Dr Jessie Jacobson

What's been really interesting about autism is, you know, we started off thinking it would be great because we know that early and accurate diagnosis has better long-term outcomes for those individuals.

And I think particularly with the sort of broad umbrella term, often it's very helpful if you can refine it down to something a little bit more specific.

And we've had individuals where if they have a variant in a certain gene, we know that as they go on in life, they might be at higher risk for other co-occurring conditions.

But I think the things that surprised me that almost mean the most to a lot of families is having an answer, like a really specific answer.

There's sort of an understanding about who they are or a better understanding of their child.

And I think that actually has been something I didn't really appreciate until we went through.

But equally, it's not for everyone.

And it's completely voluntary.

And I think it's one of those things that needs to be had in discussion with the community and why it's really important we have people like Ruth involved, because it's got to be done for the right reasons.

But I think the benefit can just be so transformational for families.

And in some cases, you can actually potentially find treatments that can help, you know, intractable epilepsy or things like that, which can then have a huge impact on quality of life.

The amazing thing is they go around the world and connect with other families.

They can share their lived experiences and they can figure out, you know, how they can, you know, what the future looks like, what things have worked for other people.

And I think that's a really lovely aspect that's come from it as well.

Yeah, often, not always, but overall, yes.

There's hundreds of genes that underlie autism.

Usually no one individual has hundreds.

There's usually one gene per person, if we can find it, a change in a certain gene in an individual.

That's a very simplistic view of it, but it means that they can connect and become experts and then they can tell the clinician, this is what it's like.

So it's a bit of both, actually.