Alumni-led firm offers accessible genetic screening

May 7, 2013, 11:43 p.m.
LAURA MARTIN/The Stanford Daily
Courtesy of Laura Martini

Accessible genetic screenings for anyone considering having children could soon be a reality, if Counsyl—a genetic testing company founded by a team of Stanford alumni—achieves its aim.

The company, which provides screenings to two and a half percent of all prospective parents in the United States, was co-founded by Ramji Srinivasan ’02 M.S. ’04, Balaji Srinivasan ’00 M.S. ’04 M.S. ’05 Ph.D. ’06, Eric Evans Ph.D. ’08 and Rishi Kacker ’03.

After graduating from Stanford, Ramji Srinivasan worked in Morgan Stanley’s research division before returning to Silicon Valley and collaborating with Balaji — his older brother — on the startup.

“I thought to myself, ‘These guys are changing the world, and I’m here moving around pieces of paper. What am I doing with my life?’” he said.  “My brother told me, ‘You need to come back to Stanford and Silicon Valley, the genome is going to be the next Internet.’”

Counsyl’s screening kits test for more than 400 mutations and 100 genetic diseases, including cystic fibrosis, spinal muscular atrophy and various forms of muscular dystrophy.

The process of genetic screening is itself relatively simple. After picking up a testing kit from a healthcare provider and mailing a saliva sample to Counsyl’s lab, results are viewable online within two or three weeks.

“Anyone, regardless of family history, should be thinking of getting carrier screening,” Ramji Srinivasan said. “Many children born with a genetic disease don’t have a family history in the first place because these are genetic mutations are passed on from generation to generation silently.”

Professor of Chemistry Vijay Pande, who is one of Counsyl’s scientific advisors, said that Counsyl’s tests have many practical applications.

Diseases like cystic fibrosis, spinal muscular atrophy and Tay-Sachs have no cure, but a Counsyl test can prompt preventative measures. Parents who learn their child has a high expectancy of being born with a mutated gene can take informed action, such as deciding to use a donor egg or sperm, to ensure they will have a healthy baby.

“One of the big issues with genomics is, what can this information do for you?” Pande said. “It was very exciting what [Counsyl] proposed right away, and I think that all of that has come into fruition.”

According to Srinivasan, Counsyl’s use of customized software, hardware and wetware allows the firm to offer tests as a much lower price than competitors. While a full panel of tests may cost between $4,000 and $5,000 elsewhere, a Counsyl test is priced at $99 for customers with commercial insurance.

“We think of ourselves as a software company that just happens to run a lab,” Srinivasan said. “There is no one single invention [for the low cost], but customizing all three of those makes something work.”

Looking into the future, the company is focused on continuing to improve the aesthetic appeal and ease of use of the test kits, with Srinivasan noting that many companies in the medical field offer products with poor user interfaces.

“We want to reinvent genome medicine as it’s practiced in terms of all the aesthetic details down to our kit,” Srinivasan said. “Attention to fit and finish is not something that is present in medicine and we want to reshape that.”

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