Norman Swan

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?

So you found genetic counselling was important in terms of the family implication.

But my original question was about actionable, you know, changing treatment.

And does it give you any clue as to why the mutations occurred subsequent to the germline?

So in other words, what triggers this change into cancer?

For parents listening who may have children and may have children with cancer...

Is this strong enough evidence now for this to be standard of care?

A child gets cancer and you do a full genome on the child?

What about the interpretation?

My understanding is when you've done a full genome, it's not necessarily obvious what's going on.

And in some places you get a panel of experts going through the genome and saying, yeah, that's significant and that's not significant.

Is there a sort of downstream implication of this that it's not just like a high cholesterol?

So let's move to adults now.

Why would it be any different from adults?

I mean, this is a thing that has driven me nuts with oncologists is...

They might do a panel of maybe 300 genes on you if you've got cancer to look for what they call an actionable gene.