Steven Pinker, a well-known psychologist and author, who has also become something of a scientific guinea pig, was one of the first people to take a new genetic screen that predicts an individual’s risk for passing on more than 100 rare, inherited diseases. The test, developed by Counsyl, is now being offered to prospective parents. (To learn more about the test, check out this web story. )
Pinker, who has no children, discovered that both he and his wife, novelist Rebecca Goldstein, carry a genetic mutation linked to familial dysautonomia, a rare nervous system disorder. That means that if the couple had children, each would have had a 25 percent chance of inheriting the disease-causing mutation from both parents and therefore developing the disease. (Familial dysautonomia is a so-called Mendelian disease, which means that people who carry only one copy of the mutation, like Pinker and his wife, are not at risk.)
“Children aren’t in our cards, we are a little old for that,” says Pinker. “But if we had met a few years earlier, before the test had been invented, we would have been playing roulette with our kids.” After learning of their test results, Pinker’s siblings and Goldstein’s daughters also underwent testing, learning they are not carriers. The disease-linked variation is more common among Ashkenazi Jews.
Pinker, who serves as a scientific advisor to Counsyl, says that he hopes the couple will become “poster children” for screening. “The fact that we both tested positive for the same disease is a reminder that, yes, this can happen,” says Pinker. “The odds are low but not astronomically low. And it’s a serious enough risk that people ought to avail themselves of this technology.”
Pinker is also one of the first members of the personal genome project–an effort to compile both medical information and genome sequence data on thousands of people.
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