Genetic tests have a way to go

Genetic tests give consumers hints about disease risk; critics have misgivings

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Gall found some of the results "useful," including a warning that he might be unusually sensitive to blood-thinning medications and an alert that some of his ancestors were Ashkenazi Jews, who have an increased risk of certain diseases. Other findings aligned well with his own experiences: One of his genetic variants makes him less able to taste bitter flavors and another means he's more likely to go bald.

But the results related to his most important concerns were perplexing: Despite the fact that his father and other close relatives have multiple sclerosis, both companies agreed that Gall and his father had a below-average likelihood of getting the disease. And they found an average predisposition for heart disease, even though heart disease runs in his family and even though his father had a heart attack at age 50 despite eating right, exercising and having very low cholesterol.

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Or more importantly, if the kids are yours?

Startup aims for routine preconception genetic testing.
By Emily Singer
TUESDAY, FEBRUARY 02, 2010


Counsyl, a Stanford startup based in Redwood City, CA, has developed a genetic test for prospective parents that determines their risk for passing more than 100 different genetic diseases on to their child. The test, which costs $349 and is already covered by some major insurers, could rapidly expand preconception screening for rare inherited conditions. For most people, screening recommendations are currently limited to the chronic lung disease cystic fibrosis, with broader testing offered to some ethnic groups.

Prepregnancy screening: To determine the risk of passing rare inherited diseases to their offspring, prospective parents spit in a tube (shown here) and then send the sample to Counsyl, a California-based startup. The company screens the sample for genetic mutations linked to more than 100 diseases.

While the genetic culprits for more than 1,000 rare inherited diseases have been identified, screening for them has been limited, largely due to cost. The comprehensive nature of Counsyl's test and its reasonable price tag reflect rapid advancements in screening technologies. "When cystic fibrosis testing first started in the early '90s, it cost on the order of $350," says Philip Reilly, a clinical geneticist, now with Third Rock Ventures, a Boston-based investment firm. "Now is offering to test for 100 disorders for the same price, and it will fall lower." In the late 1990s, Reilly, who is not involved with Counsyl, launched a similar company, which he says failed partly because testing was still too expensive.

Counsyl's test detects genetic variants linked to rare inherited conditions such as cystic fibrosis, Tay-Sachs disease, and Pompe disease, a metabolic disorder featured in the new film Extraordinary Measures. (Counsyl, which until recently was operating in stealth mode, appears to have pegged its public debut to the film's release.) While individuals carrying a single copy of the mutation for such diseases are typically healthy, those who inherit two copies, one from each parent, are guaranteed to develop it. Many of these diseases are incurable and have devastating consequences, including early death.

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