New Genetic Tests for Women Who Are Expecting

Wall Street Journal   Women expecting a baby or planning a pregnancy are being pitched a fast-growing array of tests to check if they are carriers for hundreds of mostly rare genetic diseases.<

Such genetic testing, called carrier screening, has long been targeted mainly at people of certain ethnic groups such as Ashkenazi Jews, who are at higher risk for some conditions such as Tay-Sachs disease. Now, companies that offer carrier screening are promoting the idea that testing everyone for many diseases is a more effective way to reduce the number of babies born with serious disorders, including cystic fibrosis, a life-limiting lung condition, and Canavan disease, a fatal neurological disorder.

“We have the technology and it’s affordable enough that we don’t need to put people into ethnic categories,” says Shivani Nazareth, director of women’s health for Counsyl Inc., in South San Francisco, Calif., one of the largest carrier-screening companies. “If we can offer the same panel to everyone, it’s so much more efficient.”

Scientists keep identifying new gene mutations, or variations, associated with specific diseases. Advances in DNA technology allow companies to quickly screen large numbers of people, using saliva or blood samples, to determine if parents could pass the genetic variations to their children.

Counsyl offers tests that aim to detect heightened genetic risk for at least 98 different diseases, for between $599 and $999. Another company, Gene by Gene Ltd., of Houston, plans in the next few months to introduce First Look, a test billed as the most comprehensive on the market that can screen for more than 300 diseases. The company expects the price could be close to $1,500.[...]

Ashkenazi Jews, those hailing from Eastern Europe, have long been tested for about 20 genetic disorders including Tay-Sachs disease, Canavan disease and familial dysautonomia, a neurological condition. New York’s Mount Sinai Medical Center recently expanded its screening for this group to include 38 possible diseases, after the hospital’s genetic testing laboratory found these patients are at increased risk of being a carrier for a wider range of genetic conditions than previously thought.

Mount Sinai also offers for as much as $1,000 broader carrier screening to all women, Jewish or not, for a total of 111 disorders. “If you want to know your carrier status for a larger number of diseases, do the all-inclusive testing,” says Lisa Edelmann, director of Mount Sinai’s genetic testing lab. “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.” [...]