0:00:00.165,0:00:04.185
So at the appointment, uh, we sat in a little room

0:00:04.275,0:00:08.745
where, um, Anthony was sitting between Mommy and, and I,

0:00:09.005,0:00:12.225
and they told us that it was, uh,

0:00:13.085,0:00:16.705
Chung-Jensen Syndrome, which both of us looked at each other

0:00:16.765,0:00:19.185
and like, we don't know what that is.

0:00:19.935,0:00:21.745
What is it? So what is it?

0:00:21.965,0:00:26.425
And since Anthony's more French than English, he listened in

0:00:26.645,0:00:29.745
but was not paying so, so much attention

0:00:29.745,0:00:32.105
because he was playing with mommy's cell phone

0:00:32.845,0:00:37.065
and out of the blue, he just looked up

0:00:37.065,0:00:41.265
and said, oh, that's why I don't understand everything.

0:00:41.535,0:00:46.065
Yeah. And he started to cry and that's when mommy

0:00:46.085,0:00:47.265
and daddy became emotional.

0:00:47.405,0:00:50.305
So I've been practicing in clinical genetics for 25 years.

0:00:50.845,0:00:54.505
So I've seen, um, the way the diagnostic care pathway

0:00:55.005,0:00:58.185
for rare genetic disease has evolved in that time.

0:00:59.005,0:01:03.425
And I have to say that this kind of innovation, um,

0:01:03.645,0:01:05.425
is incredibly exciting to all of us

0:01:05.425,0:01:08.465
because it means that we can help families sooner.

0:01:09.085,0:01:10.865
Um, 'cause I can't tell you how frustrating it is

0:01:10.865,0:01:12.785
to see somebody after 15, 20 years

0:01:13.045,0:01:16.105
and finally provide that diagnostic clarity when

0:01:16.165,0:01:17.945
so many things could have happened for

0:01:17.945,0:01:19.265
that child earlier on.

0:01:20.295,0:01:23.705
Less questions, less, uh, stress, less,

0:01:24.495,0:01:25.785
less blaming ourselves.

0:01:26.205,0:01:29.145
And just now that he can go right now in the special

0:01:29.445,0:01:33.825
school and all that and not going like three, four school.

0:01:34.245,0:01:35.425
So yeah, it would've put a lot,

0:01:36.245,0:01:37.745
lot less stress on Anthony.

0:01:38.285,0:01:40.905
So we used to store health information and paper charts

0:01:41.165,0:01:44.625
and imagine trying to find a rare disease patient by going

0:01:44.625,0:01:46.625
through all of these files and trying to read everything

0:01:46.725,0:01:48.825
and read the notes and, uh, read what's happened

0:01:48.825,0:01:51.025
to the patient because we've now digitized their systems

0:01:51.245,0:01:52.665
and care is being delivered.

0:01:53.005,0:01:55.585
Um, with electronic medical records, we're able

0:01:55.585,0:01:56.665
to access all that information

0:01:56.685,0:01:58.865
and have a, a computer to kind of look through,

0:01:58.865,0:02:02.425
crunch the numbers, and then come up with, um, you know,

0:02:02.425,0:02:03.585
the patients that we're looking for.

0:02:03.925,0:02:05.225
We are taking all of our, our,

0:02:05.245,0:02:08.025
our entire activation population, uh, which is

0:02:08.025,0:02:09.665
roughly 260,000 patients.

0:02:10.125,0:02:12.785
Uh, and we're boiling it down to just, uh, a handful

0:02:12.805,0:02:15.465
of charts that we then more thoroughly review

0:02:15.465,0:02:16.865
with the genetics team to see which one,

0:02:16.955,0:02:17.985
which patients should be

0:02:18.425,0:02:19.425
referred. Research studies

0:02:19.425,0:02:20.705
are very rigorous in terms

0:02:20.705,0:02:22.945
of the requirements and the parameters.

0:02:23.285,0:02:25.265
And by doing that, that then allows us

0:02:25.265,0:02:26.345
to have the confidence

0:02:26.345,0:02:29.545
that we can move it forward into a clinical workflow.

0:02:29.765,0:02:32.145
At CHEO we're really trailblazers in this area,

0:02:32.165,0:02:35.545
really looking at how do we take AI machine learning,

0:02:35.645,0:02:37.305
how do we take these new technologies

0:02:37.925,0:02:40.945
and apply them to try to answer these questions

0:02:40.965,0:02:42.745
and then move that into clinical workflows.

0:02:42.815,0:02:45.265
This research actually brought kind of a peace

0:02:46.365,0:02:48.185
in our house, a little bit of blood,

0:02:49.905,0:02:50.825
answered many questions.