See Inside December 2010

One Hundred Tests

A cheap diagnostic warns couples against passing rare genetic diseases to their offspring

WHAT WOULD YOU PAY to ensure that your children would not be born with disabling or fatal recessive genetic diseases? The obvious answer is “anything,” but that's not what most people actually do. Individual screening tests can already identify silent carriers of many single faulty recessive genes—the kind that, when inherited in double (one copy from each parent), can lead to conditions such as cystic fibrosis and Tay-Sachs disease. But almost no one gets tested for all these mutations before conceiving because it would be too expensive—the dozens of tests cost several hundred dollars apiece. Because each potentially dangerous mutation is rare, most people choose instead to play the odds and hope their children will be healthy—a strategy that sometimes results in tragedy.

That isn't necessary anymore, thanks to a simple saliva test made by a company called Counsyl that interrogates the genome for more than 100 disease-causing recessive traits. In one sense, it is like having many traditional, separate tests combined; from a medical standpoint, it yields essentially the same results. But it does so in one go, at a cost of $350.

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