Through Dirt-Cheap Genetic Testing, Counsyl Is Pioneering A New Bioinformatics Wave

For cynics who say that Silicon Valley has become too mired in photo-sharing apps and addictive games, take a 15-minute drive to South San Francisco. In a non-descript lab is a company that may be paving the way for the Valley’s next wave of disruptive startups, which marry software with data from the human genome. Counsyl is doing genetic tests that look for more than 400 mutations and at least 100 genetic disorders for parents who are planning children. At $599 total, or $99 with insurance, their tests cost a fraction of standard ones, which often only look for a single condition like cystic fibrosis, and run anywhere from $100 to $500. A full panel of tests for Ashkenazi Jews, a minority famously at risk for various genetic conditions, can run about $4,000 to $5,000 from companies like Quest Diagnostics. Founded six years ago, Counsyl has grown to handle carrier screening for 2.5 percent of all births in the U.S. To ramp up, Counsyl has quietly taken in roughly $65 million in funding from firms like Founders Fund, Felicis Ventures, India’s Manipal Group, Google’s senior vice president of corporate development David Drummond, WTI, Rosemont Seneca, and Google research scientist Jeff Dean. “We want to make the genome practically useful,” said CEO Ramji Srinivasan. “People don’t necessarily care about genomics. At some point, the novelty of this data will wear off. The diagnostic utility has to be extremely obvious: can it change someone’s behavior? Can it make them make a different decision?” The company is coming of age at a time when the costs of full-genome sequencing are falling faster than even Moore’s Law would have predicted. Full genome sequencing — not the kind of testing where you’re handling only select snippets of DNA — runs at around $8,000 now, down from $100 million in 2001. Capitalizing on this, Counsyl has products for both SNP tests and a more comprehensive sequencing test that is about $999 for 10,000 genetic mutations. It’s helped women like?Jen?Baumgartel, a nurse in a Nashville, Tennessee in vitro fertilization clinic, choose IVF over conceiving naturally. Through a Counsyl test, she found out both her and her husband were carriers for Smith-Lemli-Opitz syndrome, which put their potential children at risk of heart problems, developmental delays and cleft palate. They had a one-in-four chance of passing the condition on, and both Baumgartel and her husband carried the genes for

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