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Teri Manolio: All right, thanks. So this is where we were
around this time yesterday. We had heard a number of international projects. I was going
to go through the things we heard about this morning, but I thought since we kind of are
all focused on the working groups, let's do that first, and then we'll go back and recap
a few of the things.
So, as Geoff said, we're -- you know, we came into this meeting and nobody seemed to object
to the idea that we might come out of it with some kind of an international steering group
and working groups underneath that. The working groups that we identified for this meeting
are these five, and they're obviously the ones that we've talked about. I think the
question here, are these the right ones, and what did we miss? Is there some other group
that we need to include here?
And I realize people are tired. None of this, as Geoff said, is binding, and we will be
sending you summaries and things to react to. Please do respond to them, you know, when
you've awakened and that. But at least for the time being, it seems like this is a reasonable
framework to work around. As Geoff said, the leadership of this must be multinational if
this is to be a global effort. You probably didn't notice that the leaders of every working
group were American. We don't want that to be the case here.
Male Speaker: [inaudible]
Teri Manolio: Pardon me?
Male Speaker: [inaudible]
Teri Manolio: Yeah, Marc did try his best English accent,
and I don't think it fooled anyone.
[laughter]
Male Speaker: Oh, I thought that was a pirate.
Teri Manolio: That's right, that's right. "Argh." So we
do need volunteers to take some of the leadership, and there are a number of very enthusiastic
people in this room -- we won't pin you down at the moment -- but please give some serious
thought to taking on leadership. I think we probably want to have co-leads so that there
was more than one person. You could kind of back each other up. That one of those does
not need to be American; you know, really this something we want to be a global effort.
What might -- we then -- if we have an international steering group you need somebody, if you've
got a number of working groups, you need somebody that kind of keeps them on track, and watches
what they do, and interacts among them and that sort of thing. So, we might have a steering
group that probably would not be a committee of the whole, but perhaps a smaller sort of
executive group that really would just kind of monitor what's going on, identify directions,
maybe facilitate communications and interchange.
And actually, as Geoff and I thought about this, there are a number ways we could facilitate
communications; the observatory that was mentioned sounds like a wonderful thing, and we need
to learn more about that. But, you know, should we have websites and information clearinghouse?
Should we be pushing notices and news releases? We heard this morning that some of the news
releases that came from NHGRI would have been very helpful for you guys to have heard about
in other parts of the world so that you were prepared for them, et cetera. A newsletter,
you know, should we have a repeat meeting? And as we thought about this, probably would
be useful to have a communications working group or some other kind of synergy working
group and that. So that seemed to us to be something we would also want to add in here.
Would there be any objections to that? Does that seem like a reasonable thing to do? Yes,
sir?
Male Speaker: I would just suggest that part of the mandate
of that communications group would also be to liaise with other organizations that have
overlapping mandates --
Teri Manolio: Excellent point.
Male Speaker: -- I mean, there's Global Alliance, there's
IRDiRC, there's ICGC, et cetera, et cetera. We're creating another thing here, and we
want to make sure that we don't duplicate too much and we also harmonize what we're
doing.
Teri Manolio: Great point. Thank you. Tim, did you have
a point to make?
Tim Hubbard: [inaudible]
Teri Manolio: I'm sorry? Oh, okay. I think that's the right
spelling, so -- okay, great. So, communications working group, so we'll add that in. And then
we tried to capture what seemed to be the top ideas, although, despite, you know, Marc
was valiant in trying to identify us to the rest of you; I'm not sure we got them quite
as clearly laid out. And obviously even today's, you know, the first group, you probably want
to give some thought to that as to whether those were the top ideas. Laura, I apologize,
you know from preparing summaries like this that the last group is the one that you don't
capture because you're madly trying to put your presentation together. So hopefully we'll
get those from you. But it seemed as though there were probably -- I wanted to put them
all on one slide so that's why they're kind of smashed together like this. But these seem
to be the main ones.
So what I'd like to do now is really to get a sort of show of hands of people who'd be
interested in working in this, so that we have a kind of a feel for, you know, what
we might be able to move forward quickly, at least with the folks in the room. So we're
going to try this and see what happens.
So, in terms of defining key elements to be stored in the EMR, who would like to help
with that? Instead of the individual ones. We could do that. So how about IT? Who would
like to help with that? Okay, so we've got about six people, so I'm going to just give
myself some notes here. All right. And then in education, who'd like to help with that?
Okay. Okay. Super, thank you. Three. Thanks. In evidence? Who'd like to help in that area?
Evidence generation. Don't be shy. There you go. One, two; there must be more. No? Okay.
Evidence is hard; all of these are hard. Pharmacogenomics? One, two, three, four -- oh, pharmacogenomics
is going. All right, so four for that. Super. That's very helpful just, so that we have
a feel, but--
Male Speaker: Could you add economics?
Teri Manolio: I'm sorry.
Male Speaker: Can you just -- that would be my heard -- in
policy I heard was economics.
Teri Manolio: Okay. Cost assessment. And this isn't that
we would go forward with it, it's really just to get a feel for, you know, do we have a
critical mass? Okay.
Male Speaker: And there's some overlap because, again, the
global resource for actionable variants was also one of the important elements of evidence
generation. Economics is also an important part of evidence generation.
Teri Manolio: Yeah. Absolutely. Good point. So how about
--
Male Speaker: And every one of the groups wants people to
be able to get it in their area. So education will be more than --
Teri Manolio: Yes. Yeah. Right. Right. So how about the
policy area? Two, three, four, five, six. Good.
Male Speaker: Add one for George.
Teri Manolio: Oh, okay. Great. Seven. Super. Okay, that's
helpful. And I think something we also ought to keep in mind is that probably we can't
move forward any of these areas without the others, so they probably all do need to move
forward in some degree together because it sounded like, you know, much as was discussed
within the working groups is that you, you know, as Bruce was describing, you can't have
really great geneticists if nobody refers to them, and you can't have wonderful providers
if they don't have anybody to you know provide counseling and that sort thing so. All right.
Go back to this then.
All right, so I think those were the main kind of outcomes from this, and we'll talk
about next steps in a second. I did want to just go -- let me just stop for a moment.
Anything else about the working group summaries that -- tasks that we might go forward with,
that sort of thing, or missing? Eric, could you use a microphone please?
Eric Green: It relates a little bit to the recruitment,
and I think this is a good time to ask this question, and maybe you could do it at the
end. But I mean one of the things I think would be very helpful to hear -- people that
are in this room the last two days just happened to be people that we were able to figure out
to invite and that happened to be able to make it on the dates that we picked that were
available, but we are quite sure there are a lot of people out there that would be incredibly
interested in these topics, probably to be very active, that either we failed to identify,
or that we were successful at identifying but couldn't make it to this meeting at this
moment in time. How -- what's the mechanism by which we can network and capture and engage
those individuals, especially from other countries, you know, that we completely missed at this
particular meeting.
Teri Manolio: So might that be something that the communications
group --
Eric Green: Yeah, perhaps. Or --
Teri Manolio: Poor communications group, they're going to
--
Male Speaker: Something simple would be to ask this group
to recommend to others to be part of this.
Eric Green: Yes, yes, yes.
Teri Manolio: Yes.
Male Speaker: So, I mean, a simpler task, at least an immediate
one, was if any of you of individuals from either your own organizations or countries
that you've worked with that aren't represented here to email Teri or myself with the names
of those individuals and we'll be in touch with them.
Male Speaker: Thank you.
Teri Manolio: Okay, so let me just identify other members.
Identify other -- okay, so that's that.
Products we've talked about, we've talked about -- okay, good. And then going back,
then, to a little bit about what we heard this morning: This Global Medicine Alliance
was a really neat idea. It's a shame that George had to leave, but it was very cool,
and in many ways, they identified, I think, many of the components that we were talking
about here we needed to do. And what I think struck many of us was that they seemed to
be working on a smaller scale so that they're, you know, potentially more nimble and able
to address things.
And this reminded me, especially because we're late in the day, in the late '60s there was
a little film clip put together called "Bambi Meets Godzilla," and the reason I raise this
is that we wouldn't want to get, you know, a huge group or developed countries that have
policy and regulatory issues that are a major concern to really kind of squash this. So
for those of you who are not familiar with "Bambi Meets Godzilla," Bambi was a Disney
movie that many of us group on. We're totally traumatized when Bambi's mother died, et cetera.
But --
Female Speaker: What?
Teri Manolio: Yeah.
[laughter]
Male Speaker: Spoiler alert.
Teri Manolio: That's right. So if you haven't seen this
you can Google it and pull it up.
Male Speaker: Old Yeller [spelled phonetically]?
Teri Manolio: Huh? That's right. So the way this film goes
there's the, you know, very soft music playing in the background; this is Bambi and that's
Godzilla. And that's basically the end of the film.
[laughter]
And we want to be sure that the same thing doesn't happen to the poor Global Medicine
Alliance, who seem to be getting along just fine without us, but we could really use some
of their help.
One of the things that George suggested to us was potentially some of the break-out groups
might want to write a short report for -- he had mentioned a special issue of personalized
medicine that they were putting together, and might there be some of the break-out groups
-- I think policy was the one he was most interested in, but there might be others as
well. So something to think about for you guys.
When we heard about newborn sequencing, one of the key messages from that was the idea
that phenotyping data are not going to go away just because we have genotyping, and
that they need to continue to be used together. And we want to be careful in any of the kinds
of projects we're doing to recognize that these are additional data; they're not, in
any way, meant to be replacement data. So that seemed to be a key point. And we -- obviously
there were some visceral reactions to some of the regulatory issues that have been raised
in using new technology, but we need to recognize that they will be raised and we're going to
have to deal with them. So, that's that.
I thought this was an excellent point about press releases, and things that happen in
the U.S. have implications overseas, and is there a way for us to improve the communications
with you, and so I've been having an e-dialog with our communications group about how best
to do that. And maybe we -- you know one of the problems we have is that there are embargos
and other things that we can't break unless we're dealing specifically with press organizations,
but maybe there's a way through a newsletter, or a website, or pushing emails to you, or
something saying this is coming out, you know, you should be aware of it. I see some nodding
around the room; is that something people would agree would be useful? Okay, great.
Great. Okay.
And then there was interest as well in the potential for you know some of the international
pilot projects to maybe join some of the existing networks. It doesn't have to be NHGRI programs;
there are others that are going on as potential affiliate members, so that seemed to be a
take-away from this morning, too.
Any other -- anything that anybody disagrees with in what I've said so far? Okay. And anything
key to add to that? No? Okay, we're almost done, guys. And so then this brings us to
kind of next steps. Yes, sir.
Male Speaker: May I come back to the previous ones?
Teri Manolio: Please.
Male Speaker: It's about the --
Teri Manolio: Could you please, I'm sorry to make you get
up, but it breaks up the blood clots, so it's good for you.
Male Speaker: Sorry. It's about international projects;
I think also international guidelines. We should be working harder on putting the guidelines
together at the international level.
Male Speaker: Pertaining specifically for genetics and genomics
Teri Manolio: Yeah. Oh, and Godfrey --
Male Speaker: Hey, we got another volunteer. All right.
Teri Manolio: All right, Godfrey. All right, thank you,
Godfrey. We will write you down, so that's wonderful, okay. Good, thank you. Anything
else? No.
All right, let me just fix the spacing on this, just a moment here. Or that's not going
to work, so, that's fine. You can still read it.
So the next steps, what we generally do at these meetings -- this has been web-streamed,
and as soon as we can get the video presentations, which usually our communications group is
incredibly fast at this, and within a week, probably faster than that, they will be up
on the NHGRI website. We'll also post the slides, so we'll capture all of those, including
these summary slides. We will draft a summary -- actually, that's Jackie and Shane will
draft that and will put it together with Geoff and me, a summary that will probably be on
the eight- to 10-page length, and then a much briefer executive summary on the one- to two-page
length. We'll distribute both of those for all of you, or make them available so you
can comment on them, because we want to be sure we're all in somewhat agreement as to
what was said and what happened here.
We'll draft a white paper; we talked about this, I think, initially coming out of this
session, somewhat like the implementation road map thing that we talked about before.
We have to, you know, be careful in many ways not to sort of duplicate what's already been
said in those because many of the meetings come up with, you know, the same barriers
and that sort of thing. But kind of what's unique about international settings that we
need to be aware of. Obviously, there are ancestral differences; there are cultural
differences, those kinds of things. What we would propose is that the people who presented,
and those who were breakout leaders, I think that captures just about everybody who had
a major -- that they be the authorship. We recognize there were other people here, but
just to kind of make it a manageable group. And it's difficult, I think, to object to
that if you weren't one of those people. If you have any concerns about that approach,
please just send Geoff and me an email and we'll figure out a way to deal with it. Does
that seem like -- I don't see anybody -- you know, nobody's throwing anything at us right
now, so hopefully that will work. Not quite sure where it would go.
Yes, sir. You going to throw something at me? Oh, okay. Oh, you're coming to the microphone.
Male Speaker: Well, I didn't want to get yelled at for not
using the microphone.
Teri Manolio: Oh, okay. [laughs]
Male Speaker: There was some discussion about within the
working group about creating a publication around that specific area so I assume that
if that does go forward, we just run it through -- make sure you guys are aware of it, and
all that kind of stuff.
Teri Manolio: Well, and I think we would want to share it
across, and to the --
Male Speaker: Yeah, yeah.
Teri Manolio: -- degree that everybody wants to look at
it.
Male Speaker: Right, but there's no --
Teri Manolio: Stricture against it.
Male Speaker: -- pushback against the idea, okay.
Teri Manolio: Not at all. It would be wonderful because
there's no way that we can get at the richness of what happened in the working groups. And
we certainly want to capture some of that, so that would be great. And I think the other
thing to keep in mind is at least the journals that we've dealt with on meetings like this,
they really don't want to know what happened in the meeting. What they want to know is
what's, you know, what's important, what are the key things that a group of smart people
got together and agreed should move forward. So, it can change from what we said in the
meeting; we should all agree on it afterward. But somebody told me once that a good meeting
summarizer makes the meeting sound better than it was. So, you know -- yeah, oh, that's
true, it would be a challenge indeed, but as we, you know, move forward with these,
don't be afraid to embellish and improve and that, as long as everybody agrees.
So, draft the white paper, presenters, okay. All right, we need everyone here -- we will
send out a list of action items probably very soon because we want action items to have
action. So we need people to volunteer for working group leadership and to be members
of working groups, and we may, you know, tag some of you, but really, we would want -- love
to have volunteers. So that, again, would be something I think if you have email Geoff
and me -- is that okay? We will need at some point then to identify steering group and
working groups, convene them in some way. We should consider a follow-up meeting; there
seemed to be interest in that. Is there still interest in that?
Male Speaker: Was that a September meeting in Greece?
Teri Manolio: The September meeting in Greece, yeah.
Eric Green: Hand in hand with that point, although it
would fit to any of these, I just want to make the point that NHGRI convened this first
meeting to get this off the ground, but by no means do we intend this to be an NHGRI-driven
process. We welcome other agencies, other funding agencies, other organizations, other
international groups to join us as the organizational body. This is not saying we want to own exclusively.
We invited various other agencies we thought of, but then there's others that aren't represented.
I mean, again, we really are looking for partners in this. This is not saying we want to own
all by ourselves; it's not even appropriate for us to do this in the long run.
Teri Manolio: Excellent point. Yeah, and I think, too, we
really don't have the bandwidth. We're a small institute. Eric didn't tell you that we're
1.6 percent, is it?
Eric Green: 1.7.
Teri Manolio: 1.7 percent of the total NIH budget, so we're
teeny. But we do have -- and I didn't get a chance to introduce Andy Freedman and a
couple of the other folks from other institutes, NCI and that, who were here. We have other
partners through NIH, and we also, you know, need you guys to partner with us. Yes, sir.
Male Speaker: Yeah, there are a couple possible venues where
we could have some follow-up for this. One is that Canadian meeting that Pierre mentioned
to bring all the Canadian groups together. That's going to be in April. And I can - if
anyone's interested in using that as a way to get together again, please get in touch
with me. And the other possibility --
Teri Manolio: And you're Paul Lasko?
Paul Lasko: I'm Paul Lasko, yes. And the other possibility
is that the IRDiRC executives meeting around the European Rare Disease meeting in Berlin.
I think that's May 9th and 10th. So I'm sure we could work out some sort of satellite workshop
or something there.
Teri Manolio: It may be a little soon for those, but, yeah,
but those certainly would be places where people of -- like-minded people could get
together --
Paul Lasko: Precisely.
Teri Manolio: -- and identify additional things.
Paul Lasko: Yeah, not to bring this whole group to either
of those meetings.
Teri Manolio: Irene.
Irene Norstedt: I just want to raise a question, because as
soon word get out about this meeting has taken place, there is a number of other organization
in Europe I think we have five organizations dealing on different aspects of personalized
medicine, predictive medicine, et cetera, industry associations, et cetera, who I presume
would like to engage in this work, so how -- have you thought about how to deal with
that, because this could eventually grow as a very, very big endeavor --
Teri Manolio: It could.
Irene Norstedt: -- to include industry and all kind of learned
societies, et cetera.
Geoffrey Ginsburg: But in many ways I think it would be a good
problem for the field to have. I would suggest that -- well, one is that I would suggest
that we do communicate about this meeting. The white, not the white paper, but the executive
summary, I think, every one of us should take those back to whatever leadership we feel
accountable to so that they understand that this is happening, or even distribute it to
other groups that they think might have an interest. And in order to keep chaos from
happening, I think we need to try to, at least for the time being, establish, since we don't
have a structure yet, the structure is Teri and me for the moment.
Female Speaker: [unintelligible]
Geoffrey Ginsburg: [laughs] Try to funnel that information back
to us. When we have a more organized group of, let's say, call it a steering committee
or oversight group of an international membership, that would be the group that would receive
and hopefully coordinate some of these interactions you're talking about. But that's, you know,
so that will be at least a short-term plan, and we'll have to evolve that plan as we see
whether the level of interest you forecast happens -- does happen.
Male Speaker: Just last point, can I make?
Teri Manolio: Please.
Male Speaker: I think after this two days' discussion and
deliberations, I feel that it would be appropriate and useful to create an appropriate body or
platform in order to address all the issues because that is extremely important. And the
kind of issues we are addressing, the creation of that body is very important. So this is
my request, so maybe you can go on voting, or we may think what should be the structure,
the [unintelligible], and that sort of thing. Thank you.
Teri Manolio: If I might just ask you, when you say you
might just go on working, so the "go on working" is to collaborate with folks --
Male Speaker: Because, because why I say this is because
you have working groups, you have steering committees, but there must be some ethics
body. That is very essential.
Teri Manolio: That is essential, yes. Yeah. No, excellent
point.
Male Speaker: So what I think I understand -- if I understand
what you're trying to suggest is that we make sure that whatever is created out of this
is -- has a global accountability of some sort, I mean, and it's not decoupled from
whatever else is going, and I think we completely agree with that.
Teri Manolio: Okay. Other comments or suggestions? All right.
If I'm just going to capture that, global accountability. Okay. I think that's it, that's
my last slide.
So, at this point, I guess we're pretty much done. We have a reception coming up, which
will be outside, but I think the point I'd like to make, and I'll let Geoff close, is
really this has been a wonderful two days spent with you all. And people have worked
very hard, and, you know, here we are at five to 5:00, or God knows what time it is in your
home country, and so many people are still here actively engaged. So this is terrific.
We want to continue this, we want to capture it, and make it something that will use genomics
to improve healthcare which is why we're all in this business to begin with.
So, with that, you know, give yourselves a round of applause. You did a great job.
[applause]