A California company called Counsyl Inc. is the latest contender in the effort to push genetic testing into the consumer mainstream.

See this story, by Michael Totty for the WSJ: A Genetic Test for Prospective Parents

Proponents of universal prepregnancy genetic screening make a bold claim: If these tests were widely available, they could significantly reduce, and possibly eliminate, hereditary diseases. Parents who discovered that they carried the genes that would put their children at risk for these diseases could pursue other alternatives—adoption or in vitro fertilization, for example. Widespread screening also could reduce infant mortality; 20% to 30% of infant deaths are caused by genetic illnesses.
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Counsyl, based in Redwood City, Calif., has devised a single test that covers more than 100 genetic disorders, including Tay-Sachs, cystic fibrosis and spinal muscular atrophy. The saliva-based test costs about $350….

A few points worth noting:

1) Counsyl is no fly-by-night operation. According to the WSJ story, their lab “received regulatory approval in the U.S. in the spring of 2009.”

2) The pricing for Counsyl’s test (even if customers choose not to submit an insurance claim) is well within reach for millions of concerned middle-class parents. In terms of finding a market for genetic tests, this seems like a bit of a breakthrough.

3) As with most genetic tests (and many other kinds of tests), the big question for consumers remains: what should I do with this new knowledge? The company’s FAQ says that their tests “are intended to be easily understood by non-scientists”, and that they offer free genetic counselling by phone or email. But that won’t necessarily tell parents what they should do — IVF? adoption? take a chance? — in the face of new information about the risks they face.