Stanford cardiologist Euan Ashley and his research team received a Guinness World Record last year for sequencing a full human genome in just over five hours. He says that’s just the beginning.
Ashley is at the forefront of a push by researchers to make more genetic information available to patients facing major health care decisions. Faster sequencing for patients with rare and deadly diseases can help their doctors decide which treatments and surgical procedures to try and which ones to avoid.
Last January, his team published a letter in the New England Journal of Medicine reporting that they had sequenced 12 seriously ill patients and diagnosed five of them in as little as seven hours and 18 minutes. In all five cases, the information led to tangible changes in how patients were treated.
STAT reached out to Ashley to learn what his team is working on now and how decoding his own genome has changed his life. — Jonathan Wosen
Your team got a lot of attention for setting a world record by using sequencing to diagnose a genetic disease. What have you been up to since then? What’s next?
We continue to be interested in sequencing genomes faster and more accurately, for a broader range of clinical applications. We’re recruiting from intensive care units similar kinds of patients to the ones we did before, but with every aspect of the pipeline upgraded, which helps both from a speed but also from an accuracy perspective.
We also have a lot of interest from cancer doctors saying it’s really important to make a cancer diagnosis quickly. And of course, there is no person who’s ever had the specter of cancer hanging over them for a moment that didn’t want some kind of an answer faster; if you can have it in the next minute, you would take it rather than waiting several weeks. So we’ve been starting a few pilot studies in the cancer space to look at returning results faster in the same way that we were speeding up the intensive care unit with whole genome sequencing.
Have you had your genome sequenced? If so, what did you learn?
I have, maybe more than once. I’m probably due for an update. The good news is that for most adults who’ve made it to a certain age and haven’t had any devastating diseases, it’s exceptionally rare that there’d be any large findings. On the other hand, for most people there are likely to be some findings of some importance.
In my case, I’m actually a APOE4 homozygote, so I have a risk for Alzheimer’s disease that I discovered from sequencing my genome. I’m now involved in discovery projects related to the genetics of Alzheimer’s with a colleague here at Stanford. And I’ve made lifestyle decisions as a result of that information. I exercise every day, and one of the reasons is I know I have family history risk and genetic risk embedded in my genome.