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Male Speaker: Okay, Maureen.
Maureen Smith: All right. Thanks. I have, as you can see,
a large topic to cover. And I do want to acknowledge the help of the co-chairs for the current
CERC work group, Ingrid Holm, and also for the Consenting Community Consultation Work
Group in eMERGE 1, Ellen Clayton, who were both helpful with this presentation, as well
as the work groups themselves.
So I want to cover, briefly, things that we've accomplished in these work groups, because
I think it's been a fair number of things. And one, certainly, that has been mentioned
over and over is issues related to biobanking and consent. And a couple of the things that
we've done is developed model consent language, which is online with NHGRI. And currently,
with the new arrival of our pediatric biobanks, we have continued working on model consent
language, but really for pediatric biobanking model. So that's currently in process, and
making -- you know, I think there are a lot of interesting issues that are different,
and so it's been good to get that going, as well.
I think another large area that we've worked in is developing a framework for directing
return of results within the network. And in eMERGE I, we looked at this as an issue
that we would be dealing with going forward. And certainly as part of the GWAS studies,
there were results that many of the groups debated whether or not they were returnable.
And so, really, the work of the group was to set up a framework that other networks,
as well as eMERGE, but similar networks could use and adopt for themselves and ways of addressing
what was returnable and how to think about actually doing that. And -- but that was actually
published paper as well.
Other things that we have worked on across the network, both at our individual sites
as well as in group activities, was to engage stakeholders related to a variety of issues,
issues that we were dealing with in eMERGE I and II, to inform our further discovery
and science-related issues. And I think some of those have been biobank governance and
consents, which led to a group paper; data sharing and related privacy issues; return
of results; the value of genomic research; integrating genomic data into the electronic
health record and clinical division support, which led to a recent paper as well. And in
all these engagement activities, we have worked with a variety of different stakeholders,
which I'll address a little bit later, but from the patient and the public on to clinicians
and other types of health plan and administrative stakeholders. So, there have been a variety
of different people in involved.
We've also worked on educational methods for patients and physicians about genomic medicine,
which is at a critical area for moving genomic medicine into the clinic. Some of the areas
we focused on have been working with the clinical division support, giving education at the
point of care to physicians, patient portals, developing materials for those and sharing
those across the network, as well as a patient website. So those have been some of the things
that we have developed.
We have assessed, and this was particularly in eMERGE I, the application of data-sharing
guidelines within the network. And that's obviously been a critical piece for our work
with electronic health records, sharing phenotypes, and other types of data. And we have looked
at how our varying institutions have applied oversight to those guidelines and recognized
that there is a -- has been a gap in knowledge around oversights for data sharing, as well
as consenting issues related to data sharing and how those issues are enforced. And so
we have looked at that quite a bit, as well as just review across our institutions of
consent, particularly for the Pharmacogenomics Project, and how varied that ended up being.
So -- and one of the other large things that I'll mention is that we've obtained supplemental
funding for a survey that we are conducting across all of our 10 eMERGE sites. And that's
related to the notice of proposed rulemaking, and we are focusing particularly on the acceptance
of broad consent in biobanking research, as well as public views on data sharing. And
we hope that this project will inform a number of bioethics and policy issues going forward,
particularly related to this rule. And I think it's a unique project similar to our PGx project,
in that it's similar across all the sites. But I think what's more unique about this
project is it's almost exactly the same at every site. And the type of project doing
a survey demands that kind of methodology, and so I think we are experiencing what it's
like to conduct something that is the very same across all of our institutions. So that's
been something that has been a learning experience as well, but, I think, will contribute to
a lot of information going forward.
So, some of the things that we have learned that I want to just mention is the role of
ELSI project in our eMERGE work, and we've already mentioned it numerous times today
in this meeting about engagement, role of consent. And I think that it's clear that
in the preclinical discovery phase going towards implementation, that the ELSI work is critical
to all of those stages. We've also certainly seen that community and stakeholder consultation
is essential for this work, particularly as we moved towards implementation, that it's
impossible to do this without stakeholder engagement. Consent for genomic research has
many strategies: educating stakeholders is a critical aspect, oversight and consenting,
and the importance of interacting with other networks and investigators, and, finally,
what we have to offer in this area.
So, our future direction, I think in terms of where eMERGE III can go, we would like
to see the integration bioethics aimed into our scientific studies. And I think a method
mentioned that's become clear how important that is as we talk about implementation. Assessing
the impact of genomic medicine: There is a lot of room for looking at healthcare systems,
for payers of healthcare services and tests, other stakeholders, administrators to help
when -- administrators, as well as patients and providers. And, again, when we look at
the impact on patients and providers, these are right kinds of outcomes to look at, and
I think that's a big question, particularly, we've noted in the PGx projects. Continuing
to engage stakeholders; developing, evaluating, and assessing new models for consultation;
developing best practices; and examining the role of stakeholder preferences in developing
policies in this area. Continue to look at consent, accepting our model languages, and
developing new models for consenting; EHR and clinical decision support; assessing point-of-care
education, using those clinical decision support tools, assessing when is clinical decision
support useful; what policies and processes need to be in place for genomic data to be
entered into the EHR, and how do those policies effect individuals.
And finally, because I'm a genetic counselor, I would be remiss if I didn't say anything
about family history. And so I think, thinking about family history data in the EHR is -- I
think all of us around the table know how poorly that's gathered, and I just want to
put a plug in for the importance of thinking about that, with integrating that into our
electronic systems. Also, engaging and educating IRB panel members and other intuitional officials
about genomic medicine and research, and that we can see how variable that is, and it's
so critical to moving this type of work forward. And also exploring new models for supporting
physicians and other healthcare providers and clinical decisions around tests. We've
identified clinical decision support, but I am sure that there are many other models
or other ways of working on that, as well as other models for patient and public education.
Male Speaker: Okay. Thank you, Maureen, and we will go now
to the designated reactor, and it will be Wendy Chung.
Wendy Chung: Hi. Can everyone hear me?
Male Speaker: We can.
Wendy Chung: Okay, very good. So, next slide, please.
So, I think that one of the things that's emerged over the discussion this morning and
this afternoon is that eMERGE 3 may be at a point of some changing in terms of information
that may be obtained, in terms of sequencing, and, potentially, decisions to be made in
terms of what information would be returned to participants.
So, just some thoughts, in terms of thinking about how that may change over time, and realizing
that the next section will been return of results, and so not wanting to steal that
thunder, I think the research community, when we think about samples that have been collected
before the era of when they were consented specifically with idea of doing these comprehensive
exome or genome sequencing, I think -- I'm going to bring up a couple points to this,
but I think one of the things that the community has realized is that there's no single correct
solution in terms of approaching the things that I'm going to talk about. And so just
because eMERGE has so many different sites, and some of the issues may be site specific,
well, hopefully there will be consensus and common methods of consenting, educating the
community. I just encourage everyone to realize that there's not necessarily going to be one
standard answer that absolutely every site must fit. And so just realizing that local
community representatives, local IRBs may have issues with this, hopefully there can
be some guidance in terms of eMERGE, in terms of the governance overall. But I think to
realize that there may be local issues is important to understand and to acknowledge.
One of the things as we -- at Columbia, we've actually done some surveys of the research
community, both in terms of online surveys as well as semi-structured interviews. And
as we've done that, trying to think about this issue specifically of samples that were
collected before this genomic era for exome/genome sequencing, and then what to do about return
of both incidental findings as well as return of individual research results, one of the
major issues that came out of surveying the research community, over 250 researchers,
was that there seems to be quite a bit of variability between the IRBs, variability
both in terms of knowledge and expertise around genomic issues, and quite a bit of education
that needs to be done. And what we are hearing recurrently is that the same issue, different
IRBs would, in fact, have different rulings on this, and that these issues haven't been
specifically addressed in the original consent form; that it was very dependent upon local
IRBs, their composition, their understanding of this information.
And so just in reflecting in a position where eMERGE III may be, I hope that it's an opportunity
to study that process, in fact, to gain some experience and some understanding about what
may lead to some of these local differences, as well as, potentially, the opportunity to
develop, centrally, materials to educate or materials to be able to explain this to IRBs,
because where there should be more consensus is building, hopefully it's not just simply
due to misunderstanding of simple sort of medical and genetic issues in terms of this.
So, I think that's something -- if eMERGE is able to do that, it's a more sort of -- it's
a broader issue across the research community in terms of how to deal with this. And, in
fact, just because there will be 10 sites to be able to this across, could provide some
really useful information in terms of the larger community. Next slide. Next slide,
please. Oh, thank you.
So in terms of consent, one of the issues with consenting has been across many smaller
studies; that, again, consents largely didn't address some of the issues that may start
to emerge. And so thinking about this, and thinking that there may be different ways
of dealing with the consent, there's -- again, I just urge people to think about there may
not be one size that fits all for this. Clearly, just over time, what participants may have
been expecting may have changed, so that when many of the eMERGE participants originally
consented, they, nor we, I think, were thinking about some of the things that are possible
to know from the genomic information. And so they, although they may have signed a very
broad, sweeping consent, may not have thought about some of the details about what's now
possible to be returned to them. And so, again, thinking about how to educate the community
about that, either retrospectively on prior-consented patients, or prospectively on newly-consented
patients, really is going to take some creative ways of educating the community about this.
So, many people have thought about how to be able to approach this, and the standard
written consents, unfortunately, is not the most effective way of educating our participants.
And so one of the things that many people have thought about doing is having either
video educational materials, or online resources; things that participants, you know, can be
able to go back to. With the online resources, be able to take deeper dives even, potentially,
and be able to go back to it iteratively over time; even, you know, speak with other family
members or other valued sources, physicians or other healthcare providers to gain their
information. But that material can be very useful. And one of the things that we've learned
in doing that process is that it needs to be very accessible, and that some of the very
complicated things that we'll do in a genetic counseling session, for instance, may not
be what you would want to include in one of these very broad educational sessions when
talking that broadly about different types of results that could be returned. And, again,
it is possible, especially with this online education, to provide deeper layers for individuals
who really want to get into it, but realizing that many of our research participants, if
we give them all that information up front, don't even -- they literally tune out. They
get saturated by this information and really can't absorb a lot of the critical details
and want to know it more on a need-to-know basis when it's something that is relevant
to them, and then dive much deeper when they know it's something that they really need
to pay attention to and tune into.
So, in thinking about that, some of the different groups have thought about a staged consenting
process or a staged information process. That is, the original time when participants consent,
you know, may not be the time to overwhelm them with all of this information, but it's
more on a need-to-know basis. And so as it comes the opportunity, in terms of being able
to think about return of particular results or situations that may arise, being able to
then give more relevant information at a time that's proximal to when that's relevant to
them. And this also can be an issue for participants who have been enrolled many, many years ago,
just in terms of their life stage, what's happened to them over life; their preferences
may, in fact, have changed over that time period. And so it may be relevant for them
to rethink these issues, you know, at a proximal time to when it might be relevant to them.
One of the wonderful things about eMERGE, of course, is by many of the patient portals
that are available, that actually provides a lot of the infrastructure to be able to
do that. And it's something that, again, as we've talked to the larger research community,
many researchers wish they had that as part of what they could do to more easily streamline
in terms of re-contacting and reeducating participants. I will say, the one pushback
we've heard from the research community about this idea of a staged consent, however, is
that it may actually alert research participants, if they feel as if they've been singled out
during that process, to alert them that there may be something, you know, that's sort of
lingering, or something that they should be worried about. And so as individual sites
think about governance and how they might do this, to just keep that in mind on whether
they are going to do this in terms of a community-wide effort, or whether they're going to target
or single out individuals who might have specific information to be returned to them. Next slide.
So I'm, again, going to try and focus on the ELSI issues in terms of the return of results,
rather than the next group that'll speak more broadly about this. But, again, these can
be very complicated, and depending on whether or not the system all up front at the consent
initially, or in a staged manner, the issues can be quite complicated. But it is, in our
opinion, sort of necessary to be able to make these as streamlined and simple and sort of
broad sweeping in terms of concepts, rather than getting into too much of the nitty-gritty.
One of the issues that will come -- you know, has come across eMERGE, because of the addition
of the pediatric population -- and, again, because it's gone on now for several years,
is that there are special populations, and certain situations have just naturally changed
over time. So there's special issues when it comes to minors, and what information and
what sort of ability they have to provide their assent into being able to have any information
provided back to them. And, of course, developmentally, those children may change over time, so that
at one period of time, they may be minors in the study, and they may be of maturity
later within that study, and need to essentially go back and re-consent those individuals.
And, clearly, the pediatric sites have been thinking about this.
In addition, individuals may actually have differences, either in their vital status
-- there may be individuals, obviously, who are deceased over time. But that information
could still be potentially quite important to other family members for hereditary conditions.
And so trying to incorporate and think about that in terms of the consenting process for
return of results would be important to do; as well as individuals that may lose cognitive
capacity over time, again, thinking about a healthcare proxy who might have a vested
interest in that information, and how that might influence in terms of information being
returned.
Another issue that frequently comes up is with such large biobanks, obviously there
are many, many different users of that information, and in terms of governance, realizing that
many of those secondary users may not feel the same sense of obligation in terms of annotating
or returning that information in a detailed way. And so individual governance at each
of the sites will be important, in terms of being able to coordinate return of that -- or
annotation cataloguing in detailed ways from some researchers, who, in fact, are expert,
in terms of understanding that, but may not necessarily be motivated in terms of prioritizing
for that return. That'll be important for the central site to be able to do. If I could
just go back, I think I didn't quite finish with that slide. Thanks very much.
And then an issue that will be coming up as, again, you make some decisions in terms of
what sequencing to do, again, we've discussed the ACMG guidelines in terms of mandatory
return of results. That'll be, I'm sure, a very hot area of discussion within eMERGE,
to try and decide whether or not to -- what to do in terms of that policy. But just to
realize that, again -- I would urge to realize that the clinical requirement that we have
in terms of return of bad [spelled phonetically] results may not be necessarily what gets adopted
in terms of return of research results within that.
Again, it's already been mentioned, but just to emphasize, there's a tremendous opportunity
to be able to educate providers sort of on-demand, with the info buttons and other information.
And really to just emphasize that I think eMERGE has a tremendous opportunity here,
in terms of implementation; to be able to figure out best practices and essentially
disseminate that throughout the rest of the clinical community, because I do think you're
going to have the ability within different EHR systems to be able to figure out what
works. And that really is going to be tremendously valuable to others. Next slide.
Now, I'll just wrap-up by saying that, you know, being able to do this is, you know,
really invaluable to eMERGE, and it's clearly what many of the rest of those of us outside
of eMERGE would find useful. And to be able to, just as you're thinking about doing all
these things, to be able to collect data on the process as you're going through, and to
learn from this, I think is going to be tremendously valuable. And to realize that there may be
some, as well, regulatory issues that come up, clearly the FDA is starting to think about
how to regulate some of these, and so there may be things that will come up as obstacles,
but hopefully not barriers, in terms of implementation.
And I think that's my last slide. Is that right?
Male Speaker: Okay. Thank you --
Wendy Chung: Okay.
Male Speaker: So, now we'll go onto Reed Pyeritz as the
-- for the summary.