Realizing the Potential of Genomics-Driven Precision Medicine

Podcast, Videos


Jennifer Helfer, Senior Director, Patient Advocacy & Engagement at Encoded Therapeutics Inc., joined me for a discussion around genomics-driven precision medicine, gene therapy misconceptions and fears, involving patients and caregivers in designing gene therapy trials, how to achieve true patient-centricity, and much more!

Here is a sneak peek of our conversation:

Q: How difficult is it to get an actual diagnosis of Dravet Syndrome, and is the genetic test really the panacea to get this diagnosis?

A: That’s a great question. Just in the past few years, I think, especially with genetic testing, getting a diagnosis of Dravet Syndrome has become a little bit easier for these families. Not to say it still doesn’t take months or longer depending on the physician. Because the first sign of Dravet is seizure and that is the first symptom onset of this, that usually takes them to the hospital and from there, because Dravet is so rare, they don’t automatically think Dravet. They think, “Oh, this could be a one-off. Let’s see if it happens again.”

It does take some time. If you’re an expert center though that deals with pediatric epilepsy, your route to diagnosis is a little bit faster. I think with the onset of genetic testing, it has helped too. Dravet though itself is a clinical diagnosis and it’s diagnosed through the types of seizures, what shows up on the EEG, and the genetic test helps confirm that. As I mentioned earlier, only about 80-85% of individuals have this genetic mutation that results in Dravet but there are still 10-15% of individuals for whom that’s not the cause…

For more of our discussion, you can watch the whole Fireside Chat with Jennifer Helfer, or listen to the podcast version, below.

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