NHGRI’s Implementing Genomics In Practice (IGNITE) Consortium – Geoffrey Ginsburg

NHGRI’s Implementing Genomics In Practice (IGNITE) Consortium – Geoffrey Ginsburg


Geoffrey Ginsburg:All right. We’re running
about 10 or 15 minutes late, so I will prevent you from eating your lunch for the next 15
minutes. So, I’m going to talk about one of NHGRI’s newest consortia called IGNITE, which
this acronym causes a lot of consternation amongst Teri Manolio — [laughter] — who fails to remember what it stands for,
so I can take the blame or the credit for that. But it has — it’s a really cool logo,
and I have to give credit to the University of Pennsylvania crack artist staff for making
this acronym for IGNITE. The IGNITE Consortium really emerged out of
the need to address issues and the right to domains that you saw from Eric Green’s presentation
yesterday of — on NHGRI’s strategic plan is how do we really think about taking reasonably
well-validated genomic technologies and putting them into medical practice, and do they actually
work in a way that produces desirable outcomes amongst patients and other stakeholders? So, coming out of our first and second GM
meetings — genomic medicine meetings — of which this is the sixth, as you recall, one
of the things that the group came together to discuss is whether there could be some
pilot demonstration projects. And I think that meeting, if I recall, was in late 2011,
and it was — no, late 2010, and RFA came out in early 2011, which is stated — which
you’re seeing here to really propose projects that would develop methodology, feasibility
for incorporating genetic and genomic information into the care of a patient, and see if that
actually translates into outcomes. So, the IGNITE network was established after,
as you’ll see, three projects were funded. The goals of the network were to build on
existing activities that were taking place at various organizations that we’ve learned
about through this series of meetings and see if we could expand those in meaningful
ways, not just in academic medical centers, which have a significant amount of expertise
and capabilities, but in other environments where the challenges may be greater, diverse
healthcare environments, underserved populations, rural populations, et cetera, I think is among
what this network is trying to address. So it sort of levels the playing field for genomic
medicine; and in doing so, to build a better evidence base for the clinical utility of
these technologies. And through our — the network’s efforts to articulate some best
practices, both in the area of implementation science but also the area of how to design
studies that would actually be best used to generate the kind of evidence that we are
striving for for things that we’ve heard about today and over the last two days. So, this is a snapshot of this consortium,
and by the way, I have to tell you I’m not going to show you any data because this consortium
— really funding streams began in July of 2013, so we’re just about six months old.
Like the other consortia you just heard about, we have a coordinating center. Steve Kimmel,
who’s in the back — maybe you want to raise your hand, Steve — is the PI of that coordinating
center from the University of Pennsylvania, and one of his colleagues, Reed Pyeritz, who
you just heard ask a question, is also from that coordinating center. And there are three
demonstration projects, one led by Julie Johnson who was here yesterday. Maybe some of you
had a chance to meet her. A superb pharmacologist down from the University of Florida who’s
looking at pharmacogenetics, and I’ll go into the — more detail about these projects in
a few moments. Erwin Bottinger, who is also in the room — Erwin, maybe you could just
say hello, raise your hand — is the PI from Mount Sinai who’s looking at the use of genetic
information — genetic risk information to alter behaviors in African-Americans. And
again, I’ll talk about that in a little bit more detail. And myself, looking at the use
of electronic family history information delivered to providers to alter screening behaviors
amongst a variety of patients in diverse settings. So as you’ve just heard from Lucia, there
is a coordinating center here. This really serves as an integrative hub for the network.
It’s meant to really facilitate communication and interactions amongst the sites. We have
three sites, so it’s not particularly challenging right now, I don’t think, and we had our — one
of our steering committee meetings just a couple of days ago, and the — I can say that
both the coordinating center did an excellent job, but also the fluidity and communication
amongst the sites is really superb, and we’re beginning to try to understand where the potential
overlap in the Venn diagram of our projects is coming so we can begin to harmonize across
the different projects. Importantly, we want to create a centralized
repository of data, both for our own purposes but also to share with groups like this, and
also to begin to think about how do we connect to other implementation programs and networks,
particularly within NHGRI that you’ve heard about, such as CSER, such as the Newborn Screening
Network, which are all implementation science — implementation programs, as well as eMERGE
and the PGRN. And we will, for the first time, have our program reviewed by an expert scientific
panel later this year. So let me just give you a quick snapshot of
the three projects. This is the one from the University of Florida run by Julie Johnson
and colleagues. She’s the dean of the School of Pharmacy there. She’s had ongoing interests
in working with the Pharmacogenetics Research Network in delivering pharmacogenetic information
to clinicians and studying how they use the tests and the outcomes as a result. So this
is really building on a lot of expertise at that particular site by her group, taking
well-validated tests that have information already in FDA labels and that have also been
fully vetted and analyzed by the Clinical Pharmacogenetics Implementation Consortium
that is — has been spearheaded by Mary Relling, who’s in the room, and also Dan Roden and
other colleagues from the Pharmacogenetics Research Network. So in this case, they are implementing, in
a preemptive fashion similar to what is happening in the eMERGE network, genetic information
into electronic medical records and developing the information systems that are required
to deliver that information just in time to the clinicians. The goal is to look at outcomes
such as process outcomes, just simply how do we actually get this information into the
right place at the right time and how is this information utilized by the patients and by
the providers, what actions are taken, and to also develop the understanding of, in this
case, with the CYP2C19 program, to look at things that are safety and efficacy outcomes. This is just a snapshot of the overall organization
of the program, so extending their reach into other practices outside of the university
setting to community-based health systems and other cardiology practices throughout
the Florida area. They’re also going to begin to work on IL28B for Hepatitis C sometime
in the near future. Dr. Bottinger’s program at the Mount Sinai
School of Medicine — Dr. Bottinger is a nephrologist. He’s had a long-standing — he and colleagues
have a long-standing interest in understanding progressive renal disease, and there’s been
in a lot of literature published on the APOL1 variant and its associated risk in African-Americans
for progression to end stage renal disease in those that have hypertension. So the overarching
hypothesis of his study is that informing patients about their risk of developing renal
disease and educating them about renal disease will incur behaviors that will improve their
compliance to medications for hypertension and overall reduce in the future their progression
to dialysis-dependent kidney disease. So he’s conducting this study in New York
City across a diverse set of practices. There are academic setting practices as well as
a strong partnership with a community family medicine practice also in the New York and
New York metropolitan area. Importantly, this is a cluster randomized perspective study,
so there are control practices and there are practices that are going to have the active
intervention. And, again, the endpoints that are being measured are having to process measures
about the way that recommendations are delivered, the understanding of those recommendations,
both particularly at the patient level, certainly whether this translates into better control
of blood pressure, and also at the provider level whether the appropriate monitoring tests
are being used. And there’s this whole series of qualitative assessments that are being
done through questionnaires that you see at the bottom of this slide. The last study, my own study, is building
on a project that we’ve been running for several years to develop a patient-facing electronic
family history tool, meaning that the patients entered the information, it’s not done necessarily
in the physician’s office, the information is captured and put through a series of clinical
decision support rules that deliver guideline-specific recommendations about genetic counseling and
screening tests to the patient and to the provider so two reports are generated, and
putting this into the — into a number of diverse care settings that I’ll show you in
a second. So our goals, you see on the left hand side, is to optimize how this process
occurs, to facilitate the integration of the clinical decision support rules as well as
the reports themselves in the electronic medical record, and also, through a cluster randomized
prospective study with a number of control practices and intervention practices, show
both — demonstrate both the clinical utility as well as the personal utility of an adequately-collected
family history. This gives a sense of the sites. We’re in
34 clinics across the United States. You see their geographic locations. They’re very diverse,
ranging from academic health centers to rural and underserved clinics, particularly in the
northwestern United States, and we have a number of process managers that — and implementation
science methodology measures that we’re using across this study. I think that you’re not
intended to read the — what’s in the cells here, but the point is, the kinds of outcomes
that we’re looking at are at the patient, provider, and at the system level, and as
you can see, we’re trying to capture data — and I think this is true for most of the
studies in this consortium — at the behavioral, biological, clinical, and financial levels,
and we’re looking for ways to do this as part of usual care. So, in some cases, we’ll administer
questionnaires, but for the most part, the data that we’re capturing is in electronic
medical records or in administrative databases. Like the other consortia, we have a number
of working groups. These are cross-cutting. There’s one on implementation science, another
one on dissemination, outreach, education, economics and sustainability, and then a third
that’s on process and effectiveness measures. And our goals are not only to begin to standardize
these aspects of how we do implementation of genomic medicine, but also to be a vehicle
to communicate this information across other consortia that is — that are part of the
NIH genomic medicine working space. I think this is my last slide, which is just
coming out of our last steering committee meeting on Tuesday. We know that there’s another
RFA who was — another call was made. There are other proposals that have been — that
are under review, so the network, we hope, will expand to other sites and other initiatives.
We also are thinking very carefully about how we share data, how we put data sharing
plans into place, communicating best practices, as I mentioned, and also, as we discussed
a little bit yesterday, and as Anna Kolbe had mentioned, that we really want to also
engage payers into our community so we begin to understand what they’re looking for in
terms of clinical utility, because, ultimately, sustainability is going to be dependent on
reimbursement, as we’ve acknowledged in several of the discussions we’ve had over the last
two days. So I don’t have a final slide, which is the
acknowledgment slide, but clearly I want to acknowledge NHGRI, and Teri Manolio and her
team, Ebony Madden [spelled phonetically] who is our project officer, and Heather Junkins,
as well as Erwin, Steve, Julie, and their teams at — for making this a really exciting
series of projects that I hope to report back to you on with data going forward. Thank you. [applause] So I have time to ask myself a few questions. [laughter] No. Okay, I’m going to — so I’m going to
ask you a question. What does IGNITE stand for? [laughter] No, I’m just kidding. Male Speaker:[inaudible] Geoffrey Ginsburg:
Please. Male Speaker:So this is open for everybody
to join — I mean for — or only for the U.S.? Geoffrey Ginsburg:Well, that’s a question
I think we’re going to discuss this afternoon. I mean, to the fact — I think we would want
to see perhaps opportunities to take pilot projects. We’ve heard about a number of pilot
projects, not just these, over the last couple of days and decide whether they are ones that
might be amenable, feasible, and desirable to do on an international scale of some type.
I would just say that I think — and Teri or Eric, you can correct me if I’m wrong — that
these consortia, while they have their — the funded groups, I think there’s a way to participate
in them as a visitor or an outsider just — Teri Manolio:[inaudible] Geoffrey Ginsburg:
— so you can learn — pardon? Okay. I’ll let Teri comment on that. Teri Manolio:Sure, and I’ll ask the eMERGE
group people to do as well. So actually NHGRI, as you’ve probably heard, and NIH in general,
really tries to encourage these kinds of collaborations, recognizing that it does take some time, you
know, away and focus away from the parent group. But the ENCODE Consortium, which is
a functional genomics consortium, did a very nice job in encouraging what they call, I
believe, ancillary auxiliary members. There’s maybe a better term than that, but at any
rate, they had a whole policy for doing that. We then took that and moved it into eMERGE
and have that opportunity. So, actually, the Air Force has a personalized genomics project
that is participating now as an auxiliary member of eMERGE, and they sit on our steering
— Male Speaker:Affiliated. Teri Manolio:Affiliated. Thank you. Thank
you so much. One of those A words, yeah. [laughter] But at any rate, we could do the same sort
of thing in IGNITE, and we would encourage that. To some — at some point, you know,
it becomes a little bit unwieldy and difficult to manage. The policies are not terribly odious.
It’s mainly that you’re willing to share your data and willing to maintain the privacy of
the data that are available. I know, Tim, you have done these kinds of things in ENCODE.
Yeah. So do you want to comment on how that’s worked? Tim Hubbard:I think that it’s worked very
well in terms of it — you know, it’s essentially signing up to the common data sharing platform
within the consortia and adopting those policies and turning up at the consortia meeting, but
generally people are keen to do that because that’s information exchange. Teri Manolio:I see my colleague Jeff Schloss
in the audience. Jeff, could you comment? Are there other programs in addition to ENCODE
that does this sort of affiliate membership?Jeffrey Schloss:
That’s the main one I’m aware of. What about 1,000 Genomes? Teri Manolio:Oh, 1,000 Genomes? Jeffrey Schloss:That they were all funded
by different ways, but — Male Speaker:Yeah, they were all — I mean,
I think that’s — Male Speaker:[inaudible] Teri Manolio:Yeah. Male Speaker:Yeah, there’s no point — Teri Manolio:Yeah, there’s no [inaudible],
so that’s another — yeah. Male Speaker:– because — Teri Manolio:Well, they may have their own
— Male Speaker:– which is different — Teri Manolio:Right. Yeah. Geoffrey Ginsburg:All right. I think we’ve
arrived — thank you very much for that discussion. We’ve arrived at lunch time, which I think
is the same drill as it was yesterday. We have an hour. Also, breakout groups, you should
have received an email from Rita Chambers last night that was — with the list of breakout
sessions, and it’s also out on the reception table outside the room with the room assignments
and the breakout leaders. So, enjoy lunch, and we’ll see you all back here at 2:45.

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