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Why Genetic Diagnoses Take So Long for Kids · CareTalk: Healthcare. Unfiltered.

• 0:06
  John: The reality is we have now tools to to, to potentially repair or replace some of the genetic, um, um, uh, defects, if you will.
• 0:23
  John: That if, if, if it care.
• 0:25
  John: I wanna be careful with my language here that can trigger.
• 0:28
  John: Disease and if we can reverse them or edit them, potentially save, literally save the child that was otherwise had a, had a short term, very terminal illness.
• 0:39
  John: I mean, it's, it's pretty amazing.
• 0:41
  John: I mean, it's a, it's a, it's a, it's a quite a powerful and dangerous engine, but one that could be transformational.
• 0:48
  John: Catherine, maybe.
• 0:49
  John: Now that we've sort of laid, laid out the playing field and the opportunity and the transformational possibilities of being able to fix what may be broken in our, in our, in our essential coding, um, talk a little bit about what your company does and what you, what you hope it will do in the future, and how it can play a role in helping us save more children.
• 1:13
  Katherine: Well, the, the company that I have, the, the privilege of leading, uh, is called Gene Dx.
• 1:20
  Katherine: We were actually funded and founded at the, the National Institutes of Health, um, more than 25 years ago by one of the leading geneticists, um, Dr. Sherry Bales, who, um, who is known as the person that if, if.
• 1:37
  Katherine: You couldn't diagnose a child if it was just too complex of a case you, you'd reach out to, to Dr.
• 1:44
  Katherine: Bales.
• 1:44
  Katherine: And she would be able to, to, uh, to break down the complexity and, and diagnose that that child.
• 1:51
  Katherine: And, uh, so the company grew out of her growing caseload.
• 1:57
  Katherine: Um, I joined the company five years ago really to help scale.
• 2:01
  Katherine: The business and to be sure that as many families, um, both in the US and around the world, have access to our technology today.
• 2:12
  Katherine: Um, and so we use whole exome sequencing and whole genome sequencing, um, on a growing number of, of families.
• 2:22
  Katherine: Um, in order to get them a diagnosis.
• 2:24
  Katherine: You of course cannot treat.
• 2:26
  Katherine: That which you cannot diagnose.
• 2:28
  Katherine: And so the importance of the earliest possible diagnosis, um, cannot be understated.
• 2:35
  Katherine: And, and the problem today is that it still takes, on average five years for a child with a, a genetic disease to get an accurate diagnosis.
• 2:45
  Katherine: And it's because these tests are used way too late.
• 2:48
  Katherine: Wow.
• 2:49
  John: Wow.
• 2:50
  John: Say that again.
• 2:52
  Katherine: It, it takes on average five years.
• 2:54
  Katherine: So if you think about a, a child who is, uh, two years old who has a seizure, that child is on average not getting diagnosed until they're seven.
• 3:06
  Katherine: Um, but we can in reality provide an answer within 48 hours, um, or, uh, just within a few days or weeks.
• 3:15
  Katherine: Um, and it's.