Julie Prillinger in one of the early patients. From skiing black diamond runs, to flying small planes, you could say her life isn't for the faint of heart. But in a twist of fate, her heart has become an issue.
"I was 25 when I was first diagnosed. They didn't quite know right away," Prillinger says.
Her condition turned out to be hypertrophic cardiomyopathy -- a thickening of the heart walls which can trigger cardiac arrest. She controls the symptoms with an implanted defibrillator. But since becoming a new mom, she's decided to learn whether the condition is the result of a specific gene mutation and what that might mean for her daughter's health.
"If we are able to identify the gene that causes my HCM, it could change her treatment strategy," she believes.
To learn the answer, Prillinger is about to have her entire genome sequenced at a new genomics service just established by Stanford Hospital. Genetic counselor Megan Grove, MS, CGC, says its purpose ranges from helping families manage specific genetic risks to pinning down the causes of unexplained illnesses.
"When we find a variant or genetic difference that we're very confident contributes or is explaining this picture, it's simultaneous relief and excitement and just great to provide the news to the patient," says Grove.
Heart specialist Euan Ashley, MBCHB, is the clinic's co-director. He says a single blood sample starts a complex process that would have been unfathomable just a few years ago. First the patient's DNA is separated out and placed in powerful gene sequencers. After the results are in, a Stanford team uses sophisticated algorithms and sometimes their own eyes, to hunt for genetic variations.
"And then we look at the differences, and that leads to a long list of potential candidates that may be contributing to disease," says Ashley. "At the end of the day, we're detectives."
The value is still being gauged, in part because of the interpretation involved. But Ashley says the services first early targets have been children and adults with unexplained conditions that could take months or years to pin down.
"What we're doing is starting with these specialized conditions where we think genome sequencing can have the highest impact. And where we can make biggest impact is in conditions that have escaped our diagnostic technologies," Ashley explains.
For Prillinger, it's a chance to change the future, and secure her daughter's health. She says, "It could would also provide peace of mind potentially for my husband and myself, if we could say definitively that she doesn't carry the gene."
The Stanford team believes in certain cases, the genomic information could pinpoint which drugs would be most effective for individual patients, based on the make-up of their disease.
Written and produced by Tim Didion