had the audacity to be born with an extra chromosome, and now, they have to be paid off in order to deal with the burden of raising her.”
How we view disability varies widely depending on the situation. We are a society rife with contradiction. Just because millions of people cheer Target for featuring children with disabilities in their ad campaigns doesn’t mean that they’d want to raise a child with disabilities—if they were given the choice. The opportunity to choose whether to have testing in the first place and then what to do about the results is arguably the most significant outcome of increasingly powerful genetic tests. It’s no longer just about whether to have a child, but about which sort of child to have.
Future Tense is a collaboration among Arizona State University, New America, and Slate. Future Tense explores the ways emerging technologies affect society, policy, and culture. To read more, follow us on Twitter and sign up for our weekly newsletter.