Anastasia Wise: Thanks Paul.
And then our final speaker will be Wendy Chung.
Wendy Chung: So I'm going to take a somewhat provocative
stance but to try and emphasize that I think the UDP needs to skate to where the puck is
going to be, not to where it is now.
And so when I think back to when Bill started this eight years ago, it was absolutely necessary
to have something like this, but increasingly as genomic diagnostics has become I would
say almost standard of care, at least in some of the academic medical centers, I think the
UDP or UDN needs to really think about what it can do that adds incremental value beyond
what's going on with that.
And so in thinking of that, you know, insurance is clearly an issue, but I think many of you
know Signa already now has guidelines in terms of what is a covered benefit.
You know, if what indications will cover for instance exome sequencing.
So with that as being the first of the insurance companies to come up with, you know, I think
very rational guidelines for this, I think others are going to follow suit within that.
And when you see that happening, I think what's going to happen is this now comes out of the
center of sort of just even the geneticist or the geneticist at top tier academic medical
institutions to geneticists, and then to the other providers, so whether they be ophthalmologist,
cardiologists, gastroenterologists.
Increasingly it's going to be let's get beyond the diagnosis and let's get on to something
more interesting than that.
The diagnosis is going to be done by the laboratories.
It will be done as many of us have seen now within days.
So no longer even for instance weeks or months but within days to do that.
And I would venture to say that this going to be done either in terms of neonates, largely
who are symptomatic or presenting with problems, but even back up the bus, it's going to be
even done prenatally.
And so when you think about that I think in terms of at least on an exome basis, that's
going to be what the standard of care is when it's going to come up time for renewal for
this.
So what I look to the UDN for is, so what can you do that's even pushing the envelope
further than that, right.
What are the added things that you can do beyond that?
And you have the luxury of now being able to think very creatively and test things out
in terms of seeing what the added value is.
I don't know the answer to these questions, but as I was sitting here listening today,
I was thinking to myself.
So what is the added yield that you get from doing the metabolic evaluation?
I have no idea.
Is it one percent, is it ten percent?
But knowing that empirically is what we need to know.
All right.
If you do think about being able to do -- because your accessible tissue is blood.
I mean at least when I've done these experiments it adds a little bit but it doesn't add as
much as you'd like, because it's not always either the tissue or the developmental time
point that you'd like to be able to have.
But I don't know the answer.
How much does it add when you do that?
When you add a genome and -- instead of an exome, if I had to guess, I would guess the
yield is going to be about five to ten percent today over what we can get from an exome.
But again, I don't know.
You guys have the ability to answer those questions.
And I think for those of us in the trenches, we'd like the answer to those questions in
terms of knowing what the next steps.
What I worry about though is in terms of really increasing the yields, when I look at the
cases that I bring in for instance, if I take familial cases that clearly have a monogenic
condition with standard of care exome sequencing, we bat about 50-50, right.
So I can tell you, you know, it's -- because it's clearly to me going to have an answer,
we can get the answer about 50 percent of the time just with a standard clinical exome.
If we bring that in and reanalyze it using some of our more sort of pushing the envelope
tools and you know we'll look deleterious misinference or splice variance, we can get
another ten percent.
But we're still -- there's a gap that we're missing there, right.
So the question is what's going to fill that gap?
I would venture to say that it's not going to necessarily be the modest numbers you're
going to have from the UDN.
It's going to be about scaling this.
So we're talking about in terms of reference exomes or genomes to do this, you're getting
into the hundreds of thousands.
When we get up to those numbers, which will come with the -- you know, with precision
medicine, with things that are going on internationally for doing this.
I would venture to say that's when the yield is going to start increasing, because you're
going to start seeing the patterns that you can't by -- see in the ends of ones, but you
can see when you start getting to the ends of tens or hundreds to do this.
And so I think the question is how can you be prepared to be able to use all of that
information in the aggregate that's going to be out there.
And what I would look for to NIH is because you can actually leverage the investments
that go across your different programs.
How can you do that?
So between the programs that are the Caesar programs between what you've got and DB gap,
between what you've got in NICHD, NINDS, you know, all of your institutes.
How can we do that?
And as I look to being able to get access for instance to some of those data for instance
and you'll sort of don't bash the messenger, but DB gap is impossible to be able to get
the data from right.
So in terms of being able to do that and make use of the money that you've invested in doing
that, that's not a solution, I think, for the field to be able to move that forward.
And so what is the answer to that?
How can you leverage the investment you're sinking lots and lots of money in terms of
being able to do this?
But that yield is going to increase tremendously.
If people could simply get their hands on the data, still protect patient privacy and
being respectful of that, not, you know, sort of jeopardizing that, but being able to increase
the yield.
And so that's as I think about it, you know, those are the -- I think the opportunities.
Then comes the question as we have already heard about the functional studies, and that
clearly, I don't know how to get around it, that's the rate limiting step, I don't know
how to scale that besides even with throwing more money at this, but clearly at some point
that becomes a big issue, and I would love to see, again, in terms of a community of
the basic science researchers, everyone volunteer, you know.
Be able to get NIH again to leverage your investments in doing that, get your army of
researchers that would love to have a human disease to be able to be associated with the
gene that they love, be able to actually make that happen.
I don't think it's really all that difficult to do, but I do think those are sort of the
easy, you know, take the cream off the top in terms of quick wins that you could get
by leveraging the investments.
So thanks.
[end of transcript]