When an oncologist assigns Stage One status to a tumor he’s letting his patient know they’re catching the problem early. It’s the kind of shorthand that’s missing in most clinical conversations about expanded carrier screening. Basically, there’s been no easy way for a doctor to indicate how serious a particular genetic disease is. Gabriel Lazarin, who works closely with physicians in his job as Director of Genetic Counselors on Counsyl’s clinical sales team, decided to see if he could change that.

“I wanted to give physicians and patients a shared language,” says Lazarin, who joined Counsyl five years ago as its first genetic counselor. “A way to talk about the impact of a disease in a way that’s more objective than saying “it’s not that bad,” or “it is bad.” Two years ago he helped organize a study to establish a scale for rating genetic diseases and in December the Severity Index was published in Plos One Journal.
The result is that a physician can now easily guide patients interested in carrier screening to a customized outcome. There are patients who find it alarming that they’re carriers for early hearing loss, for instance, while others don’t really mind. Patients can choose to be tested for every disease on the panel, including GJB2-related hearing loss, rated 2, or moderate. Or maybe they only want to be evaluated for conditions that have been rated 4, or profound, such as Canavan disease and Smith-Lemli-Opitz Syndrome. The beauty of the Severity Index is that it’s up to patients to decide on their level of tolerance. Says Lazarin, “I hope this starts us down a path of making it easier for physicians to discuss screening with their patients.”

Internship with a genetic counselor sparks a career

Lazarin has always loved science and as an undergrad at Stanford was naturally drawn to genetics. News about the genome was exploding in the early 2000s and when an advisor noticed his interest he suggested Lazarin consider genetic counseling. Intrigued, he shadowed a genetic counselor and discovered he loved it. He spent a couple of years after graduation working in the Stanford admissions office but couldn’t shake the connection he’d felt so he applied to the masters program at the University of Texas Health Science Center at Houston.
Lazarin arrived at Counsyl after a stint working in a high-risk pregnancy clinic in Phoenix doing prenatal genetic counseling. His chance to be a Counsyl client came a couple of years ago when he and his wife, a family physician who lives with him in New York City, decided to have a baby. “I knew to not expect anything bad but I also know from clinical experience that the unexpected happens,” he says. So it was a relief, he says, to find their children weren’t at significant risk. In December, he and his wife welcomed a healthy baby girl.
Lazarin, who recently explained his study approach in a guest post on the DNA Exchange, says he’d love to do more research. “I think we’re helping advance the field of genetic counseling by taking something complicated and turning it into something predictable,” he says. “I’m happy to be working with an organization that’s so willing to share information that benefits everyone.”