A
Alina Esterhuizen
Researcher
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APPEARANCES
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OCT 5
May 28, 2026
Genomic Data Meets Clinical Care: How doctors interpret and act on genetic findings
12:30
12:39
12:45
13:02
44:12

Alina EsterhuizenGUEST
in, in that, uh, you know, what we, uh, the, the genetic, uh, technologies and, and medical technology has changed, uh, dramatically.

Alina EsterhuizenGUEST
So we're able to access technologies that are able to give you a tremendous amount of, um, information.

Alina EsterhuizenGUEST
So, you know, in the past, diagnostic laboratories would focus on very specific genetic testing, where you'd be looking for something that's kind of known, either a particular mutation or, or, or a disorder that was monogenic, where you would test for variants in a s- in one gene.

Alina EsterhuizenGUEST
Um, a- and this is part of the reason why we've actually stopped talking about mutations and polymorphism-
31 MINS LATER

Alina EsterhuizenGUEST
... uh, we are now able to really link up a gene with a particular clinical pic- So with, you know, with the epilepsy, you would think that, well, epilepsy or seizures, seizure, seizures, seizure, if a child has a se- But, you know, the clinical presentation can really be quite complex, and there are su- very nuanced type of, uh, clinical, uh, uh, features that link up with a particular gene and a particular syndrome.
