May 28, 2026 · 52 min · 12 segments
This episode of When the Code Speaks explores what happens when genomic data meets real clinical decision-making. Joined by Prof Alina Esterhuizen, Prof Jo Wilmshurst and Prof Karen Fieggen, this…
Erin KinghornHost
Jo WilmshurstGuest
Alina EsterhuizenGuest
Karen FieggenGuest
I think all of you are gonna offer, uh, unique perspectives on, on, you know, the various topics that we plan on touching on today.
But before we jump into all of that, I think let's kick things off by just grounding us a little bit into sort of what a clinical reality might look like.
When, when someone is sitting in front of you, what does sort of the care pathway look like in a, in a genomic medicine setting?
Um, so many of our patients are obviously children, and, uh, and so getting a history out of them is a unique art.
Uh, and, um, with a lot of patience and a lot of asking, uh, not too directed questions, and similarly for the caregivers, uh, actually being sure first of all what we're dealing with.
So if we take the example with epilepsy, um, [lip smack] at least 30% of epilepsies are misdiagnosed.
So the first bit of my job is the detective work to actually unravel, am I sure that I'm actually dealing with an epilepsy? And then once we've done that, uh, we work through a series of, uh, investigations and histories to try and work out what the etiology is.
And, and so in Africa, we have the big five, so in epilepsy, we have the big six.
Uh, the sequelae of, uh, structural brain problems, which can be genetic, but, uh, commonly, sadly, in our setting, it's often because of birth trauma.
I think all of you are gonna offer, uh, unique perspectives on, on, you know, the various topics that we plan on touching on today.
But before we jump into all of that, I think let's kick things off by just grounding us a little bit into sort of what a clinical reality might look like.
When, when someone is sitting in front of you, what does sort of the care pathway look like in a, in a genomic medicine setting?
Um, so many of our patients are obviously children, and, uh, and so getting a history out of them is a unique art.
Uh, and, um, with a lot of patience and a lot of asking, uh, not too directed questions, and similarly for the caregivers, uh, actually being sure first of all what we're dealing with.
So if we take the example with epilepsy, um, [lip smack] at least 30% of epilepsies are misdiagnosed.
So the first bit of my job is the detective work to actually unravel, am I sure that I'm actually dealing with an epilepsy? And then once we've done that, uh, we work through a series of, uh, investigations and histories to try and work out what the etiology is.
And, and so in Africa, we have the big five, so in epilepsy, we have the big six.
Uh, the sequelae of, uh, structural brain problems, which can be genetic, but, uh, commonly, sadly, in our setting, it's often because of birth trauma.
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