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There's a Test for That

This post has been updated to clarify what Counsyl's test examines.

Carrier screening of prospective parents is becoming more widespread, the Wall Street Journal reports. Such screening had been limited to people of certain at-risk ethnicities or with family histories of disease, but new technologies are making it cheaper to test everyone.

"We have the technology and it's affordable enough that we don't need to put people into ethnic categories," Shivani Nazareth, director of women's health at Counsyl, tells the Journal. "If we can offer the same panel to everyone, it's so much more efficient."

Currently, the Journal notes that the American College of Obstetricians and Gynecologists recommends universal carrier screening for only cystic fibrosis, as about 1 in 29 people of European descent are carriers. People of Ashkenazi Jewish descent, it adds, have been tested for years for diseases like Tay-Sachs disease, Canavan disease, and familial dysautonomia.

Counsyl and other companies like Gene by Gene and hospitals like Baylor College of Medicine and Mount Sinai Medical Center are offering broader screens to more people. For instance, Counsyl has a $599 test that looks for common mutations in more than 98 genetic disorders and a more in depth $999 test, while Mount Sinai has a $1,000 carrier screen for 111 disorders that it offers to all women.

"If you want to know your carrier status for a larger number of diseases, do the all-inclusive testing," Mount Sinai's Lisa Edelmann says. "So many people don't really know their full ancestry. I know on one side that I am a quarter Italian and at least a quarter Polish, but the other half is not as clear."

Still, Nancy Rose from Intermountain Healthcare notes that widespread screening "might yield more worry than benefits," as the Journal says, especially if it picks up variants in the parents that won't affect the children.