Thinking of starting a family? Now there鈥檚 a comprehensive, affordable screening service to enable you and your partner to check if you are carrying a serious genetic disease.
For a mere $349, of Redwood City, California, will run a panel of genetic tests on saliva samples to see if prospective parents carry mutations that underlie .
Many of the mutations involved are 鈥渞ecessive鈥� variants that cause disease only when passed on by both parents 鈥� and so can lie hidden in families for generations. Counsyl is working with so that couples at high risk of having a child with a serious genetic disease can have IVF including pre-implantation screening to select healthy embryos.
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Cystic fibrosis
While screening potential carriers for diseases such as cystic fibrosis is already widely available, getting tested for multiple conditions has so far been prohibitively expensive. 鈥淚f you wanted to test all of these things it would be $250,000,鈥� says Balaji S. Srinivasan, Counsyl鈥檚 chief technology officer.
Some geneticists are concerned that the results may cause couples unnecessary worry and extra medical costs. 鈥淥nce you get up to about 100 conditions, the odds are that everybody鈥檚 going to be a carrier,鈥� suggests Michael Watson executive director of the in Bethesda, Maryland.
Watson adds that few carrier tests have been validated in rigorous surveys of the general population, and in some cases may give less informative results in particular ethnic groups.
