Counsyl, a genetic testing startup company is now offering prospective parents what it calls a "universal genetic test" that aims to let them know how their genes might combine to produce genetic disease in their offspring. Counsyl can screen for the genes associated with 100 or so rare diseases. The cost is $349 for an individual or $698 for a couple. People often are carriers of recessive genes that could cause disease if their procreative partner also carries such genes. Counsyl argues that its test allows users to prevent needless suffering. For example, users who test positive for a disease could choose to avail themselves of in vitro fertilization combined pre-implantation genetic diagnosis of embryos, use donor eggs or sperm, or prepare themselves for the possibility of a bearing a child with the disease. In the latter case, parents might also then have a head start on possible early treatment options.
According to Technology Review, Harvard linguist and cognitive researcher Steven Pinker and his wife novelist Rebecca Goldstein have taken the test. TR reports:
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."
What are the chances that both parents might be carriers of the same deleterious genes? The New York Times reports:
Counsyl executives say 35 to 40 percent of people tested are carriers for at least one disease in the test. In about 0.6 percent to 0.8 percent of cases, they say, both members of the couple are carriers for the same disease.
Counsyl's assertion that "genetic testing is a human right, not a luxury" goes too far, but I do agree that anyone who wants to use such testing for themselves should be allowed to do so.