So Matt, we have gone through a transformative time in medicine
with the advent of genomic medicine.
Why don't we start by summarizing what this means
and why it has been transformative.
Yes, yes we're just starting to see the beginnings of this,
aren't we?
It's remarkable that medicine has
come so far when all we've had to deal with
is recognizing the outward manifestations of disease--
with very little contribution from genetics
in routine clinical practice.
We know that any disease is the product
of the interaction between the environment and a person's
genetic makeup.
Up until very recently, we had lots of information
about those environmental factors.
But apart from a very small subset of diseases,
we were in the dark about the genetic contribution.
And so now genomics gives us the opportunity
to start to get that additional information.
And I think that that's the basis of the transformation,
isn't it?
It is, it.
Is and I think just for everyone to understand
what the benefits, I think it's important to remember
that being able to make a genomic diagnosis in a patient
not only very often can lead us to find a treatment that
is much more specific and sometimes curative
for the patient, but it also brings about very
significant, often intangible and appreciated benefits.
And I think many people with families that have had children
with serious disabilities understand the importance
of reaching a diagnosis.
Because conventional medicine often
hasn't been able to do this, and kids
go under numerous rounds of diagnostic assays,
and failed treatments.
So that closure with a label, the name of a disease,
can really decrease the anxiety enormously.
And importantly, it also very often offers
reproductive options to families that would otherwise might not
choose to have more children because of their fear
that they might have another child with a similar disease.
So genomic medicine can really change
lives of families and patients with genetic diseases
very significantly.
Yes.
So it's an exciting time.
And we're just getting a glimpse of the true potential, aren't
we--
looking at where genomics can be applied to.
At the moment, still a relatively small number
of cases.
Mostly those diseases that are caused
by just one gene going wrong.
But before the advent of whole genome sequencing,
many of those patients remained undiagnosed,
because we still didn't know where in the genome to look.
And now that we can look at the entire genome,
we can resolve those.
But there are lots of obstacles, aren't there,
still to be overcome, to realize the potential that we're
starting to get a glimpse of.
Would you like to outline some of those obstacles?
Partly, we need a very strong bioinformatic effort.
And we are only now developing the right tools.
I think there has been some effort in trying to establish
groups that have specialized bioinformatics,
but I think it needs a long term planning
with quite a bit of infrastructure and funding
dedicated to this.
It's important to emphasize that the genome is
quite a big thing.
So 3 billion signals in the genome, 3 billion
A, C, Ts and Gs.
Sometimes one of those 3 billion can be swapped,
and that's sufficient to have a devastating effect.
But of course, identifying that one in 3 billion
is really one of the major obstacles.
And as you say, the data management, the interpretation
of the data, which is achieved through
bioinformatics expertise is one of those big problems.
But then of course, we don't know too much
about the significance of most of those 1
in 3 billion changes, do we?
Particularly when they don't occur in their coding
parts of the genome, the 1% of the genome that makes protein.
Yes.
We do know that probably a significant number of them
lie in regions that had less well understood that determine
how the proteins are assembled together or are they
expression is regulated.
And obviously, the other big obstacle
is trying to understand how as you say,
genes interact with our environment,
and how infections, and environmental challenges
change the expression of some of these genes
or trigger some of these genetic defects to manifest.
Yes, yes.
Now I think it's important to acknowledge
that some areas have benefited more than others
in this very rapid race to genomic diagnosis.
Immunology has been one of those.
Do you want to explain a little bit why?
Well, clinical immunology is characterized
by a diverse group of diseases, which
is so typical of what we were talking about at the beginning,
where up until still the current time mostly,
we make a diagnosis based on a constellation
of clinical manifestations rather than understanding
the underlying mechanisms.
And this has been a source of frustration
for scientists, clinicians, and most of all, patients,
I'm sure.
That we despite our tremendous, understanding
of the immune system understanding
the mechanism of autoimmune disease
has been lagging behind.
But now as we're starting to tease apart the mechanisms
through genomics, then it has the potential
for enormous benefits, because as we know,
there are lots of precision therapies available to target
the immune system if we can just identify which patients
are most likely to benefit.
So just worthwhile making this distinction
between precision medicine, personalized medicine,
and genomics, I think.
So genomics is the method for identifying
the genomic variation.
Precision medicine is where we have a medication that is
targeted to a single molecule.
We bring those two together when we
can identify the patient that might benefit
from that precision therapy.
And then when we do that, then it
becomes personalized medicine.
And so at the moment, we've got lots
of precision medicine still which are being used,
but not in a personalized way.
And as we make further progress with genomics,
we can start to personalize that therapy.
And so yes, immunology is really ripe for this analysis.
And there is good evidence that--
I mean, we already know over 300 genetic causes
of autoimmune diseases.
And I would like to stop and make
a bit of a reflection on why have
we advanced so rapidly as well.
And part of it is because there's
been extraordinary basic science performed
in the field of immunology.
And we have to say that Australia
has been right at the leading edge of that research.
And I think it's important to acknowledge this
because without that preliminary work, that deep understanding
of immune cells, molecules, how they work,
we would never be able to make this definitive genetic
diagnosis if we didn't really understand
how these proteins work in many cases.
And I think that says a lot about also, this investing
seriously in basic science.
I think there is now a little bit
the risk that we are putting a lot of emphasis
into any type of research that is very applied that
has immediate outcomes, and why it is essential that taxpayers'
funding is directed to research that's
going to make a difference.
We would not be able to make a difference if there hasn't been
this very intentional investment in understanding
basic cellular processes and mechanisms.
And I think that if there's one message I would like
to leave here today, is that given that there's
been this very generous and important funding through MRFF
for very clinically applied projects,
that we think carefully about protecting seriously
funding for Blue Sky Research.
That we know we'll maintain this pipeline of discoveries,
that we'll make Australia still be successful
and at the leading edge, and making a difference
to patients in 15 and 20 years.