Norman Swan
π€ SpeakerAppearances Over Time
Podcast Appearances
What do you find?
And does it make a difference?
And what they found was it does make a difference.
And in some kids, quite a lot.
And it makes a big difference to families.
And the researcher I spoke to as the lead author on this paper is Noemi Rosenthal.
Fuentes BolaΓ±os, who is a paediatric oncologist and clinical scientist at the Children's Cancer Institute and the Kids Cancer Centre at Sydney Children's Hospital.
And what are these poor prognosis cancers?
So you went looking much more broadly and in an unbiased way to see what else was going on in the genome.
What did you find?
How much higher does it go?
What oncologists talk about are actionable genes.
So genes that actually make a difference.
You might find that there's a drug that's susceptible when you've got this genetic change that's a surprise that you wouldn't otherwise use.
So of these surprising findings on the germline, which increase the proportion of children where you find a genetic mutation, what proportion were actionable that you found that there were drugs that could have helped the child that you wouldn't have otherwise used?
So it's a bit like BRCA in adults, where you can have in women breast cancer, but if you've got the BRCA, you're going to be at risk of ovarian cancer.
So knowing that you've got the BRCA is important.
And it's important in dads too, isn't it?