GM4: Next steps – Actions, Timelines, Coordinating Committee – Marc Williams

GM4: Next steps – Actions, Timelines, Coordinating Committee – Marc Williams


Marc Williams:
So this is the working part, not that the rest of it wasn’t. But this is where we really
want to take some of the ideas that have been developed through the talks, and that we’ve
had a little bit of time to discuss, to kind of flesh out, go into more detail, and, ultimately,
would love to be able to translate into sort of tangible actions. And so I’m going to be
kind of leading this part. Gene is going to be taking some notes and also trying to keep
track of the order of people who are talking. What I want to do is first present what I
captured from the discussions to this point. And so these I’ve identified as key points,
and they are roughly rank ordered using the metric of how many questions were asked and
how much discussion we had. So you can argue whether or not that’s valid, but that’s how
I did it. So I’m at least transparent about my methodology. So the key points. Number 1, the role of guidelines,
or less evidence-based pseudo-guidelines, if you will, which is ACP best practice advice
and other examples that we heard of. I heard the idea that we need to get away from this
paradigm of whether or not we should test to — assuming that the information is there,
what would you do with it? The CPIC model and, again, others have talked about that
particular model. But also the idea that we have to be sensitive to clinical scenarios
to clinical contexts, as was brought up by Ned, reflecting the work that EGAPP has done. Practitioners, we’ve heard, look to their
own specialty society for guidelines, but we’ve also heard about the opportunities that
we may have when we can get specialty societies to work together, and that’s going to be more
fully explored in key point 10. And so the question that I posed is could there be some
novel process that could overcome the parochial interest and policies of individual societies?
And then, again, that may or may not be within scope of what we think we can reasonably accomplish,
but it was a question I thought would be — was worth putting up there. We talked a lot about evidentiary standards.
This is something that comes back. I think we’ve heard about evidence at all four of
the Genomic Medicine meetings to this point, and I’ve expanded that a bit — in collecting
outcomes data to inform evidentiary gaps, which we’ll also discuss in a bit later. So
that’s sort of the whole guideline point. The idea of focusing on the development of
competencies as opposed to just trying to teach the knowledge. And I think one thing
that I would identify as being potentially a very useful outcome at this meeting would
be if we could synthesize the different surveys that were done and, you know, publish something
that — here are cross-cutting issues. We have surveys from seven different professional
societies, and here are the five things that every single one of them identified. I think
that would be extremely powerful when combined with some of the work that’s been done through
the Secretary’s Advisory Committee on Genetics, Health, and Society and their education publication,
the SACDINCS [spelled phonetically] education publication. We’ve got a lot of this, but
it just really hasn’t been well pulled together, and that would be a potential role, a tangible
output, a white paper of some type that could come out of this group. And the idea that
we have to pay attention both to physicians and to allied health professionals. We have to recognize that this needs to be
bidirectional information flow. We’ve heard that from several different folks. We heard
about the ASCO Rapid Learning System, the way the CRVR is intended to be used for this.
But the idea that we need something related to a safe harbor or a trusted broker to manage
this type of information, collection, and sharing, and that we really have to involve
the patient perspective in this because, ultimately, if we don’t capture what the patients are
interested in, we will have missed a huge piece. Evidence, the idea that genomics is a tool.
I love that we’ve never done a RCT on creatinine-based dosing. I mean, I think, in some ways, that
was a very interesting perspective that I hadn’t heard before. Is RCT-level evidence
needed? The role of other types of evidence generation, comparative effectiveness, pseudo-perspective
trials. The fact, again, relating back to what we talked about in Number 2, we’ll have
the data in hand, so it’s not a testing paradigm, but it’s how do we use data that we already
have. And then what was related in Bob’s presentation, the concern about perfect information versus
good enough information. The 70 percent effectiveness is better than not using the information at
all because we’re waiting for 100 percent effectiveness. And I think that’s a very practical,
pragmatic argument that can be made. We heard about different tracks for genomic
training to fill different needs that — as much as it pains me is a dysmorphologist to
say, not everybody needs to learn dysmorphology. The maintenance upgrading and sustainability
of proposed resources — this is an ongoing issue that we create cool things, either through
grant funding or something else, and you get to the end of the funding and then it just
kind of goes away, and we’ve had many examples of things disappearing, although through dented
effort, we’ve had other things that have managed to find sustainability, such as OMIM, and
GeneReviews, and what is not transformed into the Genetic Testing Registry. What are the incentives for the end users
to actually learn about this. And we heard about CME, or its equivalents, maintenance
recertification, reimbursement, credentialing, which I think was a really interesting concept
to emerge, and the liability issues. We heard about a lot of different materials that are
available through a lot of different professional societies. Would it be possible to aggregate
all of these materials in one place, at least those materials that are meant to be publicly
consumable, and G2C2 is being a potential place where this could be done. What can we
do to make — increase the visibility of these resources? And David and I were talking at
the break about how can we lower barriers to accessing these resources, ideally within
the context of care, and a bridging technology right now might be using an app. So, in other
words, you can link to up-to-date through a handheld device or something of that nature
because right now we may not have access to it in the electronic health record or through
clinical decision support. It’s not where we ultimately want to be, but it’s a bridging
technology that can help lower barriers to accessing information that’s of relevance. And then we heard about this concept that
Gene proposed of a society of societies, and, in some ways, that exists — I mean, there
is the American Council Medical Specialties and other things, but it hasn’t really targeted
some of the important concepts that came up today. One thing is done. So we have one tangible
action item that we’ve already done, which is professional society representation for
the CRVR. I declare that done, and there’s a signup sheet which is “See Erin.” So give
Erin your names if you want to participate, and then we will — we can say we’ve done
one thing even before we all leave. But I think there’s a recognition, as Bob
Saul was saying, there are common and repetitive things that we all do, and we all bitch about
the same things. It takes too long; it’s too complicated. So can we, in fact, look at the
things that we all do and that we’re all trying to solve, and, in some ways, create a place
where we can solve them together so we don’t have to come up with one-offs. Issues that
have come up are issues around direct-to-consumer, some of the pharmacogenomic issues, and the
guideline development. Again, whether or not that’s something we’ll feel competent to address
here, I don’t know. So those are sort of the 10 that — I didn’t
intend it to come out to be 10. It just sort of came out as 10, so this is not a Letterman
rip-off. So I guess at this point, then, what we’d like to do is open the floor for discussion.
I would certainly entertain information about whether the prioritization is right or wrong,
whether there are things that we completely missed that you think are important to represent
in the list, enhancements, or, best of all, practical suggestions or solutions for how
we might move forward. Eugene Passamani:
A small addition to the number 10 — it seems to me that one thing that I heard today is
that the societies would benefit by sharing best practices. I mean, some of you have figured
out some really interesting things, and I wonder whether some sort of mechanism can
be put in place to actually share best practices about guidance and about educational activities.
I would also make a suggestion, Marc, that it might be best for we introverts in the
room, if you ask everybody around the table to sort of chip in because if we don’t, the
extroverts are going to take all the time. So it might be best to ask each of the professional
societies to — Marc Williams:
Well, that wasn’t something we talked about from the group. But the point is well taken.
However, given the total number of people in the room, I’m not going to take that suggestion
— [laughter] — as a friendly amendment to what I’m going
to do. But I will say if you tend to be a shy person, get some powdermilk biscuits — [laughter] — and turn your microphone on. That’s a practical
Midwestern solution to that problem. Joan, I think I saw your hand first. Joan Scott:
Yeah, so I think another important thing that could come out of the meeting today is that
education occurs — or the — all of this occurs — implementation at the practice level.
And so, what works in Geisinger is not necessarily going to work in a community health center
in the Bronx, and what’s going to happen in my internist’s office in Frederick, Maryland. Marc Williams:
[affirmative] Joan Scott:
So all of the things that we’ve been talking about in the different educational materials,
the approaches, the tools, the point of care versus more of a traditional CME approach
— all of that is going to have to be implemented for different approaches at different settings.
And I think as groups start to generate that — what I had said earlier about practice-based
evidence, about what works at the practice level, of having a forum to share those lessons
learned so we know why does a point-of-care tool work in Geisinger because you have all
of these bah bah bah [spelled phonetically], versus why do we need a more traditional CME
approach in another setting because they had a different problem with a different set of
health care practitioners? So generating that information about the approaches that work
in different settings and a forum for everybody to share that, I think would be really — help
advance the science a lot. Marc Williams:
Great. I like that idea. And I think the other thing to mention in relation to that is that
there is a trans-NIH activity related to dissemination and implementation science. And these types
of questions are scientific questions that can be approached through funding mechanisms
through that organization, and there are a number of ICs that are contributors to that
dissemination and implementation group. And as of this year, NHGRI is one of the ICs that
is actually contributing to that effort. So I think adding engagement with dissemination
and implementation activities at — either through NHGRI or through other mechanisms
to reflect best practices would be a good suggestion. Female Speaker:
Yeah, I want to make the point that it would be very helpful to make it easier to write
guidelines across societies, so we actually wanted to do a guideline for a pheochromcytoma
and paraganglioma genetic testing, and wanted to try to do it with ASCO and ACGME since,
obviously, it seemed to cover both, but we started with ACGME, and then we were told
that, you know, we couldn’t go back and forth once one that started at one place — even
though we hadn’t done anything, we just write a proposal — that we couldn’t go to the other.
It was just — became really difficult and we got sort of lost in a morass of trying
to do it in more than one society. So I think that that would be really helpful to be able
to do that with more facility. Marc Williams:
Yeah, so that would fall within the sort of the society of societies idea that there might
be ways to manage those types of issues, because that’s a recurring problem that we hear. Teri. Teri Manolio:
So we have — I think we have Donna and then, Bill, did you have a comment? No, okay. And
Pearl. How about Pearl was first, then. Pearl and then Don. Pearl O’Rourke:
Just to add to your Number 1 on the guidelines, listening to the discussion around the table,
I think we need to agree what we mean by “guidelines,” in that I think — are we talking best practice
guidelines that thou should, or thy should consider, or thy shalt and — Marc Williams:
I think the answer is yes. Pearl O’Rourke:
Okay, but then the — Marc Williams:
What I was trying to get at here was that there’s a whole range of things that fall
under the rubric of guidelines. And we heard several examples of those. And so I interpret
this to mean everything that, you know, falls under some type of a guidance. Pearl O’Rourke:
Okay. But I just think that we need to pay attention to the tip of that iceberg in terms
of how it might push on coverage decision making, as well as on liability for perhaps
not doing it in certain settings and others. So I think there is a tip of that iceberg
which carries some other baggage. Marc Williams:
Right. So what we could do, Gene, to help me is under D, just include impact on reimbursement
and impact on liability. On 1D. Donna. Teri Manolio:
Donna. Donna Arnett:
Just to build on the society of societies, we’re very enthusiastic about that approach,
and I think that would be great synergy. We’d also — I’ll volunteer Bill and myself in
terms of the HSACC guidelines development. We’d just gone through a rigorous methodology
summit that took a full year, looking at the IOM recommendations and really looking at
how we can move forward with guidelines. And I think with the IOM’s recommendations out
there, if you want to call something a guideline, building on what Pearl said, we really need
to know what we’re doing. And I think the society of societies could create some kind
of process, and we’d be happy to lend our expertise to that. And I think also some of the stakeholders
that I think will be important as we move forward and think about gathering evidence
are the IT, the EMR, and the health systems, and probably the payers, because right now
we’re working more on the scientific domain of the different phenotypic areas, and I think
we really will have to see how the EMR changes how we can collect information, how buyer
repositories can change what we’re doing, and how payer system may impact all of it.
So I think having them at the table in our society of societies could really make something
more comprehensive emerge from that. Marc Williams:
Thank you. And just to sort of pre-stage coming attractions, one of the report-outs will be
a report of a meeting that we had with engaging payers with industry and research and others
to accomplish that. And we had a number of takeaways from that meeting, but this would
be something that we could definitely add to that list of things to consider, and we
had a lot of enthusiasm and willingness to participate from those folks. Male Speaker:
I would just add that there’s some risk that we might duplicate efforts that have been
undertaken already, and it’s natural that we would. A fair bit of this has been accomplished
within societies because a guideline is not a guideline is not a guideline. We started
to write the cancer link. We were immediately confronted by the Level 1, Level 2, Level
3 evidence to no evidence at all. And so we have used standards from — broadly from medicine
to write guidelines, guidance, standards of practice, you know, typical care, and then
again to feed back against [unintelligible] benchmark. There are procedures even — I
forget the name. It starts with a D. There’s a procedure for basically taking minimal data
sets and having groups of experts reach consensus. Male Speaker:
Delphi. Male Speaker:
What’s it called? Male Speaker:
Delphi, right. So I think that all that has been somewhat done already. Marc Williams:
Right. Male Speaker:
The other thing that I would just point out about society of societies: Pragmatism and
expense being what they are, it didn’t take us very long to start to vote formally within
ASCO, for example, to endorse Ontario guidelines. Marc Williams:
Yeah. Male Speaker:
Because they did the work already. We look at them. Done. Marc Williams:
Yeah. Male Speaker:
And so a lot of that process maybe one could very efficiently get through. Marc Williams:
Yeah. And I think the intent of that would not be to, as you say, you know, go back and
do it all over again, but to really assemble the best practices so you could envision,
in a society of societies, that there would, you know, a reconciliation group that would
look at evidentiary ranking, and that there would be another group that would look at,
you know, methodologies to be employed where there’s not certain levels of evidence or
these types of things. Male Speaker:
The only point I’ll just make in this discussion is it’s not a static creation. And one of
the things that we’ll have to grapple with is how you provide some sort of meaningful
feedback against your guidelines, especially when they’re not at the highest level of evidence. Marc Williams:
Right. Male Speaker:
Because you need to test them going forward to see if they’re legitimate or not. This
is real effort. Marc Williams:
Right, [inaudible] flow that we have to get the information back somehow. And that was
also a topic that was discussed at the payer meeting, which is the idea that, you know,
payers have a stake in terms of improving care as well. So, can we use novel payment
methodologies, some of which had been employed, for instance, the CMS decision to do coverage
with evidence development related to pharmacogenomic testing for Warfarin to try and answer the
question about whether you should do it or not. Now, you know, one could argue that that
process didn’t necessarily result in the best trial. But at least it’s an honest effort
to try and do those sorts of things. So, yeah, I think that that’s important. Rex. Rex Chisholm:
Well, I’ll just add to that, that one of the things that’s been explicit in all of the
discussions of the, whatever we’re calling it, CRVR right now, is that evidence changes
over time, right? And so we need to be able to understand how a variant that today doesn’t
meet a criteria might, in a year and a half, meet a different set of criteria. So there
needs to be an explicit process built into whatever there is to make sure that there’s
a reasonable review of the evidence behind any given data — any given guideline, because
that is not a static thing itself, so. Marc Williams:
Yeah, my recollection was that that specific point was mentioned in the RFA, that there
has to be some attention to that very point, which, again, gets back to the — getting
information back out. Because the other issue we’re going to have is that, you know, even
if the, you know, the world as a whole has decided that evidence is not sufficient to
move something into practice, there will be certain enthusiast or early adopters that
will move it into practice, and if we can learn by that pilot experience, then that
will be — and then we can aggregate that information that will be useful. Teri Manolio:
So I think I saw Bill and someone else on this side, but Bill, go ahead. William Zoghbi:
Along the same lines of guidelines and documents, I would propose also putting in that same
category appropriate use criteria. And the reason for it, that has a certain methodology.
And let me share that with you, because I think it’s very attractive. If a guideline
is put only by a geneticist to push a certain, you know, testing, whatever it is, there is
apparent conflict because you’re trying to push and you’re the expert on it. The nice
thing about appropriate use criteria that’ve been developed, I think, in 1999 by RAND and
UCLA, and then they used it — modified their final methodology. There is a technical title,
let’s say here, genetics expert, but, ultimately, this coding panel has multiple stakeholders:
has clinicians, has experts in the field, et cetera, et cetera. And I think that methodology
lends itself to more scrutiny as well as more acceptance from the outside. Marc Williams:
All right. Yes. Female Speaker:
I’m changing the topic, and I don’t want to do that if there’s still more comments on
guidelines. Marc Williams:
No, I think that’s fine. Female Speaker:
Okay, all right. I’m just going to go back a little bit to the genetics education track,
and one thing, Marc, you had mentioned was in training educators — genetic educators,
possibly? Is that correct? Marc Williams:
I had mentioned the idea that perhaps another class of providers that has a certain level
of genetics training, but not to the level of a genetic counselor or medical geneticist.
Yeah, I proposed that. Female Speaker:
Right. And one thing I would — and I think we should definitely look at a lot of different
possibilities. And one thing I would also propose is to think about challenging the
current program directors. There’s an Association of Genetic Counseling Program Directors, and
also ABGC, and the new accreditation ACGC, to also think about how we can train more
genetic counselors, if that’s something we think is necessary. You know, Gail [spelled
phonetically] spoke to earlier about how residency programs in genetics aren’t full, but 100
percent of our slots in genetic counseling training programs are full, with still highly
qualified applicants that we can’t get in, we can’t fit into current training programs.
So how can we expand that? What resources are necessary? And maybe asking some of those
questions might be worthwhile. Marc Williams:
Thank you. Yes, Gail. Jean Jenkins:
Just one comment on — Marc Williams:
I’m sorry, not Gail, Jean. Jean Jenkins:
Sorry, Jean Jenkins. Just one item under 2 in terms of competencies. Just so you’re aware,
there are nurse competencies, there are physician assistant competencies, and the pharmacists
just are endorsing their competencies soon to be released. And then there’s also nchpeg.org,
which has general healthcare provider competencies listed as well. So those might be templates
or ideas for consideration. Marc Williams:
Yeah, I think that’s a really good point, although — and this will not shock Joan because
she’s heard me say it in a number of times, that many of those are much more knowledge
than they are competencies, I think, at the present time. But I think revisiting that
— I’ll let you have a rebuttal to that. Joan Scott:
No, no, I agree with you. I think that’s where my comment about it, it happens, the implementation
piece. It’s like in that particular setting, what’s the gap there, and what’s the skill
that’s needed to close that gap. And the knowledge is only what supports it, and — so I agree.
I agree with you. Marc Williams:
Pearl. Pearl O’Rourke:
A comment and a question. This is on 1D. I really like that one a lot, since that’s where
I was before. But collecting outcome data — is there anything being done at a trans-NIH
level regarding this, because it’s not just genetics that needs outcome data. And I fear
that the way we’re going with our sort of siloed electronic medical records, HIPAA,
I mean, there’s so many anti-sharing situations going on, whereas I think this is something
would be, I think, good to hold hands on. Teri Manolio:
Yeah, I’ll refer to my colleagues at other institutes. I am not aware of any efforts
in that realm. Are any of you? Male Speaker:
Sounds like a good data science project. Marc Williams:
Ooh, ooh. Teri Manolio:
So what is a data science project? Male Speaker:
Science [inaudible] Marc Williams:
You’ve got the interim director sitting right next to you. Male Speaker:
[inaudible] Pearl O’Rourke:
I think it’s the logistics of sharing. Marc Williams:
Collection and sharing. Pearl O’Rourke:
I think it is the logistics of — I mean, I think, you know, right now everybody and
his brother has a different electronic medical record system that they’re, you know, there
may be a common vendor, but we’re all changing it for our own place, which, we’re so unique,
you know. [laughter] And then add onto that also just issues of
not only HIPAA but a patchwork quilt of state laws regarding what you can and can’t share
without specific consent, and yet we need outcome data. I would think every other area
of medical research needs outcome data. So rather than us owning this, I’m trying to
find a rich part. Marc Williams:
Yeah, and there’s clearly there are other federal agencies. I mean, the FDA is very
interested in collecting post-market data because they recognize that the drug approval
process does not generate adequate amounts of information to identify rare and significant
medical side effects. The whole point, I think, to some degree of the Patient-Centered Outcomes
Research Institute that was created as part of the Affordable Care Act, is the idea that
we have to be able to get at outcomes. AHRQ has certainly done some work. So this is an area that a lot of people have
been talking about, and so, in some ways, that implies that the solutions are not readily
apparent. And so the question then really comes to the scope. In other words, could
we, through the CRVR or some other mechanism, actually address the delimited issue of collecting
information relating to genetic variants, in which case, that would be a good thing,
recognizing we can’t solve all of the problems. And that’s the thing I always get nervous
about, is that almost anything we talk about, whether it’s privacy, or discrimination, or
access, ultimately scales back to a problem inherent in our health care delivery system.
And if we take that on, then we will definitely not get anywhere. So I think that’s the only tension that I
would see is, while there’s opportunities for partnership there, we have to do it being
cognizant of the fact that we ultimately could try and eat a whole elephant. Rex Chisholm:
But one of the whole issues, I think, of this big data initiative, this data science initiative
is there are technical tools that can be deployed to anonymize and make sure that, you know,
to the extent that — and policy tools that can be applied to say you can’t — you’re
not allowed to reidentify. You agreed not to reidentify. So, you know, I think big data
is only big data to the extent that it’s not all sitting in separate silos. And so a federated
approach to think about how to bring important key elements of data and integrate them, I
think, is an important target for the big data initiative. Marc Williams:
Yeah. Good. Geoff. Geoffrey Ginsburg:
So one thing that I didn’t hear mentioned today is the use of genetics as a training
tool in the classroom. You know, it’s still a handful of programs, but nursing, medical
students, fellows, and even post-graduate courses have used genetics as a means to try
to — in training physicians and providers in, you know, what a genetic test really is,
and I guess the question is, you know, is there an opportunity for us to learn from
those efforts and maybe guide them a little bit, or to understand where they might be
useful. Maybe that comes under one of your educational initiatives or the society of
societies, or I don’t know if any of the professional organizations have had direct contact with
those or have a comment on it. Marc Williams:
Do you have a specific example that we could perhaps reference? Geoffrey Ginsburg:
Well, the — at Stanford, there’s a medical school — medical students are given the option
to get their — some SNPs used as part of their training. There’s the BIDMC. I think
pathology residents course that has also offered this — Marc Williams:
Right. Which actually — they were just awarded a large grant, I think. If I’m not mistaken,
to look at that more broadly across — Female Speaker:
[inaudible] But it won’t include the SNP testing, from Navigenics, which is what they did for
their residents. Marc Williams:
For their residents. Female Speaker:
Paid for by the department. Marc Williams:
Okay. And I think Ohio State is also — Geoffrey Ginsburg:
I guess my point is — the question is, what — there are several — these are ground-up,
obviously, initiatives aimed at training health professionals, and I think it deserves at
least a place on our agenda to understand and evaluate — Marc Williams:
Okay. Geoffrey Ginsburg:
— its usefulness or not. Male Speaker:
[inaudible] best practice. Marc Williams:
Or in some ways, it’s even a — in some ways, it’s a personalization. So, in other words,
personal experience with genetic information. Yeah. Understanding what it means to you.
Okay? Yes. Joan Scott:
Just one follow-up comment to that. There was a session at the last ASHG meeting just
around that, where a number of the groups who have implemented this in their various
medical schools had shared their experiences about the different approaches that they took,
and why. So that would be a place to start to sort of get that information. Marc Williams:
I want to maybe put a couple people on the spot. Oh, you can decline to accept being
put on the spot. But in the course of the meeting today, there were some emails that
were kind of flying around, particularly from some of the NHGRI folks, about certain things
that were being discussed. And it may or may not — you may or may not feel comfortable
sharing in this group some of the conversations about the education group at NHGRI and your
reaction to what we were talking about, or policy, and your reaction what we’re talking
about. But if you have some things that you’ve heard that you would like to relate initiatives
to or opportunities about, I would certainly entertain those. Or you can say out of bounds. Teri Manolio:
Well, I’m not sure what you’re talking about, so — [laughter] — maybe my colleagues are aware. Robert Roberts:
I guess one thing I would mention is that, for example, do we need to go to, like, Medicare
and Medicaid and talk to them about genetics. For example, a test came out of the [spelled
phonetically] RNA for 21. And Medicare has approved to do it. FDA hasn’t. And if I were
to look at it, seriously, I’d say I have a hard time finding why they should. But, obviously,
these are providers of a large number of our population. And I think that, are they really
educated to it, and maybe, certainly, if a robust representative from this conglomerate
today were to approach them, I think it would be meaningful. Marc Williams:
Well, actually, I can tell you that we’ve had engagement with at least some representatives
from CMS that attended, actually, one of these Genomic Medicine meetings and presented, and
also participated in the payer meeting where they talked about the coverage with evidence
development. So we have some engagement. The challenge of course with dealing with something
like CMS is that one representative, you know, cannot the entire organization represent.
And so, you know, how that gets communicated back and how that filters down in terms of
overall coverage policy, and that is, to some degree, problematic. But we certainly have
reached out and engaged, and we recognize that they do, in fact, provide coverage that
ultimately could impact a utilization of some of the things we’re talking about. Rex Chisholm:
Well, I can just say is, I mean, as a follow-up, I did have a follow-up meeting with WellPoint
after our last payer meeting, and they’re actually very willing to continue to be engaged.
And as you provide data of a sort that I don’t think we’ve had access to before in terms
of how many cases they support and how much money they spend on genetic testing and a
variety of other things, which I think will be very useful for us to inform this activity
as we go forward. Marc Williams:
Yeah, and there’ve been other payers that have been willing to show us, at least aggregate
numbers, such as United Healthcare, not in an NHGRI — well, actually it was co-sponsored,
I think, with CTMP, where there was some — their white paper on genetic utilization was presented.
So we do have some good engagement. I think they’re interested. I can tell you that their
perspective is they’re less interested in the evolutionary approach that we’ve talked
about. They’re really looking — they recognize, in terms of the utilization curve and the
cost curve, that they need something to dramatically alter the trajectory. And, in some ways, they’re
saying if you can provide us with something that’s going to dramatically alter, as opposed
to being one more thing that’s added on. So that’s the takeaway message there, is don’t
be one more cool thing that’s just going to add more cost and not improve outcome. So
there — I think that was their message to us, is that you really have to think about,
you know, how you’re addressing the value equation. Yes. Katherine Johansen Taber:
So this is sort of going back to the question you asked NHGRI about, you know, different
projects that they are involved in and possible funding opportunities, but I wanted to just
point out — and maybe some people saw this — a couple of weeks ago, the AMA announced
that it would be funding eight to 12 medical schools that are willing to submit applications
and undergo a pretty extensive change in the way that — or at least proposed pilot-type
changes in the way that medical education is undertaken. And so I just wanted to point
— the RFP is online if anybody is interested in seeing it, and I would certainly encourage
any of you who have that decision-making power at a medical school to read through this RFP,
but one of the examples that is written here in the RFP about the types of innovations
that the granting committee is going to be looking at says improvements and innovations
in training related to a whole bunch of things, and one of them is genomic health. And so this is, you know, hopefully the fact
that it is written into the RFP will encourage some of these medical schools to think about
that and incorporate that into some of their proposals. So we’re hoping — I have nothing
to do with the group that put out this RFP other than chatting with them in the halls
every once in a while. But I do talk with them, and I hope that this will be something
that’s incorporated in many of the proposals that they end up getting. Marc Williams:
Great. Thank you. Teri Manolio:
I might note that in terms of RFAs and other things that are sort of pending, we will have
a discussion of those tomorrow. So there was a plan for NHGRI to talk about kind of the
ongoing genomic medicine activities that we have. We thought we would focus on the professional
societies today. Marc Williams:
Ned. Ned Calonge:
So I don’t know how far away we’re getting away from Number 1 to the rest of the list,
but since it’s still up there, and it relates to evidentiary standards, I think it is critical
that we figure out a standard approach or framework to other evidentiary standards that
could be used to inform clinical guidelines other than randomized control trial. The recognition
is that no matter what you do, you introduce uncertainty, or, if you will, you increase
your risk of being wrong. So I think back to the issue — a phrase that was used earlier,
we can all agree on the facts, but we take the same facts with the same evidence and
can create really different professional guidelines that vary on this basis of, when is evidence
good enough to say go ahead and do it? So I think if we can admit that, it might
help structure the decision making around what evidence other than RCTs can be used
to drive a “you should do it” type of guideline. And just recognize that there’s a risk of
being wrong. Then a framework that says, okay, if we are wrong, you know, what is the potential
harm out there? So if your risk of being wrong is moderate but your risk of doing harm is
low, you could actually say, let’s get some experience with this particular approach,
reporting this result, or acting on this issue, and then fill in the evidence gap going forward.
I think, as I’ve talked to other people, then you have to have the evidence — the coverage
with evidence development disciplined to say once we know something doesn’t work, we’re
going to stop paying for it. You know, we heard the digoxin [laughs] example earlier.
We used a lot of digitalis before we actually did the RCTs, and, to be honest, we used a
lot of digitalis after we did the RCTs — [laughter] — because the diffusion of information to
not do something travels slowly as well. So I think managing that piece is really important. And then I always ask people who are doing
guidelines to always think about the comparison with usual clinical care, because we’ve developed
the biochemical and the pathophysiologic, pharmacologic approach to medicine over a
number of years, supported by science and the randomized control trial. And while we’re
better in some areas than others, we’re actually pretty good in a lot of areas. And so we should
always be thinking about the marginal benefits. What additional clinical health outcomes do
we gain versus the marginal costs and risks. As long as we always keep those in mind, I
think we can create these slightly less certain guidelines with evidence development that
were disciplined to fill in the gaps moving forward and improving science. And I think
that’s the framework that the guidelines that could be existing between the group of professional
groups should kind of look at in moving forward. Marc Williams:
So to maybe put a different spin in terms of what it is you’re saying, the way I would
capture that is to say we’ve got a nearly infinite number of things that we could potentially
choose to do guidelines about. If we had some sort of a framework by which we could prioritize
which things are more likely to be beneficial and less harmful using some other types of
criteria than are currently used, then we could prioritize creation of that, and also
prioritize what we really want to collect evidence around, rather than just, you know,
letting it happen in a stochastic way. And so whoever chooses to do something, contribute
to evidence, that’s what we get, but it may not what we’re particularly interested in.
Yeah, I think that’s good. Alan. Alan Shuldiner:
I have two comments about surveys and guidelines, I guess. I thought the survey data that was
presented today was really informative, but, on the other hand, none of the surveys really
presented any benchmarks to know what to compare this data to. And I think that would be very
important if a white paper is going to be written so that the data is interpretable.
To me it seemed like, well, yeah, docs need more education in genetics, but maybe docs
need more education with regard to how to diagnose a thyroid nodule or something like
that. So I think we need that benchmark. The second with — pertaining to guidelines
and surveys is I wonder whether guidelines drafted by a society of societies would be
taken the same way by an individual member of a society in terms of how they would interpret
those guidelines and potentially implement them. We all tend to be married to our specific
memberships, and I’m just not sure that guidelines drafted by a conglomerate of societies would
be interpreted the same way by physicians in the trenches who are actually going to
decide whether they’re going to implement or not. That would be a good survey question
to ask. [laughs] Marc Williams:
Yeah. Yeah, and I think that that’s a, you know, that’s a fair point, although I think
inherent in the comments was that whatever this hypothetical process would be, whatever
societies contributed to it will ultimately, then, present that as “this is our,” so there
would be an endorsement process or something where you would, you know, each of the representative
societies that participated in the creation, that guideline would say, yes, ACMG, ACOG,
AHA, we’re all — we all hold that this is our guideline, which is one of the reasons
why it’s such a problem to do joint guidelines because we have these processes that are very
different. But that was at least the way I was taking it, but there would be another
model, which would be the idea that you’d have this über-society that would create
its own guidelines that, you know, the individual societies could choose or to or not to endorse,
and I think, in that case, that question becomes particularly relevant. Alan Shuldiner:
Yeah, it took about 30 years to agree on a diagnosis for gestational diabetes between
the ADA and the [spelled phonetically] — so that’s just one example. Marc Williams:
Yeah. And it’s usually not the big stuff that we disagree on. It’s usually the little stuff,
but it, you know, it’s that asymptote to where, you know, it’s trying to approach the speed
of light where, you know, you have to throw more and more energy and you never really
get there, and so, again, you know, and in the quality improvement lexicon, it’s perfect
being the enemy of good enough. And as a result, we just create more work, and we have less
product, whereas we could probably do more good if we just gave up on some of the smaller
stuff. Yeah, Mary. Mary Relling:
I guess to expand a little bit on these points about, in terms of collecting outcome data,
how important is the problem, what’s the downside of implementing a guideline. Related also
to our earlier conversations about we don’t insist on having outcome data that dosing
many drugs based on serum creatinine improves outcomes. And we continue to apply this genetic
exceptionalism to ourselves. So I think we should also prioritize and identify those
applications of genomic medicine and genetic testing where it’s not worth spending our
precious tax dollars that we’re all fighting for to get our grant money on something that’s
more or less a no brainer. Marc Williams:
Yeah. Mary Relling:
And that we should also be willing to say sometimes we shouldn’t collect outcome data
because I believe collecting outcome data is one of the most complex exercises there
is, right? I mean, is this not what eMERGE spends all of its efforts doing, is figuring
out how to take highly sophisticated people with electronic health records and getting
useful information out of it, and it’s a huge effort from a lot of smart people. So it’s
extremely expensive to collect outcome data, which also means collecting all the treatment
information data, which is extremely complex in order to understand how to interpret your
outcome data. So a lot of times people throw up, let’s compare outcomes as if that’s the
easiest thing in the world to do, when it’s the hardest, and the most expensive, and the
most complex things to do. So let’s sometimes be satisfied with implementing and moving
on. Marc Williams:
Yeah. And I think that, you know, in pharmacogenomics, there are clear examples. Then you take it
back of your — it’s an adverse event. It’s highly predicted with a single SNP. You’ve
got alternative medications. You know, you don’t need to do an outcome study on that.
You just say, don’t give the people that have the SNP Abacavir. You use another antiretroviral.
The challenge sometimes is, is the balance of — and we’ve had this conversation before
— the balance between adverse events and efficacy. Because in some of the conditions,
some of the drugs — gene pairs we were talking about, there’s not only impact on increasing
adverse events, but the adverse event is a consequence also of a treatment target. And
so by reducing adverse events, you might, in fact, also reduce efficacy. And that’s
where I think, you know, measuring outcomes becomes a much more important activity. But you’re right. Rather than just applying
the rubric to say we have to collect outcomes, we say we’re only going to collect outcomes
in this scenario. We’re not going to collect outcomes in these scenarios. And that’s, I
think, gets back to what Ned was talking about in terms of defining that framework up front,
in terms of what it is you really need to answer the question. What’s the consequences
of not giving someone Abacavir when you have a bunch of alternative medications. It’s extremely
low. And so you can tolerate being, you know, somewhat wrong, even though, in that particular
case, we’re not wrong. So, Bill, I think you were first, and then Mike. William Zoghbi:
Just want to caution regarding guidelines of rediscovering the wheel a bit. The reason
for it is IOM just came out this past year with the recommendations of how to even refine
them further. So I think that this is really the guide for all of us. Where you see a lot
of variability, I would say, is going beyond guidelines. Expert consensus documents, maybe
appropriateness use criteria, position papers, health policy papers regarding a certain issue
here and there, but I would recommend that we really uphold, in the vast majority, the
IOM recommendations, which are quite restrictive. And if you look at our European colleagues,
I mean, they look at us, and, you know, wow. You are quite restrictive going there, but
this is really the common nomenclature for us. If it is a guideline, a guideline has
something meaningful by itself. It has a certain methodology, it’s quite rigorous, it has a
systematic review. It has so many other things that go into it. So I would encourage this
group to take it as, you know, recommendation as really the recommendation for it. Marc Williams:
Right, and I would just say that, you know, again, I don’t think we have been rigorous
about the semantic use of the term “guideline” here. I think we’re using it much more generic
sense. And so I think you’re — for what we would truly characterize as a guideline as
defined by IOM, I would completely agree with you. But we have all of these other things
that, you know, based on frameworks or whatever, we may determine, are more appropriate to
use as opposed to a guideline, in which case then we probably do have some creation to
do in terms of saying, well, what would be the appropriate way to approach that? So that
would be the only comment I would make to clarify that, so. William Zoghbi:
Just to change the topic a bit, could we discuss a bit the concept of society of societies
— like a fund of funds. [laughs] Marc Williams:
Before I do that, Mike, did you have a comment specific to guidelines? I didn’t want to derail
that. Mike Murray:
Yeah, in the guideline area, I think that something that would be really useful to clinicians
and a real need is if we extend Mary’s CPIC model, we are going to be faced with a situation
where lots of people are going to have genetic results in patients that need to have them
put into perspective. Marc, you’ve been working, and a lot of people have, on the idea of returning
the in steno [spelled phonetically] or secondary findings from genomes. I mean, this whole
notion of, you know, what to do with a BRCA mutation and someone who has no family history
and no prior probability. If we could focus some of the energies of people in this room
on what to do with results in those situations because that’s going to be the real frontline
battle that providers are going to have to face of what to do with this data. Marc Williams:
Okay, thanks. So now we’ll come back. Maybe should we call it — for those of us who are
old enough, we can call it “The Great Society.” [laughter] Channel LBJ here. I’m sorry. [laughs] Go ahead,
Bill. William Zoghbi:
I just want us to clarify because I don’t know if this was a previous discussion or
not regarding society of societies. As to what do we mean by that? And what are some
of the, you know, guidelines for that concept, and besides, certainly, sort of defining the
science, some of the processes that we have to gather. What do you guys have in mind? Marc Williams:
Well, I think that the — what I’m reflecting here is that this concept sort of emerged
from the presentations and from the discussion. And so it’s really more to represent sort
of a straw man concept that has, you know, little, if anything, beneath it in terms of
what it should really look like or what it should do. And so it’s really more of a trial
balloon to say to people around the room, is this a concept that has enough value to
it that we should begin to drill down and explore what would be the conditions and what
would be the work of this proposed society of societies, one. And number two, is that
really work that this group, in the context of genomic implementation, thinks would be
valuable, or would the output be — in our summary, we say this was a clear problem that
was identified and we don’t think it’s our problem to fix, but we would hold it up to
the society representatives to perhaps take it farther. That’s how I would characterize
how it arose and what we’re now kind of deciding what to do with it. Eugene Passamani:
So, Marc, let me take a crack at a little bit of that. It does seem to me that it would
function as a clearinghouse, in a way, just as today we’ve heard a lot of different approaches
to similar problems. A body like that might keep track of technological advances. It might
keep track of what’s coming out of the clinical variant thing. It might, in fact, ask professional
societies or recommend a professional society, some of whose representatives sit on it, that
this is — seems like something that you ought to look into. Why don’t you do it? It seems
to me, for a society of societies — or whatever we want to call it — to impose itself on
an existing professional society is silly. I mean, I don’t think anybody would want to
do that. But I do think — I heard around this table today a lot of things that I had
never heard of people doing, and sharing those best practices, it seems to me ,would be a
useful thing to do, if that’s the only thing that it does. So, anyway, that’s the general
idea, I think. Marc Williams:
Rex. Rex Chisholm:
Yeah, I’m not a fan of the term “society of societies” because I think it implies something
that we’re really not intending to imply here. You know, society of societies would suggest
that there’s some reach-through to the individual members of that society, and I don’t think
that’s what we’re talking about here. I think, you know, what we’re really talking about,
and I think it really grew out of the CRVR — I can never get the acronym quite right
— but out of the discussion that we should have a place where people get together and
coordinate. And that’s a very — coordinating is a very different activity from implying
something about societies. So I would say we should not use the term society of societies,
and maybe talk about a coordinating group of societies for genomic medicine or some
[inaudible] — Eugene Passamani:
Or a coordinating committee, perhaps. Marc Williams:
Okay. William Zoghbi:
I would go along with that. I think either a coordinating group, working group, task
force — Marc Williams:
Okay. William Zoghbi:
— whichever way, because, you know, society has other implications, but I think the essence
of what, Gene, what you just mentioned is really what came out loud today, is there’s
so much to share and coordinate and synchronize among various societies. Marc Williams:
Nancy, I think you were next. Nancy Rose:
I — you might want to call it an advisory group. I don’t know. But I think this also
means you’d have to — I mean I — when I think about this for ACOG, I mean, it would
mean that somebody would have to talk to some very high level people to even get them on
board as opposed to going through our committees, right? I mean, because — I don’t know. I
guess I can just envision all the political ramifications of this. So — Marc Williams:
It’s, you know, wonderful — Nancy Rose:
Right. Marc Williams:
As Yogi Berra once said, “In theory, theory is better than practice, and practice it ain’t.”
So this is — Nancy Rose:
Yeah. Marc Williams:
— theoretically attractive, but, as you say, the operationalizing it through the existing
societies structure is potentially problematic. Nancy Rise:
You know, I guess I would view it as something — I mean, I think it’s a great idea. I’m
not saying it’s not. But I think this is about sort of advice, and support, and broadening
knowledge, and sharing goals and stuff, but I — as opposed to any kind of society of
societies, but some sort of advisory group. Yeah, I know, I think we got to get rid of
that. But somewhere where somebody goes to some very high level person to kind of bring
that up. Marc Williams:
We’ll call it the Coalition of the Willing, and assume the same success. Nancy Rose:
I mean, all of these have executive boards, right? It’s an executive board issue, really. Teri Manolio:
I think rather than focusing on names, what would be very helpful for us to learn from
the society members who are here — some of whom are at very high levels — is how you
would want to interact with us and with the other groups in terms of either giving suggestions
or recommendations to your membership, collectively to us or to others. We do have to be a little
bit careful about establishing federal advisory groups, which this would not be. But it would
be very helpful. I like Gene’s idea of maybe, you know, putting the very societies on the
spot who are around the table and just asking you to comment on what your group would like
to do and how you’d like to be involved. So maybe if one of you wants to — Marc Williams:
Okay. Robert Roberts:
Teri, I would like to say one thing before we get probably — worry about the names and
what have you. But I think it would be a mistake if we didn’t — whether it’s these 10 points
or something watered down or otherwise enhanced, you know, to ask all the societies to publish
that page in all of their flagship journals. I think that would have a tremendous effect
for us, then, as individual societies to move forward. I certainly don’t like another committee
because committees have a life of their own, but they don’t achieve things. And the famous
quote is that, you know, very few people on a committee does anything, but they often
stop many people from doing anything. Marc Williams:
[laughs] Robert Roberts:
And I always remember, you know, look back about 2,000 years ago, guy got together to
think about you should go down and transform the spiritual system on earth. And the three
of them got together but they sent one. And he got 12 disciples, and we’re wondering about
ever since what’s right or wrong. So I don’t think societies would be good about it. Marc Williams:
[laughs] Robert Roberts:
But I do think we should have something out in the journals, and I think asking the people
from the various societies what you can publish that one page would be good ammunition for
all of us to use for our individual. Marc Williams:
Yes. Male Speaker:
Again, I mean, I understand some of the concerns, but to me, this seems relatively apolitical.
We frequently collaborate to get lots of things done, and most of the larger societies — and
I’ll speak for ASCO — would be very welcoming of somebody just saying, “Here are the rules.
Here’s the playing ground. And we will contribute to it, and we would respond to it.” It’s a
whole lot better than everybody setting up a local shop to try to resolve the same problems
again. So I don’t think we’d have any hesitation at all about supporting this in whatever way
we could. I would say I wouldn’t call it a society of
societies because — [laughter] — it’s just a little working group. That’s
all. Teri Manolio:
Yeah. Okay. So we have Donna, and I think Bill. Donna Arnett:
So I’m really — won’t get stuck on the name either, but — because I recognize there’s
a lot of juice in that conversation. But from the perspective of the American Heart Association,
I think, for me, I’m still struggling with what the “it” is that we’re trying to solve
by all coming together. So I’ll try to articulate what I think the “it” is. And I think we came
here to evaluate and assess the level of education needed to create a workforce in the health
arena that can accommodate genomic medicine. And the second piece is how we could move
genomic medicine translatable down into the trenches where people are working. So assuming
those were our two objectives — and I could be wrong — but assuming that, I would think
this group would want to come together and create one common educational platform targeted
at the various health delivery systems that we have. And that then we could also define
what are minimal pieces required to develop a guideline, or a performance measure, or
something else that would allow us to move into that translational space. So that’s what
I think the “it” is, and what we, the American Heart Association, would want to contribute
to. Marc Williams:
Yeah, I think that’s reasonable, and, again, I think the risk is to try and overdefine
at a very granular level, you know, what that would be. But, you know, keeping it at a relatively
higher concept, which is to say these are things — and we’ve heard in all the presentations
from the different groups today — you all had the same sorts of things teed up in terms
of, you know, we have to get our people ready, you know, for genetics and genomics, and,
you know, the needs assessments kind of shows the same thing. So rather than do what we
usually do, which is we all go off and do our own thing, can we, in fact, do that together,
achieve some efficiencies of scale, some consistency? But then let the, you know, the group, you
know, in some ways, define how they want to actually create actionable output related
to that. That’s how I would come to see it. Wolfgang, I think. Wolfgang Sadee:
I was just thinking about the terms that are being thrown around and what we’re trying
to achieve, so it’s said, genomics, genetics, genomics, which is a discipline. And then
genomics medicine, which enlarges this. And I thought, you know, what is all similar or
common to all these societies, and what we want to do, and what genetics/genomics, but
also medical informatics. It’s also ethics. It’s also economics, et cetera. So what has
a tendency to expand the role — what has the tendency to expand the role of what one
wants to do, and then all of a sudden, there are all these stakeholders that do the same
thing. So I’m not clear now whether we’re fighting for, you know, activating for genomic
medicine? That means we want to change medicine as a whole, or whether we look specifically
at genomics. And some of the definitions are not clear in my mind anymore. Marc Williams:
Yeah. Well, I think that’s natural at this point because I think what we’re really dealing
with are, you know, some concepts that have been articulated, but, again, those concepts
in some ways are going to mean different things to different people. And I don’t think I can
guarantee you, having done a few of these before, that with 80 people in the room, we
will not achieve consensus on what everything is to be done. But I think if we can achieve
the idea that there’s a group of folks that are really activated and want to work together
on this, one of the tasks would be to define the scope of what it is that will be done.
I think that would be a reasonable output. Debra Leonard:
One of the things I was struck by as I listen to everyone speaking is that many of us have
webinars or teaching courses online, and just even for all the different specialty practices
for pathology, almost all of those would be relevant in one way or another, and having
all those resources in one place, you know, and yeah — Marc Williams:
Yeah. Number 9 here, where again, I think that would — that’s something that I would
see as being, you know, very doable, recognizing that not all the resources that are created
within a professional society are meant for [inaudible], but those that are, it would
seem that either, whether it’s a repository of links or the materials themselves, that
would be a relatively easy thing to do, and that there potentially could be resources
within genome or within the NIH more broadly that could, you know, serve as the aggregator.
Again, that would be something that would seem to be very doable. So it’s good to highlight
that. We tend to like to focus on the really hard things and forget that sometimes there
are really easy things that we can do quickly. Female Speaker:
So following, then, on comments that we’ve already heard from at least, you know, some
of the ASCO and AHA reps — I think, Bill, maybe you might want to comment from the ACC.
We also have our pediatric friends, I think, still here. Yes. And others. So, Bill, why
don’t you go ahead. William Zoghbi:
Yep. I like this forum. I think this forum has shown us that all of us face challenges
in the area of genomics. And there are tremendous opportunities that conceivably we can learn
from each other. I think, Marc, you highlighted quite a few of the commonalities here and
things, so, I think this forum should not be there only for one time. And — but from
this meeting should come out some summary of at least the things that we’ve shared. So going back to quite a few of the surveys,
actually, highlighted the opportunities and the challenges, and I think — I mean, this
is the pathway in a way to try to improve that. And it is education from medical school,
if it is not on the curriculum, and this is something that we could do something together
to the training programs. And I believe also that education will always have different
forms, be it webinars, CME, et cetera, because individuals, you know, interact and engage
in different ways throughout. But since each one of our specialties are dealing with disease
entities that have some genetic bases, some of them more highlighted than others, some
more mature from understanding pathophysiology, et cetera, and application, and we’re not
able to really penetrate and affect that very well, be it because of knowledge, or who to
refer ,or how to embed individuals, and also payment reform and CMS, I really think here
there is an opportunity to highlight some commonalities and how to address this. Now, each one of us in their own, you know,
milieu, will have to decide what to do because the diseases are different. For pathology
it’s different, for cancer it’s different, for cardiovascular disease it’s different.
But there is enough commonalities, at least, to come up with something that — this is
on the radar screen. It is an issue. And these are at least some solutions to take us there.
Everything is evolving, and our ways of educating and engaging individuals is evolving. And
believe it or not, patients need to get involved here, you know. We have a website for patients,
and we’re going to put some genetic material where it makes sense for when there is discussion
between the health care professional and the patient that can come to the radar screen. Marc Williams:
Yeah. Bob. Robert Saul:
Obviously, I cannot speak for the American Academy of Pediatrics. I’m merely a representative.
But I think I can speak to the fact that we very much welcome collaboration both ways;
the ability for somebody like me to come to this meeting and the ability for other members
of other professional organizations and the government to come to our meetings. We have
representatives in the NIH and other folks like that to come to our committee on genetics
in addition to the representative from the American College of OBGYN. And so we’re very
much a part of that. At the same time, I think the American Academy of Pediatrics, like most
professional organizations that deals with the specific constituency, is very protective
of that constituency and wants to make sure they’re doing the right thing by that constituency,
because that’s where their money comes from, is those folks. So it has to be deal with
and appropriately respond to those individuals. But a couple things that I — as I’ve been
trying to take things in here. And I had mentioned that the American Academy of Pediatrics has
a strategic planning initiative on epigenetics. It sees that as a significant tie-in to some
of the other projects that are going on. For example, early brain and childhood development;
those issues are critically important in terms of — since we now know that we can, if you
will, screw up the expression of genes without modifying them because of epigenetic factors
prenatally and postnatally in terms of maternal and child abuse or whatever; that we now recognize
that that’s a significant factor that needs to be dealt with. And the other thing is, that we really haven’t
mentioned here, but one of the things that came clear to me at our colloquium, was that
we really do not — we do a fairly abysmal job, I think, in terms of looking at the continuum
of genetics over the life span. We have our own little — we have prenatal, we have pediatrics,
we have adult. We don’t communicate very well over the life span of that, I mean, because
so many things that happen prenatally and early postnatally are critical to the diseases
susceptibilities that adults have. But we have not done very well with that. So that’s
just another issue that I would encourage us to look at to figure out how, as the professional
societies in these organizations work together, to figure out the continuum of disease across
the life span, not just whether you’re an OBGYN, a pediatrician, or an internal medicine,
or a gerontologist. Marc Williams:
And I think the thing I would add on to that is that if you look at the, you know, where
the potential value of doing a genome or an exome would be, it is, in some ways, through
reuse of the information. So whenever that genome is done, it’s done for a specific purpose,
but there are going to be other purposes that will come on down the road. And so if you’ve
done it, and you can make the information persist some way, and you can define, as Ned
was saying earlier, the clinical context under which you would pull certain parts of that
information in, then you have something where if you invest your thousand dollars in your
genome, you [inaudible] entire life span, as long as we can understand the appropriate
context with which to use the information. And I think, you know, that’s slightly different
than the point that you were making, but it [inaudible] how we need to have continuity
and hand-offs. And, of course, it also comes back to the
idea of that ultimately, as Wolfgang were saying, there are going to be some huge informatics
issues that are underlying that, which is where is it stored, how is it transmitted,
what parts are exposed to the electronic health record, under what circumstances. Again, within
a disintegrated health care delivery system, is very problematic. So there’s plenty of
grist for the mill there, but I think it’s — Male Speaker:
And one other thing I didn’t emphasize, and, obviously, the Genetics and Primary Care Institute
is meant to be an example and get collaboration from other primary care societies, like American
Academy of Pediatrics — excuse me, of Family Practice, American College of Physicians.
Arguably, we’re concentrating right now on genetics because that’s group we can — or
pediatrics — because that’s the group we can have the most impact on and understand
the most, but we would hope that these outcomes would be generalizable to other specialties. Marc Williams:
Thank you. Mike is the official — I’m going to put you on the spot as the representative
of the College of Medical Genetics and Genomics, since — at least since Bruce has left, and
you’ve been uncharacteristically quiet today, so I didn’t know if you had any specific comments
or observations in light of Teri’s request to kind of put everybody on the spot. Michael Watson:
Probably nothing terribly useful. I mean, I — you know, there is no organization of
specialties in the country. There — I would say, it’s actually worse right now than it
has been since I started in this. There’s two different organizations who try to umbrella
the specialties, and they’re at odds now. So how we pull this together is going to be
interesting. But I do think it’s increasingly important that we do it. You know, we’re moving
from this time where we think about the diseases and the six-person model. And we’re moving
to variant first, which means, you know — I really sort of dread the day our guideline
about incidental findings comes out, because these are going to be asymptomatic people
associated with specialists and other areas of medicine who don’t know we’re doing that.
And, you know, one day we’re going to put out a guideline that says, you know, there’s
cancers, there’s cardiomyopathies. If we find this variant, then we should tell this patient
and begin to act on prevention and reduction of severity. So I do think that there’s a lot of — there’s
a huge communication problem that’s coming in a variant first world, where the specialties
aren’t talking to one another. Yet genetics is going to impose, you know, a fair bit of
itself on other specialties, and they’re not going to see it coming because we have no
good networks in which we communicate among each other. Marc Williams:
So that’s another good potential functionality to add to this concept, which would be interspecialty
communication to kind of keep people up to speed, just as we did today, of what it is
they’re actually — we’re actually doing. Michael Watson:
So I would say that, then I would say the — I — you know, my dread in this is that
we end up perceived the way the Genome Institute did for a while, which was, you had the technology
in NHGRI. All the other institutes had the diseases. So to go after a disease, you had
to partner up, and you brought the least amount of money to the partnership — [laughter] — because you were the smallest institute,
and we’re the smallest specialty. So we — you know, as much as we had brought expertise
and would like to bring it to these other activities, we are careful in that we have
little resource aside from knowledge to bring to the table. Teri Manolio:
I think there is, you know, a point of hope here, where you said, you know, there’s no
sort of umbrella organization of that. And while that is a challenge, we have here a
nidus, an area that we can work around that I think is exciting. The public is interested
in it; clinicians are interested in it. You know, it’s very cool. And if we can’t galvanize
the societies around this — I mean, you know, the Heart Institute galvanized people around
hypertension. You know, hypertension is really important, but it’s not nearly as exciting
as genomics and genetics. [laughter] Marc Williams:
I’m getting hypertension just thinking about it. [laughter] Teri Manolio:
Yeah, that’s right. Michael Watson:
I agree to an extent. You know, my other worry, really, is that a lot of people representing
the societies talked about the benefits we’re going to get from integration of clinical
decision support into electronic environments. You know, I don’t know where that’s going
to come from. Right now, you know, an EMR CDS company talks to the guy that down the
street who says I know that disease. And lo and behold, there’s, you know, a clinical
decision support tool built into some of these EMR that — Female Speaker:
[inaudible] [laughter] Michael Watson:
Do you want them available to — Male Speaker:
At popular rates. Michael Watson:
So, yeah, I mean it’s a much bigger problem than that industry has even thought about
at this point about really how do we do this, because this — you know, this is across all
specialties when they start developing this kind of clinical decision support that guides
all practitioners around what to do when certain things happen in the care of a patient. Marc Williams:
Howard. Howard McLeod:
Back in the early ’90s or maybe it was late ’80s, when some of the big journals decided
to come up with a Vancouver agreement, and they — the approach for publishing. It wasn’t
all journals, it was just some, and it wasn’t any autonomy issues. It just agreed on a format,
and journals that weren’t at the table, some of them agreed to go after it, too. And I
think, in some ways, you know, the rheumatologists aren’t here. Well, they’d come up with pharmacogenetic
guidelines in the last six months. They’re influencing rheumatologic genes, but they’re
not here in the room. But if the groups that are here come up with an approach for what
is useful and what’s not, including beyond genetics, you know, why is amiodarone part
of Warfarin dosing? Never been a trial and yet it’s a factor influencing the dose selection.
We need to be thinking more broadly how genetics and other factors come in, write some of those
general rules. Societies that want to adopt that approach can. Others can do their own
thing. But at least there will be a way forward, and I think that will get at a lot of the
frustration we have around the room. We’re tired of guidelines that kind of miss the
boat. And fewer of them will miss the boat. Some will still miss the boat, but we didn’t
want to be on that boat anyway. Marc Williams:
Erwin. Erwin Bottinger:
It strikes me to the topic of individual societies and umbrella grouping, or group, et cetera,
that — and I’m not a member of any society that’s present, represented here, and maybe
you have more comments to what I’m going to say, but what I was very encouraged by recently
was the work of the ABIM Foundation and the Choosing Wisely effort. And, you know, there,
I think, the way I understood it was they wanted to get together, and they did get together,
many societies, and they reached consensus on what to advise clinicians on certain tests
that are overutilized. And, you know, if you have a patient with xyz, do not do back pain,
do not do a chest x-ray until six weeks after presentation, things like that. Now there must have been a process of getting
these folks, you know, around the table and getting them to talk, et cetera, et cetera.
And I was wondering whether it has experience with this and whether that could be something
one could look into. Marc Williams:
Well, certainly, we have one example of how to do it, which is extant, and we’re currently
participating in. Mike, were you involved at all with the ABIMF Choosing Wisely? Okay.
Okay. We believe you. [laughs] Teri Manolio:
So I’m going to try to wrestle the moderator slot back from Marc [laughs], and just point
out we’re probably — Male Speaker:
[inaudible] Teri Manolio:
Yeah, that’s right. [laughs] We’re probably getting to the end of this segment, and I
wonder — we are moving, then, forward to the next steps, segment or — Marc Williams:
Right, yeah, so — Female Speaker:
Okay, so we wind up — Marc Williams:
Yeah, right. So let me — because I think we’re, you know, I think, if anything, the
things that I’ve heard here would alter the order in the sense that the thing that ultimately
sort of got represented here at the bottom, clearly, I think, is something that people
are highly interested in and energized about, and so that will be something that will move
up the chain. The process that we envision going forward will be that we will be, you
know, taking this, taking the notes that Gene has been taking, synthesize that into sort
of a version two of what we heard, and that will be available to be sent around, and will
ultimately provide the basis for a summary of the meeting. So you’ll have another crack
outside of the walls of this meeting room to provide input based on reflection and that. But I guess, at this point, what we’d like
to do — the things that I’ve heard that I think we can tangibly say are next step — and
people can disagree — but certainly the pursuing how we might be able to aggregate materials
in one place, and I think, to some degree, that would also include professional societies
that are represented here, saying, we have this stuff and we would like to be a part
of it. That could be communicated to Gene, and Gene would probably send out an email
invitation to that. If there are specific suggestions beyond G2C2, where that might
occur; that can be something that you could suggest or that the internal working group
could look at. I think, clearly, we’re going — the planning
is going to be discussing how we might be able to reconvene — let me just step back.
The Genomic Medicine Group will continue on and will continue to explore other topics.
But I think what we’ve heard here is that there is an enthusiasm for a group specifically
around professional societies to also have an opportunity to convene and have some ongoing
meetings. And so that’ll be something we’re going to need to talk about at the planning
group level, how we might operationalize that to happen, and can — again, if you have specific
ideas about how that might happen, we would like to solicit that. And the sense I’m getting
is that, you know, a lot of the discussions relating to this, in some ways, are now going
to be a subset of that group discussion. You know, that these are an important output of
professional societies, but what we’re really talking about now is how we might step back
and look at some frameworks that could potentially inform selection or other criteria. So that
would be something. So, are there other tangible action steps
from the discussion that people would want to put forward that we should have as takeaways?
Yes, Teri. Teri Manolio:
So I guess I might suggest that we plan to have a follow-up — probably a conference
call or whatever — of the professional society representatives, either those of you who were
fortunate enough to come to DFW, or someone else from your society if you’re not available,
as being, you know, at least the first group of the Coalition of the Willing, and really
try to define what are the things that we would like to get done in the next, you know,
three to six months or so, and that — I see heads nodding around the room, so. And I also
am quite sensitive to Nancy’s comment that, you know, we absolutely have to have a leadership
of the various groups on board with us, and in some we do and some we don’t. So we need
to identify from you what’s the best way to convince them of that. It might be, you know,
here are these five big societies that want to be part of this. Don’t you want to be part,
too? But that may not be as convincing as really having kind of an agenda for this is
what this will do for you and this is what we’d like to get from you. Marc Williams:
Yeah. And I think one thing I would add to that — and I’ve heard a couple of you, you
know, as you were thinking through what this might be — sort of articulate some ideas
of what you heard and what you think would be most useful. I think, Donna, you had said
that. Bill, you had said that. For those of you that would be willing to kind of put that
down in writing, and say this is what we would be interested in in engaging around and sending
that to Gene. Rex Chisholm:
Whatever you want to call it so that it’s not too prescriptive but so that we can think
about how we best can use the resources in the room, and the resources of NHGRI and the
NIH, even, to think about how do we feed this pipeline with useful data that can be used
to better improve the quality of health care through genomics. And I think that’s been
an important goal. So I just want to make sure that that also stays on there. Marc Williams:
Right. Yeah. No, it clearly is something that I — we’ve probably spent 65 percent of the
time in discussions on that issue, so I think it clearly has risen to the surface as being
something critically important. I think the other thing that we could put on the table
for this potential group is whether this would be the group that would be represented in
the CRVR in terms of the concept of the external professional society guidance to that specific
project. So I think that would be one way to kind of pull that together, and I don’t
know that we’ve — I know — Teri is sort of grimacing there, so. Teri Manolio:
I’m sorry. You know, I can’t play poker for very clear reasons, but one issue we do have
to be aware of is that in the solicitation, we ask that the applicants to define that.
And while I suspect they would be thrilled if they knew that we had done some of the
ground work for them. I don’t think it would be up to us to say if this is the group that
will work with CRVR. [laughs] Be sort of the other way around. But that’s a — you know,
that’s a sort of a small issue. Marc Williams:
But we also know it’s a cooperative agreement. Nod nod, wink wink, say no more. [laughs] Teri Manolio:
It is, yeah. And I think it would be very important to have input from the societies,
and this society — I think what we’re anticipating — and Erin, you may want to comment as well
— that the coordinating group or professional society group — I forgot what we called it
— NCRVR would be doing. So it’s a perfect consonance. You want to comment? Erin Ramos:
No, that’s absolutely true. And the only thing to add is that we’ll probably be seeking input
from other stakeholders as well. So we’ll just have to figure out, you know, the right
approach to collecting all that information, and we can work closely with Gene, and then
the grantees once they’re awarded, to figure out the best path for moving forward, but
it would be helpful for us, I think, sooner than later, to get a sense of which organizations
are interested so we can hit the ground running, you know, work with the grantee on moving
forward. Teri Manolio:
Well, and it really did seem that there are many issues that are much bigger that are
affecting the societies than just our little issue of what’s clinically actionable. Marc Williams:
Yeah. Great. Joan Scott:
Yeah, I just want to make a comment that NCHPEG was originally founded around the idea of
not duplicating efforts, and sharing resources and experiences around developing educational
materials for health care provider educators — health care providers across all disciplines.
And it’s sort of interesting because the issue of the clinical guidelines, very early on
in the history of NCHPEG, they decided not to do guidelines because all of the representatives
said that’s, you know, that’s the function of the societies, and so, you know, deal with
the education. So many that tide has changed. But there are lots of health care provider
organizations who are part of NCHPEG who are not represented here today. And so I am sure
that we could — we’d be happy to disseminate the information around this or bring other
organizations to bear on the discussion. And there’s already a cadre of individuals at
a lot of different societies who are thinking about these issues. Marc Williams:
Yeah. Yeah, thank you, Joan. Very good. This has been an extraordinarily productive day,
so I’d like you all to give yourselves a hand for all the hard work you did. [applause] Recognizing that there are some folks that
have earlier flights tomorrow, we’re scheduled until 5:30, and so I’ll give the group a choice.
I have one brief item that I am going to bring up, which is an opportunity that we discussed
in our planning committee call, but then if people wanted to adjourn at this point, we
can do that, and then we would resume tomorrow, probably not spending much time on the recaps
since we essentially just did the recap, but move into the presentations as listed. Alternatively,
Derek has said he could give an update on the payers meeting this afternoon. So how
many would just assume we wrap up in five minutes? How many would like to hear the payers’
perspective? All right. We will wrap up in 5 minutes. So. [laughter] The — you can come back tomorrow. Those of
you who want to hear it, you’re welcome to come back tomorrow. So the — Katherine Johansen Taber:
One quick question before you move on. Is it possible to email the slide to the people? Marc Williams:
These slides? Yes. Katherine Johansen Taber:
Slides, yes. Okay. Marc Williams:
And actually what I — I think what we will do is we will take the information from the
discussion — Katherine Johansen Taber:
Okay. Marc Williams:
— and, you know, use that to kind of reorder and reorganize, and then we’ll send out that
version two. Katherine Johansen Taber:
Perfect. Marc Williams:
At which point, if we don’t have something right, then please comment back and we’ll
fix it before it goes final. So the opportunity we have that I mentioned
in the planning committee call is that the American Journal of Medical Genetics has a
seminar series [inaudible] quarterly seminar, that is an issue devoted to a specific topic.
And I’ve edited a couple of these in the past, and I was talking with the editor and mentioned
that we have this genomic medicine implementation group. And proposed the idea that we could
do an issue of papers on implementation projects that groups around the table are doing. So
this would be an opportunity to basically put a number of things that we’re doing into
a published form through a peer-reviewed journal, but would have the visibility of having a
single-topic issue that I would be willing to edit. And so I just wanted to get a sense
from the group whether that’s something you would like to pursue. Is there anybody that is violently opposed,
other than — well, I’m not sure Dan is violently opposed. He just wants us to make sure we
say something. And he’s in Belgium, so who cares. [laughter] [laughs] Anybody that has objections to moving
forward with that? Or discussion, questions? Can I see a rough show of hands of people
who have a paper in the works that they would like to consider submitting to such an issue?
One, two — implementation. Three, four. Okay, we’ve got an issue there. So I will [laughs] — I will ask those of
you who are interested to — if you could submit just a, you know, a title and a brief
summary of what it is you would like to say, then I can put together a draft table of contents,
propose that to the editor. I think it will be accepted, and we would be looking at the
January 2014 seminars issue, meaning that we would probably be looking to have papers
by September. So, great. I will be in communication with the group. We are adjourned. Thank you very much. Teri Manolio:
I’m sorry, I didn’t — one issue I was supposed to announce for the periodontal microbiome
group. You’ll be meeting in the break-out room, which is Room D, just down the hall
here. The cancer working group is not going to meet. So — but the periodontal group is
next door. Marc Williams:
Right. And it’s equipped with a spit sink, so you’re in good shape there, so. [laughter]

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