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Bruce Korf:Well, first, I have to thank Marc. I had no idea how complicated this could be.
[laughter]
So this highly concentrated group maybe didn't prioritize as much as we were supposed to,
but I think you'll see that we came to what I think were a handful of actionable items.
We took this sort of paradigm as our way forward, which is, when you think about education and
workforce, there are different sort of layers that you need to consider. The genomics professionals
-- that could be physicians, counselors, nurses, laboratory geneticists, informaticists -- you
could go on and on. So, we had to, in the short time we had, package it into a single
category. Other healthcare providers -- physicians, nurses, and so on, and then the public. We
actually toyed with adding policymakers, administrators, insurance executives as a fourth layer, and
we just didn't have the time to get into that, but it may well be one that should be revisited.
So then we tried to define what were the priorities, what were the opportunities, and what were
the actions in each area?
So this is what we came to for the professional genomics workforce. The priorities, first
of all, were to be sure that we had an adequate workforce. And there was a little debate among
members of the group exactly how many such people you need. You know, one view of it
is that there will never be enough geneticists to do all the genetics and genomics, and therefore
you need to train everybody else to do it. Another perception is, well, if it's that
important, you should train more people to be prepared to do it, and I personally think
the truth lies somewhere in between those two, but that was an issue. And then the point
was made that the discipline is not recognized equally in all parts of the world. So, in
some countries, there is a very well-defined training path for a geneticist, others not.
Then there's the issue of the generalist geneticist versus the specialist. So, for example, do
you need a group of people who are expert in cancer genetics, and do you need a group
of people who can interpret a genome sequence wherever it happens to take you, which means
you need to be capable of responding across many different specialties. And to what extent
does a professional geneticist serve to interpret the cancer genome versus an oncologist and
what kind of training does it take to do it? And it comes to the idea that there could
be various sort of paradigms for what constitutes a genetic professional. A point was made that
in some countries, it might not be sort of culturally acceptable for a genetic counselor
to provide information because people expect to hear from a physician when it comes to
medical information, and in other countries, the culture is such that people are more accustomed
to absorbing medical information from non-physicians.
So, those were deemed the priorities in terms of what we thought were opportunities to actually
compare and catalogue what are the training paradigms that exist for geneticists in different
parts of the world where this may not be so well-defined to identify what might be viewed
as models and best practices, and to disseminate them to areas that may not be as far along
the curve in terms of training. There have been some workforce surveys; I'll come back
to that point. Actually, the word "survey" is a bad choice of term -- workforce studies,
which is a formal sort of discipline to create those. And some places have done that, probably
not updated to the genomic era really, but still, it's been done in some places and probably
not in others, and to summarize what those are. Realize that there may be new paradigms
for providing services, telemedicine in the broad sense of electronic means of collecting
and then disseminating genomic information to end users. And then there was the point
of defining what the certification pathway would be for somebody who would be providing
lab services, again, customized to the culture of the individual country in terms of what
the sort of authorities are for permitting particular activities to happen in a medical
context.
So, we kind of parsed all this into a set of next steps, the first of collecting data
on the professional workforce and training paradigms in different countries. So who has
a formal training pathway in medical genetics, whether it's for the lab or for the clinic,
who does not, and what do those pathways look like? And then to conduct formal workforce
studies. You know, in many disciplines, they can tell you to three decimal places how many
surgeons you need per capita in a given population. And there are places that have looked at that
question in genetics, but it needs to be done probably in this genomic era now because I
don't think too many of them have been updated for that. To share competencies, because that
-- competencies are a way to kind of cut across the different specific training paradigms,
because you could say, well, what does somebody need to know how to do, and then you can decide
what kind of a somebody that is. It might be a physician in one culture and it might
be a genetic counselor in another, but to define the things that have to happen. I'll
mention that the American College of Medical Genetics and Genomics has done this in the
U.S., to define the competencies for the physician medical geneticist that was published in Genetics
and Medicine a couple of years ago, and now has surfaced as the -- what are called milestones
that are used to judge the medical genetics training programs. So, things have come a
fair distance.
And then finally, to develop some kind of genomics academy because the problem that
many of us are beginning to realize is that, I think at least, that medical geneticists
know more than most providers about interpretation of genomic information. They at least have
the idea that not all mutations are pathogenic, a kind of basic notion that may not be in
currency among all health providers. But that being said, most were trained in the single
gene paradigm, and the paradigm has obviously shifted, and so, again, ACMG is looking at
setting up a genomics academy to try to bring those professionals up to the next level,
and this may be something that would have currency outside the U.S. as well.
Now, as to other health providers, I think all of us would agree that however many geneticists
there ever are, you need to change the competency and also the attitudes of health providers
who are not professional geneticists, because they certainly would be in a position sometimes
to recognize patients who may benefit from testing or from other kind of genomic interventions,
to support individuals in whom these have been done, and maybe even sometimes to initiative
and interpret things. And at the least, they have to have as much knowledge and literacy
as their patients do, and a recognition of where this can contribute to care.
So the priorities here, first of all, were to define what exactly are the competencies
expected of health providers who are not professional geneticists, and, as Teri pointed out, a working
group has actually defined these competencies for the generalist physician, if there's such
a thing as a generalist physician. And it was intended that that would serve as a foundation,
then, to do this for various kinds of medical specialists. So that, in some ways -- I don't
know that we can say it's done exactly, but we've taken a pretty significant step towards
doing it. And then I guess the other point of this was that there may be things that
are unrealistic to ever expect physicians to actually be able to do without a lot of
point-of-care hand holdings, so the notion of point-of-care decision tools becomes important,
something that came up in the last group.
So, some opportunities. Examine curricula at all different levels: medical school, residency,
post-graduate, whatever, to determine where genetics competency training can be accommodated,
realizing there are very different training paradigms. For example, in the U.S. where
there's a -- usually a four-year undergraduate experience and then a four-year medical school
experience, you can expect matriculating students to come in with a certain competency, maybe
in basic science at least, whereas in a system where you come out of high school directly
into medical school for six years, those expectations would presumably be different. Then to define
what genomic competencies a matriculating and a graduating medical student should have
-- now, some effort's been made along this line, again in the U.S., through the AAMC,
HHMI competencies for -- in basic sciences for the physician. That kind of effort, though,
would need to be customized to particular educational paradigms in different countries.
And then we kind of stuck in here a point that really could be another layer, which
was to advocate for policies that encourage implementation of genomic medicine services.
This really comes to the point of talking with the policymakers and others who are defining
reimbursements, the idea being that just about nothing will happen if nobody's willing to
pay for it.
So, next steps that could be imagined. One would be to deploy novel educational approaches.
One of the things this addresses is the notion that some places are better equipped than
others to incorporate genomics into a curriculum, wherever it might be -- that is, a medical
school, pre-medical, or post-graduate, or residency. But if we were to develop tools
that could be customized to the local environment but then used in this way -- the idea, for
example, of online courses that could be accessible anywhere in the world and customized, perhaps,
to the particular needs of a given region, but using materials produced by people who
have a lot of experience and in places where this is already up and running could be a
valuable resources to help bring those up to speed who are not in that kind of situation.
But then also it was recognized that some of the materials you develop in one area just
may be not suitable for use in another. We could imagine that you could create a case
that reflects a disease that is very common in one part of the world and never seen in
another part of the world, meanwhile missing a medical condition that is very important
in some areas that I, for example, would never think of. So, one way around this is to develop
templates and sort of paradigms for how you create case-based learning materials, and
then try to train people in different regions to actually deploy those, but modify them
so that they're relevant to the population at large. And then that really comes down
to somewhat the third point, which is to use that workforce that might exist in various
places to help educate other physicians. An example is trying to develop courses that
can be given at professional subspecialty society meetings, for example.
So the third layer that we considered is that of the public, and the priorities here are
for people to be in general better informed and more literate, and it's really very similar
to the issues faced by their physicians. I guess you could argue their physicians should
know at least as much about genomic medicine as their patients do, and their patients,
meanwhile, should be equipped to make wise personal decisions once presented with genomic
information. So a lot of the issues are similar to ones already discussed: to adapt products
that may exist to different cultures, to extend it across as broad as possible a sort of array
from undergraduate, or even secondary, and even primary school on up, and also to engage
lay support organizations -- patient advocacy groups, for example -- in educational activities
that would be public facing.
So among the next steps that were identified was to provide a clearinghouse for already-existing
educational approaches that have been used for the general public, and then to showcase
the application of novel kinds of approaches, developing apps, for example. Some of what
we saw this morning would be an example of novel kinds of things that could be adapted
to other environments. To then be sure that materials that are generated are customized
to the culture of the target audience; that needs a lot of local input, so this can't
be just all centrally directed. One thought was to extend DNA data to be -- I guess it's
really meant to be international educational event. I think it probably already is to a
degree, but certainly capitalizing on the attention that one can draw to that particular
day would be an opportunity.
So we didn't try to -- we didn't employ the principles of democracy here, and so we haven't
voted on priorities, and I would argue we've probably put more on the table than is going
to be digestible. And so we can leave it to the group later to decide which of these to
put the highest priority to, but anyway, this is what our group came up with in the short
time we had.
Geoffrey Ginsburg:Thanks, Bruce. I guess let's ask the audience about things that the group
may not have considered. Is anything obviously missing from this framework?
That would be a resounding no. And so learning from the experience of the last --
[laughter]
Just shows that we are adaptable.
[laughter]
I don't think we're going to take a vote in the -- but I would ask if you, as the leader
of this group, were to, you know, to give us a sense of where should we start, because
this is a very broad aspirational set of initiatives. Where would the focal point --
Bruce Korf:See --
Geoffrey Ginsburg:I'm not saying that we -- in any of these things that we're taking anything
off the table. It's just -- we need a starting point, and I'd like your guidance as to where
the starting point might be.
Bruce Korf: All right, so now you're asking me personally,
not speaking for the group and --
Geoffrey Ginsburg:Well --
Bruce Korf: -- or to at least translate what --
Geoffrey Ginsburg:I think there's a synthesis there. I hope --
Bruce Korf:Yeah. So I guess I would've put the kind of stars on a couple of things. One
is trying to define the workforce needs, I think, would be a very important area, and
I know there's a formal process for doing that. It's been done, as I said. I think it
probably needs to be done on a wider scale. But if you don't have data on what the needs
are, it's a little hard to advocate for change. So, I personally think that trying to define
the workforce needs would be a high priority. And the second priority, I guess in my mind,
would be to take existing or encourage the development of new educational tools that
can be disseminated as widely as possible so as to empower groups and people that may
not have direct access to things so that you can make their work easier.
Geoffrey Ginsburg:Is that okay with other members of the group? I assume that's --
Bruce Korf:Our committee okay with that?
Male Speaker:Yes.
Male Speaker:Yes.
Bruce Korf:I miss anything that should be added? Okay.
Teri Manolio:And those -- sorry. Those existing and new -- the existing and new educational
tools were for the public or for --
Bruce Korf:Well --
Teri Manolio:-- anybody?
Bruce Korf: -- in principle, anything. I guess if I had
to point to where the greatest priority is, it's, well, arguably it would be the general
kind of non-professional physician you could --
Teri Manolio:So --
Bruce Korf:-- you get different perspectives on that, but, you know, if you have a group
of geneticists and nobody calls them, you're going to have a not terribly effective approach.
The truth is, it's very hard to dissect out. These are three intertwined things. If the
public isn't interested, it's not going to happen. If the general medical profession
doesn't believe in it, it's not going to happen. And if there's nobody that knows how to do
it, it's not going to happen. So therefore, I think you need to be looking at all three.
Teri Manolio:Yep.
Geoffrey Ginsburg:Great. Thanks, Bruce. The next is evidence generation. Is it Heidi or
-- a round of applause.
[applause]
[laughs] Sorry. Not for lack of appreciation. Thank you.