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Geoffrey Ginsburg: Good morning. It's a real pleasure for me
to welcome all of you to the Global Leaders in Genomic Medicine Meeting, 2014. It's great
to see everybody here despite the polar vortex, which I think caused both chill and fear among
many. But all of you have really made great journeys to be here from various parts of
the globe and we're very grateful.
As I've talked to many of you, the word that comes to mind about this meeting, for me at
least, is passion. We're united globally by a passion to see how genomic information might
inform us about the biology of disease, as well as a passion to think about how the potential
of the genome to optimize the quality of healthcare delivery around the globe. Secondly, I think
the word that comes to mind is vision. Again, as I've talked to many of you, each of us,
I think, has a vision for having genome-wide information as an integral part as both science
and healthcare delivery, and we have a vision and a roadmap and a pathway to take us there.
And that's what I think we will be seeing over the next two days, is a number of different
visions and roadmaps and pathways to bring genome information into healthcare delivery.
Some of you have suggested that this would be a landmark meeting. I would say it might
be. I think the default is that we have some great conversations, we learn to enrich discussions
on what's going on around us globally, and that would not necessarily be a bad thing.
But I think if we can end the two days that we spend together with a notion on how we
might change and optimize the trajectory of genomic medicine, and even in some small and
meaningful way, then in one, two, three, or five years we might look back and say, "This
was a landmark meeting for the field." So, I think it's up to us.
So 10 years ago, as everybody knows, Francis Collins and colleagues announced the completion
of the first sequencing of the human genome, and I think it was him that actually got us
here in part by encouraging the global community to actually participate in finding the way
that genomics and genomic studies could make its way into medicine. And arguably that journey
began well before 2003, and we are still on that journey, but the past 10 years, as everybody
in this room I think knows, has seen some remarkable accomplishments that bring genomics
into medical practice. You're going to hear undoubtedly about a number of opportunities
to sequence genomes for diagnosis and even for therapeutic selection; the emergence of
novel risk assessment tools and the integration of these tools into electronic medical records;
making risk assessment for common chronic diseases combined with genomic information
in a much more powerful way to understand which populations need preventative care and
further treatment.
The cancer genomes have given us insights not only into the biology of the disease,
but ways to better prognosticate and select therapies; pharmacogenomics, both in cancer
as well as the use of germline sequence information and genotypes to select drugs; and the emergence
of a series of targeted therapies, the likes of which were never possible prior to the
use of genomic information. The United States FDA boasts approximately 120 drug labels with
genomic information to guide the use of those drugs. Ten years ago that number was probably
around four or five. But the challenges, I think, and we recognize that this information,
if anything, is seldom used, and the question is how do we actually encourage the adoption
of this type of information to day-to-day clinical practice.
Some of us were involved in a meeting here in the U.S. a couple of years ago, which was
a similar meeting of centers and institutes involved in genomic medicine across the United
States, to begin to understand some of the challenges and barriers, and this publication
earlier this year highlighted those. I think it reflects the kinds of discussions we hope
to have over the next two days about developing evidence that shows the value and benefit
of genetic and genomic information in the care of patients. The engagement of the institutional
leaders of which you are a major part, but also other institutional leaders and physician
leaders across the globe in understanding and beginning to be disciples of this information,
educational initiatives, and with the proliferation of electronic medical records, the challenges
of how to fully integrate genetic information and provide information to -- give information
to providers in adjusted time format that allows them to make robust clinical discussions.
And perhaps most importantly is to create a viable financial model that doesn't simply
add costs of new technologies to the things that we're already doing, but that can take
away costs and remove waste from the system.
So we're here today with 25 nations represented, about 50 of you have traveled extremely long
distances to be here, and again, as I said, we're grateful and honored that you could
be here. It's also clear from this map that we have some unrepresented regions of the
globe. That wasn't necessarily by design. We knew coming into this that we would not
be able to reach out to all of the pockets of expertise of genomic medicine around the
globe, but we hope that if there is to be any future meetings coming out of this, that
we would have -- that this would become a magnet for others to bring together those
nations and areas of the globe that are not appropriately represented.
Many of you filled out a questionnaire that we put to you, some questions about what's
the state of the art in your particular organization, or nation, or region of the globe. This is
a non -- a semi-quantitative view of some of your responses. What you see on the left-hand
side are a number of initiatives or platforms that we asked whether they were currently
being used in the clinic as far as genomic medicine is concerned, and today, as you can
see, there are a number of sequencing technologies that appear to be present in 50 percent to
two-thirds of your organizations and specialized centers. There are also a number of technologies,
particularly these platform technologies, that are hardly used at all in half to two-thirds
of your organizations.
But, we also asked you where you want to be three to five years from now, and as you can
see, there is sort of a right shift in this data suggesting that not only will there be
a proliferation of sequencing and other technologies in specialized centers in your nations for
the most part, but clearly, widely available an interpretation might be in less specialized
centers and community-based practices, perhaps, a form of genomics as well as family history
genetic counseling, electronic medical records, and clinical discussion support. I think that's
a terrific aspiration. The question is how do we get there; and that, I think, is one
of the things we want to spend some of our time thinking about the next two days.
We also asked you what you perceive as the greatest challenges in your particular organization
or region in the world, and not surprisingly, as we found even in our United States meetings
on this topic that evidence is critically important for mobilizing genomics into medicine.
Reimbursement frameworks that allow for these technologies to be used and paid for. Bioinformatics
and the creation of an electronic medical structure. Access to point of care information
and education that enables clinical decision making and clinical decision support. And
many of you also asked where should we be investing.
So as we thought about this meeting -- our organizing committee thought about this meeting
we felt that there were several outcomes that could take place. One might be to some sort
of international body or steering committee that could begin to think about a more collective
agenda that is enabling for genomic medicine implementation. There was also the possibility
that if we had specific ideas to implement, that we might charge some working groups,
again, globally-populated working groups, to think about what the implementation agenda
should be. Certainly we hope that there will be opportunities for international collaboration
and maybe some pilot projects to expand on what we're going to hear the next two days,
and we certainly would welcome your input about other ideas and activities and actions
that could come from this meeting.
Our agenda is packed. And we're going to do our best to stay on time. You all have copies
of this. I'm not going to go through it in great detail, but we attempted to hear from
many of our international colleagues what was happening in their institutions and organizations
in terms of genomic medicine implementation. We also want to share with you some of those
activities that are taking place within the United States. This afternoon we'll have a
panel discussion. We hope to have six or so global leaders in genomic medicine really
have a discussion with us about ideas for implementation on a broader scale, and tomorrow
we'll have some breakout groups that reflect really your requests for prioritization of
some of the challenges. So we're hoping that action-oriented outputs will come out of those
breakout groups that will lead to things we can do collectively after this meeting is
done.
These were the meeting objectives that we put in the invitation letters to you. I think
they're quite obvious. I'm not going to go through them. But I do think we should be
benchmarking our activities coming out of this meeting with the objectives we set forth.
I thought this would be a good time for us to introduce ourselves. I know this is going
to take a couple of minutes, Teri, you've already been warning me about my time, but
I would just like each of us to just maybe stand up, say your name, and your organization
and let's just go around the room. It'll take a couple of minutes, but I think it's important.
Teri Manolio: I'm Teri Manolio from the Human Genome Research
Institute.
Eric Green: Eric Green, National Human Genome Research
Institute.
Francis Collins: Francis Collins, director of the National
Institutes of Health.
Dan Roden: I'm Dan Roden from Vanderbilt.
Rex Chisholm: Rex Chisholm, Northwestern University [inaudible].
Irene Norstedt: Irene Norstedt from European Commission.
Marc Williams: Marc Williams, Geisinger Health Center, also
at [inaudible].
Male Speaker: [inaudible]
Male Speaker: [inaudible]
Naoko Okamura: I'm Naoko Okamura from the Japanese government,
Cabinet Secretariat.
Male Speaker: [inaudible]
Satoru Miyano: I'm Saturo Miyano from Human Genome Center
of the University of Tokyo, Japan.
Victor Dzau: I'm Victor Dzau from Duke University.
Male Speaker: I'm [inaudible] from Genomic Medicine D.C.
[spelled phonetically].
Male Speaker: [inaudible]
Male Speaker: [inaudible]
Male Speaker: [inaudible]
Mary Relling: Mary Relling, St. Jude Children's Research
Hospital in Memphis.
Julie Thompson: I'm Julie Thompson [spelled phonetically]
from the University of Florida.
Vajira Dissanayake: I'm Vajira Dissanayake from the University
of Colombo in Sri Lanka.
Male Speaker: I'm [unintelligible].
Female Speaker: Good morning, everybody. My name is [inaudible].
Male Speaker: I'm [unintelligible], chairman of [unintelligible]
National Institute for Medical Research.
Male Speaker: [unintelligible], I'm the director of the
Institute of Genomics and Bioinformatics [unintelligible].
Female Speaker: [inaudible] in the United States.
Male Speaker: Steve [unintelligible] from Intermountain
[unintelligible].
Male Speaker: [inaudible]
Male Speaker: Hi, I'm Frank Gurd [spelled phonetically]
from the National Research Fund in [unintelligible].
Male Speaker: [unintelligible]
Gert Matthijs: Good morning, I'm Gert Matthijs from the Center
of Human Genetics in Belgium, and I'm the [unintelligible].
Marc Abramowicz: Hi, I'm Marc Abramowicz, I'm the director
of Medical Genetics in Brussels University Hospital.
Patrick Tan: Good morning, Patrick Tan from [unintelligible]
Singapore.
Male Speaker: [inaudible]
John Wong: I'm John Wong from the National University
of Singapore, National University Health System. I co-chair the [unintelligible].
Male Speaker: [inaudible]
Male Speaker: Good morning, I'm [inaudible].
Bruce Korf: I'm Bruce Korf, University of Alabama at Birmingham.
Reed Pyeritz: Good morning, Reed Pyeritz, University of
Pennsylvania [unintelligible].
Heidi Rehm: Heidi Rehm from Harvard Medical School and
Partners Health Care.
Paul Lasko: Good morning, Paul Lasko from the Canadian
Institutes of Health Research.
David Ledbetter: David Ledbetter, Geisinger Health System.
Stephen Kimmel: Hi, I'm Stephen Kimmel from the University
of Pennsylvania.
Male Speaker: I'm [unintelligible], advisory department
of biotechnology in India. I'm responsible for infectious diseases and [unintelligible].
Kevin Moses: Kevin Moses, Science Funding for the Wellcome
Trust, from England.
Male Speaker: Michael [unintelligible] from Wellcome Trust.
Hello, Kevin Young [spelled phonetically], from Genome Canada.
Female Speaker: [inaudible]
Howard McLeod: Howard McLeod from Moffit Cancer Center.
Gadi Rennert: Hi, I'm Gadi Rennert, from Israel. I have
many different hats, some of them [unintelligible].
Alan Shuldiner: Good morning, I'm Alan Shuldiner from the
University of Maryland, Baltimore.
Erwin Bottinger: Erwin Bottinger from the Icahn School of Medicine,
Mount Sinai in New York.
Female Speaker: [unintelligible] from the Institute of Medicine.
Catherine Ervitz: Catherine Ervitz [spelled phonetically] from
the National Human Genome Research Institute.
Male Speaker: I'm [unintelligible] from the National Human
Genome Research Institute.
Male Speaker: [unintelligible]
Geoffrey Ginsburg: Welcome, thank you. That was great. Sp, speaking
of thank yous, this is a complex meeting, as I'm sure you can imagine, and I just wanted
to highlight the people, both Duke University, NHGRI, and the Institute of Medicine that
have made this meeting possible, and particularly Reader Chambers, who's worked with me and
Teri Manolio to bring together I think a series of complex logistical issues to make this
meeting happen.
Before we move on to the -- with the agenda, I just wanted to also do some, I guess, housekeeping
items. I wanted to remind everybody that this meeting is being video cast live, thanks to
the team in the back, which means that the people that are watching this need to hear
your remarks, so there are microphones that I would encourage you to use if you have a
comment to make or a question to ask, and if the microphone is not accessible, whoever
is receiving the question should repeat the question so those on the web could know what's
being asked.
We're going to try to be on time. Teri has volunteered to monitor our speakers and give
them --
Teri Manolio: There's also a blinker.
Geoffrey Ginsburg: Yep, and this device will also encourage us
to remain on time with our remarks. There's a coatroom out across the great hall and to
the right, so for those of you who need to park your coats or bags, there's that facility
there, and there are restrooms also out this door and to the right down the hall just before
you get to the stairs.
I also want to note that there were some mistakes in the booklet some of you have pointed out
to me. I wanted to apologize that we weren't able to get the most accurate information
at the time of printing, but if you give us and Rita Ortege [spelled phonetically] the
corrected information, we'll make sure the electronic version that we distribute after
the meeting has all the corrected information.
With that it's my pleasure to introduce our next speaker, Dr. Francis Collins, who, as
you know, was the leader for the completion of the Human Genome Project. At that time
he was the director of the National Human Genome Research Institute. He is now the director
of the National Institutes of Health, and as this slide indicates, he is a risk taker.
He is a --
[laughter]
He's an awardee and an advisor to President Obama, and of course everybody knows that
he's a rock star.
[laughter]