Tip:
Highlight text to annotate it
X
[laughter]
Eric Green: So, first thing is --
[laughter]
-- I want to thank all of you for coming. I also want to thank Marc Williams and Teri
for organizing this, co-chairing this. I want to thank Geisinger for handling a lot of the
logistical aspects and really hosting this in many ways. I would also point out that
it's a good thing we decided to start this when we did. Originally, we were going to
start this a little later to allow some of us from Washington to fly in this morning.
The federal government's officially closed, in case you didn't know this, right now. Not
because of the fiscal cliff, because of a little teeny bit of ice in the Washington
D.C. area. So we're actually closed in the D.C. area until noon, but fortunately, all
of us decided to come in last night, so we're here and we can get going.
It is interesting to look out at this group and see how it has grown. I think the origins
of this meeting, this gathering, was Geoff Ginsburg telling us once in an advisory meeting,
wouldn't it be great if we started getting together? And then we had Genomic Medicine
I, and it was a reasonably modest sized group, and it's grown, II, III, IV, and so forth.
I'm projecting by the time the -- the way the field is going and the way this group
seems to be expansive in its thinking, which I love, I'm pretty sure by Genomic Medicine
X we're going to have it in Madison Square Garden or somewhere that will be a massive
venue. It's amazing to see the depth and breadth of people interested in this, and I think
you can see from the agenda, we won't disappoint.
The other thing I wanted to point out from the point of view of the National Human Genome
Research Institute is a subtlety, but I think it's relevant, and you're going to see it
play out a little bit during this meeting with some of the people you interact with.
The origins of this were very much around Genomic Medicine narrowly defined, coming
out of things we were talking about programmatically we were going to be doing, especially under
Teri Manolio's leadership. I'm not going to give you many of the details, but this previous
October 1, the Institute went through a fairly substantial reorganization, the first one
in a very long time, and we created a whole new divisional structure that really, I think,
better defined what [inaudible] very broadly in Genomics. And the reason I raised that
is Teri is the director of one of our divisions, the Division of Genomic Medicine. But the
issues and topics and things being discussed at this meeting really are not solely in her
division. In fact, many of the things we're going to be talking about here are very relevant
to some of the other divisions. Laura Rodriguez is right here ,who's our director of our Division
of Policy Communication Education and several of her members of her division are here. You're
going to be hearing from some of them.
And then, meanwhile, I'm even going to have a few remarks to say about some of the things
going on in our Intramural Division that I think are relevant. And I think some of the
other divisions are going to -- so I just want to make that point because our view is
expansive and I think our structure very much reflects that, and with time, on some of these
topics, you're going to hear about an update from another meeting that somebody -- that
Derek Scholes will be talking about later. You will see how different parts of the Institute
might be adopting and running with issues and topics that get raised at venues like
this.
So if for my talk what I wanted to do was just to fill in the gaps in many gaps [spelled
phonetically]. I know what some of the other members of the Institute talk about throughout
the next two days [inaudible]. I was already given table scraps, if you will, but they're
good table scraps. They're [inaudible] topic are not being heard by others, but people
told me, oh, you really should make sure to say a few words about [inaudible] because
we're not covering it.
So these are the four things that I want to just give you some brief updates about to
set the context. They are a little bit all over the place. The last one, in particular,
is fun because I thought it would be good to have a fun topic at the very beginning
to get everybody all energized, although the other stuff's pretty exciting, too.
Let me just remind you when I want to start with our education efforts, and, needless
to say, this is something that's been relevant to the Institute for a long time. Many of
you might have seen this recent cover and story in Genome Technology that focused on
education as it relates to physicians. The fact of the matter is NHGRI has been interested
in genomics education broader -- more broadly defined than just physicians, and even within
the healthcare setting, more broadly defined than just physicians. I would actually tell
you that it's an important component of our overall mission and is very much in line with
telling you about our reorganization. There are elements of educational programs that
are found in different components, different divisions, different sub-parts of our divisions
and so forth.
We really regard it as a long-term goal to advance the understanding of health care providers,
broadly defined, about advances in science, and technology, and evidence development,
and this very much will be relevant to some of the things we'll be talking about throughout
this meeting. And clearly, we recognize that these educational efforts, whoever carries
them out, and we probably will only carry out a small fraction of what's going to be
required, it's going to be critically important to ensure productive utility of genomic information
for clinical care because of all the complexities of genomics and all the different ways that
it touches.
When you read our strategic plans, either in 2003, or more recently in 2011, our most
recent strategic plan, we talk about some of these ideas, obviously in very simple terms,
recognizing that there's a lot of complexities that need to be worked through at venues such
as this.
Our efforts and the resources that we've created have been several, and just a subset of which,
at least the major ones, are shown here. Some of you might be familiar with the G2C2 resource
repository that's had curriculum and other resource materials for genetic counseling
education, nursing, physician's assistant; coming soon will be for pharmacists. And that
has served as a venue that has been useful for individuals in the community. Our talking
glossary has received quite a bit of utility around the world as a product of our education
branch within one of our divisions. The case scenarios being created within this new G3C
resource which will be transdisciplinary in nature and is -- will find usage of value
to many individuals.
And then, most recently, we have an ongoing series, again from within one of our divisions
sponsoring and actually involving many people across the Institute in partnership with Suburban
Hospital and Johns Hopkins University. We have a series of Genomics in Medicine lecture
series held in a small auditorium in Suburban Hospital but videotaped every single week
that it's held, and posted on our genome.gov and also our GenomeTV channel of YouTube,
and getting extensive amounts of usage. So, again, we look for opportunities for these
sorts of outreach and education efforts.
And so these are the kind -- and then meanwhile, in terms of the literature, we've had various
involvement over the years in terms of getting information about genomics, and genomics education,
and genomic medicine out in the clinical journals. Greg Feero and I wrote an article a couple
years ago for an education issue of JAMA. Some of you might be familiar with our New
England Journal of Medicine series that members of the Institute co-edited for a number of
years. And then a special issue that's pending, a genomics issues in Journal of Nursing Scholarship,
Jean Jenkins has been heavily involved in; that will be coming out quite soon.
So those have been just sort of a flavor of our education efforts, but we look for audiences
like this to tell us what are the other priorities we might be interested in supporting or looking
into in the future.
Moving on, then, again, to complete change of topic I wanted to -- I was asked to say
a few words about the Undiagnosed Diseases Program which originally grew up exclusively
in the Intramural program of NIH and we hosted it within NHGRI. For those of you who are
not familiar with this program, it is a program that aims to assist patients with unknown
disorders reach an accurate diagnosis. These are these tragic cases where have gone from
hospital system to hospital system unable to come up with a diagnosis, and they contact
NIH, in this case so far, to the Intramural Program for rigorous workup, often extensive
genomic characterization in an attempt to identify the disorder affecting that individual.
And the goal also includes discovering new diseases that provide insight to human physiology
and genetics. To date, over about 500 patients -- these numbers are actually old -- over
500 patients have been evaluated at the NIH Clinical Center, definitive diagnosis over
39 at this point, and at least 16 new human genetic disorders have been identified.
The Undiagnosed Diseases Program was a pilot project that was viewed as a experiment to
see what it was like, and I think it was widely regarded as being extremely successful, and
so successful that when it came time to evaluating its [inaudible] that it was important to expand
it, put it on longer term financial footing [inaudible]. The decision was made by the
NIH leadership to move it out of what was basically a temporary budgetary circumstance
over a pilot phase, and to make it a Common Fund project, part of the NIH Common Fund.
And that, indeed, is exactly what's happening, and we're right in the middle of that transition.
A commitment over $145 million over a seven-year period, at least initially, for Common Fund
support, involved not only continuing to support the Intramural UDP Program, but [inaudible]
expand this to a national UDP network. And, in fact, that was a strong urging of an advisory
group that we convened, an external advisory group that had been helping us with the Undiagnosed
Diseases Program, and we were fortunate to be able to identify resources to make that
a reality.
It is envisioned the creation of a network of something like five to seven -- oh, by
the way, needless to say, all Common Fund projects have to have institutes help coordinate
and run them, and NHGRI is one of the three lead institutes and centers involved in leading
the Common Fund. And, in fact, we have people here from NHGRI who are heavily involved in
coordinating this and programmatically developing this as it becomes reality.
Along the way, the idea is to create this as a network and to have more robust, having
a group of [inaudible] involved in this and improving the data storage access and analysis,
both the phenotypic data, clinical data, and especially the genomic data coming out from
the studies of these individuals.
It also -- it will be an arm that will involve researchers to elucidate the mechanisms of
disease. Oftentimes they get down to the point of having a gene identified or having a genetic
defect having no idea what the basic science mechanism that lead to that disease. We want
to facilitate those studies [inaudible] -- involves training and fellowship programs for rare
disease diagnostics that are in the early planning phases.
And so those of you who are interested, and some of you might be familiar with, there
is an RFA that recent applications came in on for the creation of a coordinating center
that will be coordinating this network. An upcoming review is pending. And then [inaudible]
RFA [inaudible] program announcement right now involves facilitating gene function studies
to investigate rare and undiagnosed diseases, and the receipt date is coming up later next
month.
So stay tuned; there will be more and there -- anybody who's interested in learning more,
there are people here like Teri Manolio, Gene Passamani, who could tell you many details
about this and point you in the right direction as this rapidly evolving [inaudible] takes
place.
On to a third, again, interrelated but seemingly eclectic topic, I also wanted to tell you
about another major development going on at NIH which, I think, touches things in genomic
medicine, but it's far broader than genomic medicine, and it relates to the [inaudible]
big data computational biology, bioinformatics, the recognition of one of the areas of greatest
impedance mismatching between the ability to generate data and being able to analyze
it. And here there is some breaking news that I can tell you that some of you will be interested
in, either because it will directly affect you or because you will recognize this as
sorely needed in biomedical research right now.
[inaudible] I think all of you would agree the largest bottleneck in biomedical research.
Pick your data-related metaphor, and there's many metaphors. It's either the data coming
out of any of these new technologies be it sequencing technologies or [inaudible] technologies,
it's like drinking water from a fire hose, or is it like a tsunami a data, or whether
it's an avalanche of data, pick whatever you want. The truth is, us here -- those of us
in biomedical research and clinical research find ourselves in the big data era. Once upon
a time, just for climatologists, once upon a time, just for particle physicists, now
we're here, and it is an awkward place to be at this moment in time where we can generate
data far faster than we can analyze that data.
Now I stand here, obviously, speaking as a genomicist, and clearly, genomics is one of
the many types of data that's creating this big data problem, and it's not just genomics
when it comes to this NIH bottleneck. There are other omic technologies that are coming
forth. There clearly are imaging technologies that have greatly accelerated the pace of
generating data, either at a cellular level or an organismal level, or [inaudible]. Clearly
phenotypic data, something I know many of you are interested in, and exposure data,
especially as technologies become better, and then clinical data, which, of course,
is very relevant.
Recognizing the importance of this area and NIH feeling overwhelmed about this, Francis
Collins appointed a working group of his advisory committee to the director about two years
ago now. And for a year they studied this, and then about six or eight months ago, they
formally issued a report, which is at this URL if you're interested in reading it, the
report of the Data and Informatics Working Group.
And the bottom line is there are major changes that are now taking place at NIH because the
recommendations of this report. We are tackling the Big Data Program -- the big data problem;
I'm happy to tell you about this. First [inaudible] leadership position that we'll be recruiting
for is something called an associate director for Data Science. I have actually been asked
to be the acting director in the interim, but we'll be launching a search; it's a very
high level leadership position [inaudible] to the NIH director. There will also be creation
of a new group at NIH, internal to NIH, called a Scientific Data Council that will be responsible
for many things, including strategic planning in the area of big data, broadly defined,
and will also be responsible for a new trans-NIH initiative known as Big Data To Knowledge,
which will be a new program that will be jumpstarted by [inaudible] in the long run over a seven-year
period will be completely supported by contributions from all of the institutes recognizing this
as a trans-NIH problem. [inaudible] initiative which will begin next fiscal year will have
four major components, I'm just going to touch on them, recognizing that there is a lot under
the hood here, and I'm happy to talk to any of you about it at break.
Major programs [inaudible] and policy changes to facilitate broad use of Biomedical Big
Data. Developing and disseminating analysis methods and software for Biomedical Big Data.
Enhancing training for biomedical big data that would include kinds of data we'll be
talking about here. And also establishing Centers of Excellence for Biomedical Big Data.
So these are all things that you can imagine, if it's starting next fiscal year, we're going
to be very active in getting off the ground if the funding starts then; that's not that
long from now. And so, needless to say, you can stay tuned, and you will be hearing much
more about it. The good news here is there's a major commitment, at times a fiscal constraint,
there is a major trans-NIH commitment to try to fix the big data problem in biomedical
research, and we're going to be doing this in a very aggressive timetable.
Finally, and I think I'm one minute away from getting the finger from Teri Manolio, I'm
going to -- and on a very happy note [inaudible] exciting things going on in 2013. Why is 2013
exciting? It's a celebratory year for us. Recall it'll be the 60th anniversary of the
Watson Crick double helical structure discovery and description, and the 10th anniversary
in April of the completion of the Human Genome Project. Recognizing this as a marvelous time,
especially other things being tough these days, we need to celebrate, we need to embrace,
we need to talk about this remarkable -- especially the 10th anniversary of completing the Human
Genome Project.
There are many things the Institute is planning. You may want to look at this URL; this website
is now live. And it talks about a lecture series that we're going to be having at NIH,
an all day symposium in April; all of which will be video cast and videotaped and video
archived. All of you will be able to see, and there'll be some -- I -- we've lined up
terrific speakers for all of this and [inaudible] that will be happening.
In particular, though, what I want to tell you about is this new partnership that we
have with the Smithsonian Institute, where there will be a genome exhibition that will
open in June of this year. This exhibition [inaudible] of pretty [inaudible] design;
a representation of it is shown here. It's at a very advanced stage of design. In fact,
in my hotel room's the 95 percent design that I'm reviewing actively. And it is going to
be fantastic. It's going to open at the Smithsonian's Natural History -- National Museum of Natural
History.
Vence Bonham is here at the meeting and he is spending over 50 hours a week working on
this project, and he and his staff, it's been a marvelous [inaudible]. And I can tell you,
we got a shout out in Nature at the beginning of this year, first issue; they talked about
one of the exciting things happening in science and art, and that's this exhibition. And in
addition to this exhibition I will tell you there will be significant amount of education
and outreach planning on programmatic activities under Vence's leadership. A lot of web resource
materials and so forth, and it's going to be spectacular. So I want everybody in this
room to commit that they will come to Washington, D.C. sometime after mid-June of this year.
It will be at the Smithsonian, Hall 23, just 23 pairs of human chromosomes, easy to remember.
[laughter]
Right next to the Hope Diamond, hard to forget, just follow the crowd and come see our exhibition
it will be there for one year, after which it will travel for about four to five years
around North America. One of the coolest things I've been involved in, and I've been involved
in some pretty cool things. So this has been a lot of fun, and we're happy to tell you
more about it, but I wanted to end on that note.
So, I will stop there and I'm happy to take any questions, thanks.
Marc Williams: Thank you, Eric, we may have time for one
or two very quick questions.
Eric Green: Yep.
Marc Williams: Seeing none --
[laugher]
Mira, why don't you go. [laughs]
Eric Green: Finger too [spelled phonetically]
[laughter]
Marc Williams: You can definitely catch Eric throughout the
meeting, so please do so.
Mira, you can go ahead and go up.
There is one other person that we should highlight that we didn't, and that's Gene Passamani,
who introduced himself. He is with NHGRI, and he really has been key to pulling all
the organizations together and organizing them; will be working to summarize the output
of the meetings. So we wanted to identify him as a key contributor, so thank you, Gene.