Each year in the United States one in 280 babies is born with a serious heritable disease—conditions such as cystic fibrosis or Niemann-Pick disease caused by genetic mutations passed on by parents who, for the most part, never suspected that they were carriers. In some 80 percent of cases, there is nothing in the family history to indicate that a couple is at risk for having a sick child. Yet the medical genetics literature suggests that, on average, each person carries four to five potentially lethal recessive mutations.
Proactive carrier testing could significantly reduce infant mortality (genetic diseases are responsible for about 10 percent of childhood deaths). But traditional tests would be impractical to implement on a large scale: They screen for only one disease at a time, require a blood sample and cost anywhere from $500 to $1,500 per test.
Enter Counsyl. The Redwood City-based startup founded by five Stanford alumni has developed a relatively inexpensive, noninvasive test to screen for genetic aberrations responsible for more than 100 different heritable diseases. Its audacious goal: to eradicate preventable genetic disorders.
For company president Balaji K. Srinivasan, '99, MA '00, known to friends as BK, the motivation is personal. Within a span of five years, two of his uncles died unexpectedly from heritable blood disorders that are manageable if diagnosed early. "It became clear to me from my own experiences that preventable diseases that were dormant for generations can suddenly surprise families, and there were no comprehensive screening paradigms in place," Srinivasan says.
In 2004, he began talking with Balaji S. Srinivasan, '01, MS '04, MS '05, PhD '06 (no relation) and Eric A. Evans, PhD '08, who were completing doctoral work in genetics. Their converging interests in social justice and medicine led to discussions about the challenges various ethnic groups face when doctors try to diagnose and treat rare medical conditions, such as familial Mediterranean fever and spinal muscular atrophy. By the end of 2009 the trio, along with Ramji Srinivasan, '03, MS '04 (younger brother to Balaji S.) and Rishi Kacker, '03, had launched their company—initially operating out of the Stanford West apartment complex.
Counsyl's test kit is available from physicians at more than 200 clinics nationwide. The kit contains a plastic tube for collecting saliva and an envelope for mailing it to a Bay Area lab for analysis. Test results are posted within two to three weeks to a secure website; Counsyl also offers genetic counseling services via phone.
The panel of genetic tests costs $349 per person (it's recommended that both partners be screened) and is often covered by health insurers. Financial aid, provided by the company and nonprofit organizations, is available for those in need: "It's not enough to make the test," says BK Srinivasan. "We want to remove all cost barriers and make it available to a lot of people affected by diseases."
JANELLE WEAVER, PhD '06, is a freelance writer based in Colorado.