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Male Speaker: Thank you, Maureen. I'm going to go now to
the designator -- designated reactor, and that'll 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 one of the things that's emerged over the discussion this morning and this
afternoon is that eMERGE III 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 action will be on 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 area when they were consented, specifically with the 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 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, while 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 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've -- 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 of whole 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 were hearing recurrently is that the same issue, different IRBs would in fact
have different rulings on this. And that these issues hadn'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 that 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 do this cross, could provide
some really useful information in terms of a larger community. Next slide. Next slide
-- oh, thank you.
So in terms of consent, one of the issues with consenting has been across many similar
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 consent 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 more
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 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 want -- really want to get into it, but realizing
that many of our research participants, if we give them all that information upfront,
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's relevant to them, and then dive much deeper when they
know that 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.
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 governments and how they might do this, to just keep that
in mind on whether they're 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 will speak more broadly about this. But again, these
can be very complicated, and depending on whether or not this is done all upfront 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 to too much of the nitty-gritty.
One of the issues that we'll 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 that just naturally changed over
time. So there are special issues when it comes to minors, and what information and
what sort of ability they have to provide their ascent 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 majority
later within that study and need to actually go back and re-consent those individuals.
And clearly, pediatric sites have been thinking about this.
In addition, individuals may actually have differences even 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 the 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 a return of that
-- or annotation, cataloging, 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 that 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.
And 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
of 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 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. And now we'll go on to Reed
Pyeritz as the -- for the summary.