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Rex Chisholm: -- many of you yesterday from potential partner
sites. We still need to work on identifying infrastructure needs. There was a fair amount
of discussion yesterday that overlapped with the need for databases and data sets that
allow us to especially characterize variance; especially ones of unknown significance, at
least to know that they've been seen before. And then, to establish mechanisms for sharing
of best practices; and I think we haven't really had much time to talk about that. I
think maybe there will be a little bit of that in the panel that Pearl [spelled phonetically]
will run this afternoon or the end of the session this morning.
Highlights from yesterday; I think just to get people reflecting on some of these. I
thought the session from institute with institutional leaders was pretty useful. I think a couple
key elements that we heard were that if you can make genomic medicine part of the institutional
strategic plan, that's an especially valuable thing to be able to do and I think we heard
also that the ability to demonstrate value and especially in the cost arena, is something
significant. So, I think that's something that we all really need to be paying attention
to as we do our science, is to think, are there sort of cost arguments that we can make
that help play.
And, I particularly liked Joanne's [spelled phonetically] comment that genomic research
needs to be part of the cake and not just the icing. I thought that really set the stage
pretty nicely. One of the things that we've thought about is -- it might be actually particularly
useful and maybe Mary [spelled phonetically] and David [spelled phonetically], you can
carry this message back; if they would even consider perspectives piece that could be
published that would talk about the value of genomic medicine institutionally and what
the issues are that need to be thought about.
We heard about a number of collaborative opportunities yesterday. I'll just run through the list
of these; pheochromo-cytoma [spelled phonetically] oral microbiome family history tool. In the
area of pharmacogenomics, we heard about the sepic [spelled phonetically] recommendations
and the need to go ahead and make sure that as many as the places as possible are really
starting to think about how do you implement those recommendations. I think Howard [spelled
phonetically] certainly argued that they were ready for prime time and so we should be doing
those. We heard about the 1,200 patient project and the opportunity that as it moves from
phase one to phase two there'll be some new opportunities for folks. And then, we heard
from Allen [spelled phonetically] that pappy two is about to launch and they're looking
for participants as well.
In the sequencing area, I'm not sure really how to translate these into collaborative
opportunities if any of the three of you that presented yesterday have ideas, it would be
great to hear about those, but we did hear about the Milwaukee principals in Howard's
presentation. I think just thinking about those principles that they're using to figure
out what projects are ready to be pursued makes a lot of sense. We heard from Scott
[spelled phonetically] about the Partners Cleo Lab [spelled phonetically] and whether
that's something that would be willing to take external users, is something that would
be interesting to hear about. And then obviously we heard about the exome server at UW and
some of the projects that are ongoing there. So, I think all of those are things we probably
want to keep in mind.
Finally, I think we came away from yesterday with at least a few action items that we could
think about. One idea that seems pretty interesting is to think about bringing together the CEOs
of health systems around the area of genomic medicine, helping make them better aware of
it, having some discussions about the value genomic medicine may bring. I think that most
of us are believers that this is a cost saver potentially and I think that argument needs
to be made. We keep hearing over and over again, the role
for the patient in this. Whether its patient portals, whether its patients as advocates
for the research itself, whether its patients that are part of the solution to help us get
beyond the problem of why we may not be able to do stuff because the IRB doesn't want us
to. I think if the patients were able to weigh in more on some of those issues, that would
make a huge difference and we need to think about mechanisms to achieve that.
We heard, especially from Howard, the discussion about in certified software for sequence analysis,
and that's probably a fairly lengthy discussion that needs to be had. And then, demonstration
project showing cost effectiveness and utility; and maybe we'll hear about some of those in
the break out session reports.
So, the goal for today then is we are going to hear from a few additional genomic medicine
projects that we didn't have time to fit in yesterday. We'll get the break out session
reports and hopefully from there, a few more action items to take away from this project.
We're going to have -- I think it will be a very interesting discussion about navigating
the boundaries between research and clinical care. And them, we're going to conclude by
seeing if we can pull some of this together in an open discussion with everybody that
will help us frame what next step should be for genomic medicine going forward and especially
to have some discussion about what the meeting that's currently scheduled in May for Chicago,
tentatively called "Genomic Medicine III," very creative title, would focus on. So, that's
what we're about today. We have a couple of minutes, if anybody has any comments they'd
like to make about observations they made from yesterday, or if there's an action item
that people would like to put on the list that I didn't have.
Silence.
Female Speaker: You can always count on me to fill the silence.
So, I'm wondering if, you know, what you described as the "Milwaukee Principles," which I really
like, might be something that we could get the Milwaukee Group to sort of codify for
us and share around. Would you guys be interested in doing that? That would be fabulous. And,
I also should mention that in terms of the approach that they have for selecting patients
for sequencing, I believe that was what you were --
Rex Chisholm: Yeah. Anyone else?
Female Speaker: Eric [spelled phonetically] just mentioned
and maybe I'll --
Male Speaker: Yeah. Hey, Bill. Bill, since you happen to
be here, I don't know if you heard the talk yesterday or not, but it might -- and I'm
not saying we need to do this now, but it might be interesting to hear a compare and
contrast at some point. Again, I'm not sure this meeting even is the time to do it; sort
of how Milwaukee's Group came up with sort of the criteria they used for applying genome
sequencing approaches for their diagnostic odysseys and compare that in contrasted to
the undiagnosed diseases program and the approaches that you're using here at NIH for making decisions.
Not only about which patients to admit, but then which ones of those might a genomic approach
be helpful. So, it might be interesting to compare and contrast and there are other groups
that are doing similar things. I'm not saying we're going to do that now, I'm just putting
that on the table, it might be interesting.
Male Speaker: I'd be happy to engage in that. I think though,
our plan is not codified [inaudible] --
Male Speaker: Yeah, that's what I thought might be -- and
while I have the microphone and while we're making lists, and maybe Les [spelled phonetically]
and Bill, since you're both sitting next to each other, I would think immediately of you.
One of the things that came up at the dinner I was at last night, and I don't know where
we will fit it in today, but some people were asking me, as we think about possible collaborative
ventures that might come out of this group or things we might want to try to contribute
to some consortium efforts. Not surprisingly, some people don't understand all of the nuances
of the NIH Clinical Center and ask the question if we come up with some ideas for some things,
what role might the clinical center be able to play in some sort of consortium collaborative
effort. And, I don't mean at some point, and we have to figure out where to do -- if one
of you could just give a five minute explanation of what goes well at the clinical center and
what doesn't; how they might play a role in some collaborative thing -- maybe people would
just get a chance to ask questions, because again, for outsiders, sometimes the nuances
of the clinical center could be complicated, but they're easy to answer. So, you guys are
going to be here in the morning, you know, some time we'll try to get five minutes about
Male Speaker: Do you have a date for the May?
Rex Chisholm: Yeah, May 4th and 5th -- 3rd and 4th.
Female Speaker: And, it's going to be in Chicago.
Rex Chisholm: Chicago. I think this -- I don't know if the
site's set yet, but in Chicago.
Male Speaker: Back to your side of, I think it was Howard's
[unintelligible] forward this notion of certified software so, obviously the analysis component
of this is critical development for standards is important and minimum standards of performance
in a clinical lab setting, but the notion of certified I think, is incorrect here so
certification related to software would be an F.D.A. issue, only when you get to the
point of something being totally kitted. At the moment we're talking about everything
in a CLIA laboratory environment. There's no such thing as CLIA certification on the
software analytical component. The laboratory is certified. The laboratory has to demonstrate
how they do their analysis. It all has to be documented and validated internal to the
laboratory and creating a discussion towards standards with the appropriate professional
societies and the laboratories. Doing this would be a great thing, but I wouldn't use
the term certified software.
Rex Chisholm: Noted. And, maybe that's an example of sharing
of best practices as people develop documentation around particular pieces of software. If other
labs were using that same software, that documentation might ease their pain in terms of getting
their documentation going.
Male Speaker: Is actionable software all right?
[laughter]
Rex Chisholm: Oh, Mark [spelled phonetically], don't create
trouble. Anyone else? All right, well -- yes, Terri [spelled phonetically].
Female Speaker: I do have to make a little reminder to my
federal colleagues who had lunch yesterday. You do need to pay for it. There's no such
thing --
[laughter]
Female Speaker: So, anyway, Mark Graves [spelled phonetically]
who is sitting outside would be happy to take your cash. Yes sir?
Male Speaker: So, I have -- in terms of other places where
we could potentially collaborate from the signature groups [inaudible].
The other place we could share or combine groups from the sequencing side would be to
share sequence genomes. Many of us have sequence genomes, so I think, is there a way to set
up, if nothing else, a repository where you can put genomes in and you can then use that
as a comparator. So, that's another place I think we could, as a group, share.
Female Speaker: And actually, Eric reminded me, we are trying
to do something like this NIHY to bring together all of the sequence, you know, projects throughout
NIH which is good 60, 70,000 people so far, and climbing. I mean, it's really really going
up quite a bit. NHOVA has already done this, I think, with the exome server?
Male Speaker: The exomes, most of the, all of the exome
sequences admitted into the [unintelligible] and they're coming out by -- but all of the
data, as far as the frequency?
Female Speaker: On 5,400 individuals, that's more than 10,000
human chromosomes, is on this exome server. I could send it to Terry or to Rex [spelled
phonetically] and they could send around a link for this if you want.
Male Speaker: Great. It was in Gail's [spelled phonetically]
presentation yesterday, but send the link, for sure and we'll share it.
Female Speaker: Did you have a good Google search, you know.
Female Speaker: Yeah, if you go exome variant server, you'll
find it.
Female Speaker: Or, even Seattle Seq. Just Seattle S-E-Q.
Female Speaker: You could link to it many ways.
Male Speaker; But, Howard, to answer your question directly,
this has not escaped the attention of NIH leadership that the opportunity absolutely
have to be used into this area. And HGRI [spelled phonetically] has been asked to take the lead,
but we have partners and many others, we have a whole working group of individuals from
other institutes whose already been -- lots of planning, there is a workshop we're going
to be having and its going to get, it obviously needs some funding to make a robust infrastructure
be built, and we don't know where that's going to come from; we're working on that. But,
we completely agree with you and we hear this loud and clear from multiple different people
that it would be very helpful to get not only all the data in one place, but maybe some
of the software tools that are very routine for analyzing new sequence data, comparing
it large data sets and so forth.
Male Speaker; I think what Howard was -- if I understood
correctly from our group, we were talking about something a little bit more than just
variant calls and data, and that set of samples for which there was probably even availability
of everything from DNA to reads to interpretations et cetera so that people could compare not
only sequencing, but interpretations of raw data on the same set of samples and validate
each other's processes and systems.
Rex Chisholm: Yeah, I assume, Howard, we'll hear more about
this in your report from the breakout session, so maybe we can defer that.
Male Speaker: [inaudible]
Rex Chisholm: Yeah, we'll hear this in a few minutes. We
probably should move on and so, first on the agenda today is Eric Topol from Scripps, who
will tell us about what's going on at Scripps.