Genomics and Society Working Group – Pamela Sankar

Pamela Sankar:
So I wanted to update you on the — what’s been going on with the Genomics and Society
working group. If people recall, we started this working group because there was a change
in the organization of NHGRI, which led to moving around where the ELSI Research Program
was. So the ELSI Research Program, initially, was in the Division of Extramural Research,
and when the reorganization was undertaken, it — there was a new division created, and
the ELSI Research Program is now in the Division of Genomics and Society. So the changes that
have gone on are sort of around the ELSI Program. The ELSI Program as a research program remains
intact as an independent research program, and the challenge was more how to change the
way the Institute was dealing more broadly with issues associated with genomics and society. So just to show you the differences between
the two organizations. ELSI is, as you can see here, still primarily — it is a research
program that focuses on the ethical, legal, and social implications of genetic and genomic
research, and in so doing, they fund and encourage, manage research grants, and also hold conferences
about these issues, and create research consortia and policy conferences to deal with them,
and the budget is a set-aside from the NHGRI budget. The Genomics and Society group has ELSI in
it, but then adds, or, say, emphasizes more clearly certain elements, and one would be
importantly to bring these issues and integrate them broadly across NHGRI, so stimulate and
enhance genomics, and another is to deal with collaborations with the Division of Communication
Policy and Education to make sure or to facilitate better the link between ELSI Research and
possible policy applications, and also the need for certain policy, and perhaps getting
a response from the ELSI Research community to help — to help inform that policy. The
budget remains the same, however, so — let’s see here. Part of what’s going on here of course is
there’s a — there was a bureaucratic motivation to do this in the sense of as part of the
restructuring of the management and the organization internally to NHGRI, but also importantly,
it also is a recognition of how many new problems and new events, things that have happened
— the red arrow refers to the point at which the genome is mapped, and so if you look to
the left side, yes, there were issues that ELSI was dealing with, primarily, in the beginning,
very much focused on issues that came out of research. And as we move over to the right,
there’s much more going on. It’s genomics. The genome’s been mapped. We have many more
issues going on, and a lot of these things are dealt — need to be dealt with in terms
of broader patient population as things move into clinics and other — new populations
like the newborn — or the non-invasive prenatal diagnosis, things like that. So there’s new
populations that are beginning to be affected. So as genomics is starting to really percolate
through the health care system, the issues are growing and are slightly — are changing
in nature, and that’s part of the reason to have this new division. This is just something — it’s out of a draft
paper that I have that’s not out yet, but I just thought it would be interesting here
to look at. So this is based on an analysis through Medline of using the MeSH terms related
to ELSI, not ELSI itself as a MeSH term. And if you go back to 1986 to 1990, so before
the genome, there were about 1,600 articles that might have fallen into those categories,
and in the most recent set, 2006 to 2010, there’s over 10,000. So that’s just — it’s
just a way to express — it’s a way to represent what we all know is happening anyway. I think
that that is just interesting, and it’s about a sevenfold increase, and more or less the
same with — if you run the line of genetic research, it parallels it very clearly, so
I thought that was just an interesting way to see what’s been happening. So the idea, then, of having the — of creating
the division and putting ELSI inside the division was to address this issue of being able to
broaden and expand the way that NHGRI is dealing with these issues, and the idea is that these
— the Division of Genomics and Society addresses problems that exist across the whole range
of kinds of research, and moving into clinics, and kinds of projects that NHGRI takes on.
And this is from the strategic plan — the bench to bedside graphic that we have. This is a slide that I was debating about
putting it in or not. It was the first draft of a slide. I didn’t do the second draft,
and I actually kind of liked — right here. It’s very static, and what I was going to
try to do was, like, move on and sort of show how these changes would actually be made,
make it more dynamic, more synthetic, more holistic, but I actually sort of thought this
might be a better way to stop the — to just have it only go this far at this point because
this is where we are. These are the connections that have to be made. This is a challenge.
This is static at this point. I mean, yes, there are, already existing, an enormous amount
of work that goes on. ELSI Research Program staff do not just work only on research. They
do a lot of work. They have a lot of alliances already with these groups, but I thought that
this would be sort of just a historical point to come back to in a year, and see if the
next diagram has a more synergistic or holistic appearance to it. So the question is how do we get from what
this looks like to an ideal of something more integrated? And so that was part of the reason
that the Genetics and Society working group was established, and so the idea was that
it would provide input about the ELSI Research Program, and also talk very specifically — and
I’ll talk a little bit more about that in a second — about how to think about the balance
of ELSI Research initiatives, how they should be put together, investigator-initiated versus
program-initiated, and the best use of limited budgetary and staff resources. I mean, that’s
an important theme that runs across this, and that is that all of these changes at this
point are taking place absent a — we have an acting director in Mark Guyer for the Genomics
and Society Division, but we don’t have a permanent director, and the idea is that these
changes are, at this point, taking place without budgetary changes. So there’s a lot of sort
of conceptual work that needs to be made in terms of thinking about priorities. So also to — that the working group should
be able to help advise about things coming down — coming down the pike, what might be
going on, policy landscape, genomic medicine, and then this was — this is one of the important
things to identify ways that the new division can work more effectively across NHGRI with
the other — the research and policy components, and then also to think about synergy or collaboration
between NHGRI and other institutes, and also going out to national and international. So this is — one more, sorry — identifies
issues that are more appropriately — this is an important one — more appropriately
addressed by other NIH institutes, or other agencies and organizations. And this has been
one of the problems because as genetic and genomic research has expanded, and has more
and more institutes, and more and more people are interested in taking this on and using
it as a way to understand their particular field, they also encounter more of the ELSI-related
issues, but they have not — the other institutes have not themselves established an office
to deal with ELSI issues. So that while it’s welcome and very encouraging that all of the
other institutes have embraced this sort of research, it is a burden on the ELSI Research
staff to be the primary, if not sole, repository of expertise on these issues vis-à-vis all
of NIH. So we put together a working group, and got
some excellent people to serve. This is a working group of council, and so there needs
to be at least one member of council on it, and there are three right now, including myself,
and Amy, and David Williams. David and I are rotating off fairly soon, so Amy will be [laughs]
the representative. And this has been a great group to work with so far. We’ve had some
phone calls, and we’ve had some meetings. The first meeting was in April, and what we
did, more than one might expect for a group, was really try to concentrate on explaining
to them very basic facts about the organization of NHGRI, and the relationship between ELSI
and NHGRI and what the reorganization did, so — because part of what they will need
to do initially has to do with sorting out how to move the division forward, and that
requires understanding the division — the place of the division within the institute.
So we had talks by Mark Guyer, and Eric Green, and Jean McEwen, and Joy Boyer about NHGRI
reorganization, the goals and mandates of the division, and the history and organization
of challenges of the ELSI Program, and of ELSI budget and finance. So we spent the first day going over a lot
of very basic things, and I don’t think that anybody in the group, other than those of
us who are now on council, I don’t think there’s anybody in the group who had been on council
ever, meaning that some people had been on study section, some people still are, but
there was a need to have a lot of these conversations. People were not really aware of a lot of the
details. So on the second day, we had two discussions
to move this along, and the first one was about talking about program priorities, research
program priorities, and this is important for several reasons, but partially because
the way that priorities have been set in the past has been primarily through the strategic
planning process, and there’s a sense that it doesn’t necessarily address the details
of the ELSI mandate as closely as it should. And so there was a lot of talk about how to
figure out a better, more effective means for creating ELSI Research Program priorities.
And then we also talked about how to talk about the evolving field of ELSI, how to improve
the program balance between research-related and service-oriented activities. This is at
the crux of a lot of the challenge of moving from just the ELSI Program to officially putting
it inside of a division where the division officially has the responsibilities for working
with people who are working on policy and things like that that are really not research
activities, and so how do we handle that challenge in a way that’s appropriate, and that maintains
the excellence of the research program? And so one idea that the working group was
proposing was to figure out how some of the duties that have been taken on by the ELSI
staff can be transferred out, and whether or not there’s a way to grow those skills
more broadly, for instance, within NHGRI, some of the skills that they bring to the
conversation. On the second day, we talked about how to
integrate ELSI research into genomic research and policy, and this is a part of the whole
story because, again, as there is more and more research being done on genomics, the
question is what’s the best way for ELSI to track that, to parallel that. So you can have
an embedded program where there — members of the research team who are ELSI-identified;
you can have a parallel program where they are funded through parallel RFAs. You can
leave it to the R01 mechanism. So there are a lot of different ways, and so whether there
should be imbedded, independent, service-oriented, scholarly; different modes of integrating
ELSI research into genomics. And then what we next started to talk about
what how to assess the value of an embedded ELSI component because there’s been some success
with this recently, and so is this a good — a good — a good mechanism to use. And
so we started to talk about, well, how would you know? How would you know whether it’s
a good thing? And so we started to try to talk about should there — should we try to
create a list of standardized questions that could be applied for all new programs that
would help the ELSI group assess what would be the best way for ELSI to become integrated
into various research programs. So we haven’t actually come up with a list yet, but the
proposal is that we can. I mean, it will be based on those — the middle section. I think
maybe Karen — is Karen here, Rothenberg? Yes, okay. So maybe Karen can speak to this
a little bit more. This was the session that she chaired. But these were some of the ideas
that we came up with about how to — how you could go about trying to ask those questions
and make those decisions. So that was the second day, and we will move
forward. We’re having phone calls in between, but the next time we can figure out a time
to meet is in November, and in November, the working group members themselves will start
to do presentations. So the first time around we really had the staff of ELSI and the staff
of NHGRI in a — in the role of educating the members of the working group, and now
the working group people themselves are going to pair up and come up with their different
assignments of the issues that we talked about in those two discussions, and we’re going
to focus in on at least two areas and start to decide how the working group can best address
them, whether it will be through a set of recommendations, through a report; we haven’t
exactly decided the mechanism. But this is all — so what we’re focusing on now is the
relationship between ELSI and the division, and on ELSI and how to improve or how to have
the priority setting process be as effective as possible within ELSI. And then the goal,
eventually, is to move on, and to have a much more broad — a broader sort of take on initiatives
about how ELSI should be addressed. But this is where we’re starting. And then the other things that we’ll do at
that meeting is that we’ll get a report on the ELSI training efforts which is important
because the CEER Program is the first group’s — first people who got their CEER — first
institutions to get their CEERs will be moving out of that. It’s just five years and five
years and out, and so they’ve been very effective as training mechanisms. So what — I mean,
yes, there are other ones being funded, but what to do with those universities that have
created some really excellent training programs. Update on the division director search, and
we’ll also have presentations from Intramural Program from the Communications in Education
and Policy, and from the Bioethics Core Intramural Program — that’s a typo. So the issue being,
again, more of an educational piece so that the working group members can have a sense
of what the infrastructure is and what these other offices are. So I think this has gone very well so far,
and I want to thank the ELSI and NHGRI leadership and staff who have helped us out and been
very, very generous with their time and their resources. And any questions? Eric Green:
Okay. Thank you, Pamela. Pamela Sankar:
[affirmative] Eric Green:
Questions? Comments? Discussion? Amy, do you want to — as a member of the working group,
do you want to add anything or — Amy McGuire:
No, I think that was — I think that was very helpful. It’s a great group of people. I think
the — my understanding is that the goal is for this to be kind of a longstanding group
that, you know, we don’t always get into the weeds of the ELSI Program in this council
meeting because the — it’s such a small portion of the portfolio, so the idea is to kind of
serve as an advisory council to the staff for that program. So I think it’s so far the
first meeting — Pamela did a great job, and it was very — it was very helpful, I think,
for all the members. Lon Cardon:
Just a quick question out of interest. You noted on one of the days you — it was a discussion
of one of the evolving interest points of ELSI, and I just wanted to — are there hot
buttons that you came up with that you’d like to share? Pamela Sankar:
What the conversation was about more was how to standardize, or how to make the process
of doing that — Lon Cardon:
Oh, okay. Pamela Sankar:
— and how to integrate that so that that’s an ongoing capacity. But maybe Amy, or Karen,
or anybody else has — no. Okay. Amy McGuire:
I would just also say that I think the group very much was in agreement that we would welcome
sort of questions or direction from this group in terms of our activities because I think
— you know, there’s a lot of issues that come up in terms of sort of there’s this 5
percent set-aside, and it’s kind of its own autonomous, independent thing, but we’re starting
to see ELSI get integrated more into some of these other programs outside of that set-aside
budget, and thinking about how much to do that, and where to do that, and what is appropriate,
and so I think, as we get ready to meet in November, past this meeting people have suggestions
of things that they would like for us to tackle, I think — I don’t mean to speak for you Pamela
— Pamela Sankar:
No, no, no. That’s — Amy McGuire:
I think the group is very — Pamela Sankar:
— that’s fine. Amy McGuire:
— very open to — Pamela Sankar:
[affirmative] Amy McGuire:
— getting feedback. Eric Green:
I’m — I mean, I should also add maybe a few things. I mean, keep in mind I’ve been very
open about this — creating this new division from the beginning, and that this is sort
of, you know, wet clay. Even some of the things that you see from Pamela’s presentation or
hear me talk about before, there are some ideas about how this new division can be something
even beyond just the ELSI Research Program classically defined, and, clearly, I — I’m
trying to set up an opportunity so that when the first permanent director is identified,
part of the attraction I would think of being that individual would be to be able to create
something and take this division in a direction beyond what it has done traditionally in the
ELSI Research Program, either within the ELSI Research or things around it, or as other
things that would fall under the general umbrella of Genomics and Society. So I — part of my reason for wanting to get
this working group up and going, and functional, and interactive, and thinking about stuff
is so that when a new director is — you know, the first director is identified, that individual
now has a good group to immediately interact with and to bring — so I’m fully convinced
that once a director’s in place, there will be things this working group will be doing
that we can’t anticipate right now.

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