Hi, my name is Larry Thompson and I am the Communications Director at The National Human
Genome Research Institute of The National Institutes of Health. And with me is Dr. Eric
Green the Director of The National Human Genome Research Institute. And we're here to talk
today about a strategic plan that will be published in February 2011 that describes
essentially the future of the field of genomics. Welcome Dr. Green. Thank you for joining us
for this conversation today.
Absolutely.
So, Dr. Green for whom did the National Human Genome Research Institute write this plan?
Who is the audience?
So our strategic plan probably has multiple audiences. For starters, the genomics community.
This is a community of scientists I think that for many years that followed a series
of strategic plans as sort of a vision if you will about what the most compelling opportunity
in genetics and genomics for the next set of years. But I think there are other audiences
as well. I think those audiences include students. Students both in the basic sciences but also
in the clinical sciences and individuals who are thinking about the future clinical medicine.
But also students in law, students in ethics, students in sociology, public policy... Genomics
is perfusing many areas of society, as well as science, and the next generation of scholars
need to be much more aware of what's happening in this field. I also think the audience includes
those of us in the institute we need to think about what the most compelling opportunity
in genomics are and how we want to tailor our programs to maximize the benefits and
the opportunities so having that document prepared by us is really created an opportunity
but think critically about what we should be doing as an institute.
So tell me shortly, briefly, what the central vision that is described in this plan?
This one, that we are publishing, will be the 2011 Vision for Genomics Research by NHGRI
is much more clinically oriented, thinking much more about clinical applications of genomics
and many ways more expansive than the earlier visions were, but at the same time, starts
to get us closer to the kinds of promises that were made originally when the Human Genome
Project was first envisioned.
So this plan sort lays out a series of steps that areas and fields of research that you
think need to be traversed to be able to get to that promise of having an impact on human
health. How would you describe what the vision is and how to you go through those steps to
get through?
We describe these five domains, some of which that have been very active this past decade,
but others are more far reaching, but nonetheless, we want to think about research agendas that
will really inform us and make us more sophisticated in those domains. It starts at the most proximal
end of that progression of simply understanding the structure of genomes, sounds like what
we did in the Human Genome Project and certainly included activities that have been going on
since the Human Genome Project. But then it’s about understanding how the human genome works
and advancing our knowledge of genome function and that was very important and certainly
was a major emphasis of our strategic vision starting right when the genome project was
completed. The third domain starts to apply that knowledge of genomics to advance our
understanding of human disease. And here is the progression that in many ways the fields
of genomics is most aggressively pursuing really using the tools and technology of genomics
to better understand the molecular basis of disease. And the fourth domain then moves
you from having that knowledge of disease to actually changing medical science by advancing
how you approach medical science. There you start to see clinical applications but you
can’t stop there, and this was one of the key things we heard from our colleagues in
genomics community and members of the biomedical research community who has had experience
in taking discoveries all the way to the bedside. Now there is even a fifth domain that one
needs to contemplate and that’s actually demonstrating effectiveness of these advances
to the actual delivery of healthcare. Just because you have a medical advance doesn’t
mean that it’s actually going to prove to be effective when actually executed in the
healthcare delivery study. You need to actually have a research agenda that studies that last
area if you’re ultimately going to have an impact on clinical care.
How are you going to implement something across the vast scale of … it’s not something
the genome institute can fund all by itself?
It’s something that the NIH or even the United States alone will pursue. This is a
global effort and it’s really important just to recognize that many of these things
we’re talking about will not be just confined to the genomics community. Genomics is perfusing
all areas of biomedicine. This is I think fantastic and most importantly many of the
things that we talk about in our strategic vision will be carried out by other fields
of study. Some cases in partnership with us, and some cases they don’t even need to be
in partnership with us. The way you execute it is we’ll figure out what we do best as
an institute. We’ll work with our colleagues here at NIH at other institutes to think of
what we can do with partnerships and there are some things that we expect other agencies,
other organizations, and other countries to jump in and help as well.
But there is a definite sense to this plan that there is a much greater focus on clinical
application that having an impact on advancing human health, may have previously been made.
No question , there’s no question. This is a transitional point in genomics in many
ways, I firmly believe that we had to wait for the right time to really believe that
we knew enough and that we had the tools and technology in hand to start that transition.
And much of this being catalyzed by technological advances especially in DNA sequencing methods
that have seen a complete change in the cost models of sequencing genomes such as the cost
of genome sequencing have been plummeting for the past four years. And as a result of
that what seemed way out there and decades away now all of sudden seems to be in reach
and as a result it creates new opportunities and puts us into a new landscape that was
previously unimaginable and quickly puts us into an arena where clinical applications
become very realistic.
Is it a sense of urgency within the leadership within the field to try to figure how to take
the very powerful insights that are coming out of genomics and have them have an impact
in the clinic?
I think the sense of urgency is as much as a realization that this can truly change the
practice of some aspects of medicine and you can point to very specific examples and I
think the one’s that you are going to see are most clear in the next two or three years
because we are already seeing it in cancer, for example. Cancer is a genomic disease and
the fact that we can now use these powerful new sequencing technologies and comprehensively
catalog genetic changes that take place in a tumor and have that information point to
the best path forward for treating a given individual is very compelling. And while there
are a handful of examples where that’s the case so far, we have in place we think programs
that will reveal many opportunities for making that progression in different types of cancer
in the next five years. And that make one feel very urgent because you feel like this
truly can make a difference.
Genomics has been very much driven by technology, how big of a role will technology play in
achieving that vision that is laid out in the plan?
It’ll continue to play a very large role. I think its part of the essence of genomics,
technological advances. And so far in the past five years for example, the real push
in technology has been in the area of DNA sequencing so we could sequence genomes very
cost effectively. Now that just creates a new bottleneck that has to be dealt with and
we need new technological approaches to solving those. For example, when you can sequence
genomes very inexpensively it results in a massive accumulation of data. So much so that
it actually overwhelmed investigators which overwhelmed clinicians so we need technological
advances to deal with all that data to make that information interpretable to reduce it
to practice it in a clinical setting that all requires major technological advances.
So given that complexity and the visionaries for this field talks about the advent of personalized
medicine at some point where one size doesn’t fit all, but these are a lot of complex things
to still sort out, how long will it take until personalized medicine will become a reality
something that we will see in the doctor’s office?
So a lot depends on what you mean by personalized medicine it’s not going to happen all at
once. I would contend that it’s already starting to happen. I think you will see an
increasingly growing lists of genetic tests that are relevant as part of standard of care.
I think you will see interdiagnostic tests developed and implemented for disorders such
as cancer before you see for lots of other disorders. Already we are seeing individuals
going to get their genome analyzed not through their doctor’s office but through companies
directly. I think you’ll see a progression were at some point that it might be done more
in doctors’ offices but there are a lot of steps before we could get to see that routinely.
So I don’t think it will be a year or a moment that all of this will happen. But what
we want to do at NHGRI is facilitate and establishment of a research agenda that will help us answer
many questions that need to be answered affectively before we can really think about implementing
this on a large scale. But we think we have a much better idea of what some of those questions
are now we want to build a research program to help answer those questions.
So sort of the last question, are you satisfied with the way things are progressing and what’s
been learned so far?
I’m absolutely satisfied, I think there have been spectacular advances in the field
I think what we tried to describe in the strategic plan is not only a capturing of what we’ve
done so far but to show the confluents of all these things that have happened the far
reaching set of things that can now be approached for the first time and the compelling reasons
why we want to go there because of the applications it can have for medical care.