Webinar: Planning for the Future of Genomics
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Webinar: Planning for the Future of Genomics

Sarah Harding: So now I would like to turn
it over to Dr. Allen Guttmacher who is the Acting Director of the NHGRI. And please take
it away. Allen Guttmacher: Thank you very much Sarah.
And thank you all for joining us both for the webinar and I hope for joining our planning
process because as I will try to make clear, we really want this process to be a very inclusive
one. We know that there’s a lot of wisdom about what kind of research we should be supporting,
where genomics as a science should be going, that resides outside the NIH. So we want to get as much external wisdom
added into this process as possible because as I will also try to make clear, this is
not just about planning where does the NHGRI go over the next few years, what we’re really
trying to figure out is where does the science, the policy, the other areas that we’re involved
in, where do they go over the next few years. We’re most interested really in where they
are going because if we can figure out where genome research is going, where it’s applications
to health and healthcare are going, then we can figure out best exactly what role our
institute NHGRI should play in advancing those kinds of things. But first we really need
to understand where all of the science is going. So that’s a lot of what I’ll be
talking about with you this afternoon. In terms of just an overview of our planning
process, you know, if you throw the word vision in there, because this is not the kind of
planning process that’s going to get way down in the weeds. We’re really trying to
be somewhat visionary in this, both in terms of taking a sort of 30,000 foot level look
at things to begin with so we will clearly get down somewhat into lower levels as we
talk about implementation. But also that we’d like to come up with
a plan that truly is visionary. That is one that looks forwarded, that is ambitious. That’s
part of the history of the field of genomics and certainly part of the history of our institute
that we try to be ambitious and reach fairly high. Often the, you know, sort of the reach
for the stars kind of thing which has guided much of genomics. We’d like to see that
continue. So what we really try to do here is to get
a wide ranging and as I said before inclusive assessment of really what is the state of
the art in genomics currently, and where the field should be going over the next several
years. We’re purposefully not saying this is a five-year plan or something like that
because sometimes the timeframe can be limiting and also sometimes once (unintelligible) something
that take four years or five years and it’s hard to predict that anyway. So we’re really
talking about the next several years, you might think of it as five to ten years, where
will the field be going. And the purpose of this is to help us and
we hope help others plan their research investments, their research efforts, in terms of how do
we further the contribution of genomics to improve both human health and other areas
of society. As you’ll hear in more detail in a little while, this is an ongoing process.
We hope to complete it late next year 2010. As a kind of context for this and suspect
many of you that are on the phone who were involved in this process back over an 18 month
to 24 month 2001 through early 2003 was the last time that NHGRI embarked in a planning
process. And that one led to a publication in Nature that I’ll talk a little bit about
more in a moment, which included this somewhat iconic vision that sort of summarized in many
ways the vision document in terms of the application of genomics to biology to health and to society. And it’s from that background that we approach
this planning process. The last planning process was very successful in our eyes. It included
over 600 different individuals, something like 11 different conferences, meetings, et
cetera, and really involved experts who – a wide range of expertise in terms of genomics
applications to genomics to biology to medicine, clearly to society, ELSI issues that is ethical,
legal and social for patients, genomics in general, and a number of other areas. For that one we had planning meetings in 2001,
2002, a series of workshops which culminated in this publication in Nature in April of
2003. This is that iconic illustration. I show it for two reasons. One is that there
is a clause in the contract of everyone who works at NHGRI you’re not allowed to give
a talk without showing this slide. But second of all because it really does represent
in a single slide sort of the essence of where we came up in that planning process which
is to think about the future of genomics back in 2003 as resting on the foundation of the
Human Genome Project which at that point had literally just been completed, and to think
about its application, these three sort of floors of biology, health and society, but
floors that interlink with each other; partly because of crosscutting elements such as education,
healthy issues, training, computation of biology, technology development, and other kinds of
resources. And also you’ll notice there’s an open
door in the picture there. That was important to us to show that this again stresses both
the process for genomics as a field we thought needs to be inclusive. It needs to include
people from very many different disciplines. It needs to include people who are not scientists,
who are simply members of the public who are interested or whose lives will be affected
by genomics and that includes just about all of us. I think to our – probably not to our surprise
as much as our delight, that planning document, although it’s now over six years old, it
held up very well with time we think. Nonetheless even though we still pull up our drawer –
out of various drawers where we have it hidden away and look at that document, the field
has advanced so markedly in the last six years that while that document doesn’t really
feel dated yet, there clearly are some new areas that we could explore, there may be
some priorities that have somewhat shifted over that period, so we thought it was important
to embark on this new planning process. Just as, again, a frame for this, this comes
from the publication back in 2003 just to look at the – sort of the timeline of genetics
from the beginning of the Human Genome Project in 1990 through 1996 and then through 2003.
The most important part of this illustration for that publication was probably not noticed
that easily, but it’s this little thing in the box here, “to be continued,” that
a fundamental part of our thinking about genomics is that it really is about the future and
that that planning process as well as the current one while it needs to be based on
the reality of the present, needs to be really forward-looking, needs to be thinking about
the future rather than simply restating where we are today. So what about the current planning process?
Well it really has three phases, the first of which has been completed. That was to put
out for comment four white papers, and I’ll get into more detail about those in the next
slide, that we had drafted both by people who are staff members of NHGRI and also some
external experts. And to put those questions out on the web to then ask for community input. And there was a several month period where
people were invited and we got lots and lots of comments about these questions. Because
we thought the first thing to do rather than saying, “Gee where should genomics be going?”
was to think what are the questions that genomics should speak to? What are the kinds of things
that we should be able to answer with genomics approaches and tools in the future? What are
the questions that are really basic to where we should be going? So we wanted to try to perfect those questions
and we think with the community input we’ve done a pretty good job if not perfecting them,
at least of optimizing them. So where we are now in phase two is that these
optimized questions are up on the web and if you just visit www.genome.gov you can easily
find the planning pages there on our website which will take you to these draft white paper
questions, and ask through the end of this month, so through June 30, we’re collecting
community responses to the revise questions basically saying, “Gee if these are the
questions, how would one answer the question?” And again we would like a wide range of folks
with a wide range of expertise to help us figure out what are the best ways to approach
those questions. What we will next do, once we’ve received
all those by the end of this month, is then review all the comments and look at those;
based on the comments we’ll probably reach out to some specific people for further comment,
expertise, et cetera, but to use that information to figure out what are the other planning
activities that we need to really be able to understand these areas. Do we need to have
as we did some years ago perhaps a variety of workshops, I got more to that theme in
a couple of minutes, that would help us flesh this out over the rest of this year and at
least the beginning, if not more than that, of next year. So the four white papers are on these areas.
The first is about applying genomics to clinical problems, diagnostics, preventive medicine
and pharmacogenomics. There’s another one applying genomics to clinical problems in
terms of therapeutic. Another on education and community engagement. And another on the
future of genome sequencing. Clearly we know that these four areas are
not the only areas in genomics we need to pay attention to, but we thought they were
four crucial areas and ones that we didn’t already have planned workshops, as we’ll
talk about in a moment, that would be helping us with. So that we really thought that again
just putting these out on the web, new way for us to do this. We thought an important
one again in terms particularly being inclusive in getting the best wisdom that’s out there. So to take a little bit of a look at each
of these, the one in terms of applying genomics to clinical problems in terms of diagnostics,
preventive medicine, pharmacogenomics, the kind of things that’s looking at is how
do we integrate genomics into the clinic. How do we do that in a way to maximize benefits
and minimize harms to patients? How do we do that in a way that will actually maximize
its use not just by docs but by all healthcare professionals? What about the insurance reimbursement process
in terms of genomic medicine? How will that work? Special populations and high risk groups,
are there special issues involving clinical care in terms of preventive medicine, in terms
of pharmacogenomics, et cetera, for those groups? What about the whole issue of direct
consumer genetic testing which of course is becoming more and more common and clearly
if one looks forward the next few years is going to be yet more ubiquitous? In terms of applying genomics to clinical
problems in therapeutics, what are the best ways to use genomics technologies, genomics
approaches, genomics knowledge, to develop and apply therapies for disease? Are there
ways we can develop new kinds of therapies using genomics approaches? Are there ways
to apply those therapies and even more conventional therapies to disease and to individual patients
in ways that would be particularly useful? Where are the gaps in the overall infrastructure
in terms of doing this, in terms of sample collection, in terms of patient populations,
molecular libraries, that is large libraries of small molecular compounds that are very
important in terms of doing this? Where did those gaps exist for the kinds of things we
should be thinking about filling gaps over the next years? And what can we do in terms
of an education initiative to contribute to the successful translation of genomics in
this area. In terms of education and community engagement,
for all of these obviously there are multiple areas well beyond the short list of bullets
that we’re showing in these slides, but three sort of (unintelligible) for this are
in terms of health professional genomics education. How do we educate the health professional
workforce of the United States and in fact globally to be able to use genomics to the
benefits of patients? How do we inform and educate the public about
genomics in a way that they will be able to use it in terms of their own healthcare, in
terms of thinking about themselves more broadly as well? And what do we do in terms of community
engagement and that’s involving lots of different kinds of communities. How do we
engage those communities in this process? How do we engage those communities to help
us set research agenda, not just to be research participants, but to be fully engaged in the
research agenda? How do we engage various communities in terms of thinking about clinical
application and helping shape how that will occur, et cetera? In terms of the future of genome sequencing,
what will be the consequences of increased capacity and decreased cost of DNA sequencing?
Many of you all know that this is an area if we look back over the last ten years the
cost of DNA sequencing today is approximately 1/14,000th of what it was ten years ago. It’s
going to continue to get cheaper over the next few years. How does that change the way
we do things? What does it mean if we can sequence anyone’s
genome for $1000 or less as we expect to be able to do technically within a couple of
years, a few years. How does that change things? How does it change how we do research? What
does it mean we’ve often relied so far on large centers to do genome sequencing? While there’s still undoubtedly a role for
such large centers, there’s going to be a much more distributed availability of genome
sequencing when the technology to do so becomes more and more simple and cheaper, and cheaper
to buy, we’ll see medium sized centers. We’ll probably see desktop DNA sequencing
in the not too distant future. How does that change the way we do both research and clinical
care? What is the value in terms of research, in
terms of clinical care, of improving sequencing technologies? How do we figure out again for
(unintelligible) before this, is where do we invest our energies, our financial support
in terms of developing new sequencing technologies? And how we will we use this huge amount of
data to actually improve human health? One of the desired effects, but often in some
ways the side effect of this constantly improving sequencing capability is there that we’re
spewing more and more data, and it’s huge amounts of data. How do we analyze that data?
How do we store it? How do we use it to really improve human health? How do we make sense
out of it in a way that will be helpful to patients? Other potential topics and this again is a
short list of many such potential topics. What about large scale DNA sequencing and
its application, medical sequencing, comparative sequencing; that is sequencing other species
and what does that tell us about the human species by comparing DNA sequences among species. Medigenomix sequencing, that is much larger,
you know, going beyond just the DNA sequence itself. Sequence based functional genomics,
such projects that already exist such as encyclopedic DNA elements or (N codes), (mod N code) which
is a similar effort for model organisms, both of these (unintelligible), “Well gee now
that we got the DNA sequence available, how does the genome really function?” various
of other kinds of efforts that are ongoing now, some of them in a fairly small scale
that probably need to be made large scale in the near future, other kinds of efforts
in those areas. What about the whole area of population genomics,
which has been so rich in the last three years or so in terms of genome wide association
studies and what that’s told us about fundaments of human biology, the etiology of disease
in ways that we never understood before. What are the future uses of population genomics? Is there a still a place as some believe for
a large longitudinal study for instance in the US that might follow 500,000 individuals
over a period of time getting good genomic data about those people, but importantly also
good data about their environmental exposures and good phenotypic data that is really following
their health course over a long period of time to understand how this complex interplay
of genome and non-genomic factors that is environment, how they interplay with each
other to cause human health and human disease. What about the informatics and computation
of biology that’s relevant to genomics? What new biochromatic tools should we be thinking
about building? What kinds of new databases and browsers? Ways to use those to visualization
tools and other kinds of techniques. The whole area of epigenomics, the way that
the genome is modified partly by environmental exposures and other kinds of things. How do
we explore that over the next few years? There’s (unintelligible) elements (unintelligible)
not just how the genome functions but the protein that the genome produces, how do those
function? How do they relate to each other? Chemical genomics, the idea of using large
collections of small molecules to be able to both understand the way a particular gene
functions, but also very importantly in designing new drugs for diseases. The genomics of good health, of course so
often we use genomics to understand disease, but in fact genomics plays a role in good
health as well. What is to be learned for instance from finding numbers of individuals
who have known genetic mutations that put them in much great increase or much increased
risk for certain diseases, yet never develop those diseases. Why is that? Is there something
about their environment? Are there so called modifier genes? Are there other genes that
play a role in these diseases that help protect those even at an increased genetic risk in
developing the disease. There’s so much we learned about that, about
what it is that causes health, and in the end that’s what the National Institutes
of Health were not the National Institutes of Disease, were the National Institutes of
Health, that’s what everyone aspires to is not to understand the disease better, but
using that understanding to stay healthy. What about all the ethical, legal and social
implications of all of this, including direct consumer information distribution. How can
that be done the way that’s most beneficial for the public? Again getting back to public
education and the implication for clinical research of all of this. What about the application genomics to clinical
problems including rare diseases? Also thinking globally about health, diagnostics, prevention,
therapeutics, all of it. And this question of large scale population cohort studies,
not just the ones I happened to mention, but how do we use other large – that have been
around for years maybe, large scale population cohort studies. How do we go forward with
new genomics approaches to get even more out of these studies? I mentioned before the planning workshop.
There’s some workshops that have already been held sort of as part of the normal course
of activity of life around NHGRI that are going to be of great use to this planning
process, who knew, but that included a kick off meeting actually just April 2009. That
was earlier this spring where we got a number of folks from across the NHGRI, but also from
external experts to come visit us and help us think about these. And the rest of these should all say 2009
as well. This is probably the only place where the NHGRI is mired in the past; we’re a
year off on these slides. Well actually some of these were last year. I take that back.
The LC Assessment Panel, there was an assessment of the ethical, legal and social implications
of the program. This is important part of the NHGRI. And past meeting the decade of
(unintelligible) which happened some years ago, both of those will play into this process. There was a meeting last September about social
and behavioral research in genomics which is obviously very important in terms of exploring
not just the present but particularly the future uses of genomics. Also a meeting last
fall about health disparities, race and genomics. How do those things interrelate? Other ones last October we had a workshop
on standards for quality genomic data and messages and recent evidence for natural selection
in the human genome. A meeting earlier this year we called the dark matter genomic association
with complex diseases. That is the part we don’t understand. How do we explain the unexplained heritability
from genome wide association studies? So I’ve mentioned that some of you on the phone will
know the genome wide association studies have been wonderful insights into heritability.
What – how do we inherit risk for disease, et cetera? But in fact as wonderful as those
studies have been, they don’t explain most of heritability, so this workshop was to think
about what do we not understand about heritability and how should we go about trying to understand
it? A recent meeting about the future of sequencing
and there will be other discussions about that of course. That’s an important part
of all this. What is the future of genome sequencing? Upcoming workshops that are already on the
books, one that will occur this fall about the language of transcription workshop. How
is this – the transcription of the genome really done? How does this work in a scientific
way to better understand that since that is going to be such a key to understanding the
way that genomics plays a role in health and disease. The undoubtedly will be other workshops that
are suggested by comments that people give us to the four white papers and other kind
of thinking that’s going to go on around here. We are pretty clear that one thing we’ll
want to do is at the end of the planning process, sometime probably late spring or summer of
next year, will be to have a large meeting. Probably a couple of hundred people that we
would bring together as we did towards the end of the process in 2003. Some of you may have been there at (Early
House) that meeting was held to go over all of the input that’s been had at this point
and to help us digest it. It’ll include a lot of NHGRI staff, other people from around
the NIH, but it will primarily be people from outside the NIH to help us think about this
information and help us try to bring that together towards a basically a document that
can stand for all of this. And then of course there will be other regular
meetings, and NHGR has their own special workshops, but we have numerous ones of these during
the course of any year. We will be having them this year and next year. They will also
feed into the planning process. So just to underscore, currently what we’re
doing is revising the white papers – the white papers have been revised, but to seek people’s
comments, their ideas about how we can answer the questions that are posed in these revised
white papers. Those are posted online. Just go to genome.gov and the comment period ends
by June 30. We really invite both individually and institutionally comments and thoughts
about how we should move forward in terms of answering these questions. If you need more information you can email
Susan Vasquez who’s my special assistant here at NHGRI. Email, fax and phone are all
provided then – there. But you can also get to us through our web as well and contact
us if you have follow up thoughts, questions, whatever, about the whole process. So here’s a picture of us going forward
into the future led by our double helix, but you’ll notice we’ve got a compass out
trying to figure out our way. That’s a surveying tool, not a bazooka I would tell you in case
you can’t see it at your desktop. But we do need to figure our way forward and the
more people that can help guide us, the better for all of us. So I’m going to end there and see if we
don’t have questions or discussion. Turn it over to you Sarah. Sarah Harding: Thank you very much. Yes, Dr.
Guttmacher is correct. We would love to hear comments or questions from you all on the
phone. Or else if you’d like to post them online on the net portion of this webinar.
If you would like to ask a question, I believe you can dial star, 1 to get into the queue
for the question. So let’s go to the operator and see if we have some questions in our queue. Operator: Once again if you would like to
ask a question, please press star, 1. One moment for our first question. At this time
I have no audio questions. Sarah Harding: Okay. Well I have one question
that has come in to me throughout the talk a few that have come in to me. One of them
is how the smaller communities, how smaller organizations can really get engaged with
this process when they haven’t necessarily had a traditional or well established role
at the table. Allen Guttmacher: That’s a wonderful question
and something we’d really like. Part of the reason for our doing this process this
way is not just to give lip service to being inclusive but we’d like to reach out beyond
the quote/unquote usual suspects. We want to involve those who already feel that they
are part of the genomics community, particularly organizations, but the individuals as well.
We want to reach out beyond those who have traditionally been involved in this because
particularly as genomics gets more and more applicable to understanding health, to understanding
some other things about who we humans are, it gets more important to have others besides
those who have already been involved thinking about these questions. So I think there are a couple of ways to do
that. One is to feel free to offer comments, thoughts about the questions that are posed,
even if what – one doesn’t have to have a Ph.D. in molecular genetics to feel qualified
to offer opinions about this. And it can often be opinion rather than just sort of fact.
It can be stressing these are issues that are very important to us, we would, you know,
like to play a role in the future as you go forward thinking about them kind of things. It can also be pointing out to us perhaps
the issues you don’t think have been raised. Now maybe we are aware of them and just haven’t
made it clear on the web, but if, particularly folks coming in from new perspectives who
can say, “Well gee, we kind of think these issues or these questions are important, how
come you haven’t referred to them?” That would be extremely helpful for us to see what
are some of the thoughts that others have about new ways this could be applied, new
implications it could have, whether they be scientific or whether they be societal, it’s
important for us to get some new thinking to make sure that we don’t get too kind
of ossified in our thinking and looking too narrowly. Because we understand that this
has very broad application we think in biology, in health and in society. So people that can
bring in new thoughts about areas that we ought to explore are very helpful. But also again even if they’re not new thoughts,
but simply to say yes this question which is asked, we think this is a key question,
you should really be exploring this. Or this is a key question and in exploring it you
might think about these specific sort of sub-topics within it, or you might think about reaching
out to these individuals or communities or organizations in terms of further work in
this field, et cetera. So there are – we’re purposely not making
this a very prescriptive process. That is we’re not saying that your comments must
directly relate to this, that, or whatever. If they do directly relate to specific questions
that we have up there, that’s great. But if they don’t, feel free to send them into
us and to participate in this. And as you do that we’ll be both including that –
the information we send in in our thinking, but don’t be surprised if we reach back
out to you to help us think about it. Sarah Harding: Okay. We have another question
that just come in over the net, which is, “Do you have examples of successful community
engagement and education ELSI initiatives? Allen Guttmacher: There have been a number
of them over the years that have been very different in their type and scope, et cetera.
There was a community of (Cutter), trying to remember the exact name, in Michigan Project
several years ago that the University of Michigan spearheaded that was very interesting in terms
of bringing minority communities to the table in terms of thinking about genomics in terms
of research, in terms of clinical applications, et cetera. There was one in Vermont that I happened to
be involved in before I came to NIH in which the state of Vermont basically had statewide
discussion about genetics and its application. So there have been a number of ones that have
sort of broad – that have been more broadly based. There have also been some in specific
communities. Some of you may know that here at NHGR we
support more or less yearly something called the Community Genetics Forum which happens
at various sites around the country, we try to rotate it around the country in different
years, and partner with different institutions to try to create a conversation about not
just the ethical, legal and social implications of genomics, though clearly focusing on those,
but also about some of the scientific and other implications as well. So there are a
number of efforts about that. You – if you want more information about that,
there are a couple of ways to get it. One is simply to explore our website which has
examples of that. But the other thing to do would be to go to our website and look specifically
at the part of the website; I’m trying to think if I can actually give you the URL for
the Community Involvement Branch. Education and Community Involvement Branch
of the Office of the Director is really sort of our home for these kinds of projects, so
it’s also another home is within, if you go to our webpage and you look at the (eximor)
research page, you’ll find information about the ELSI program that’s the legal and social
implications program, we will have such examples. But if you also go to – if you just go to
the NHGR website and then you – probably the easiest thing to do is to simply put in the
Google search engine ECIB for Education and Community Involvement Branch. And that will
pull you up, it will something in fact about this webinar series, but it will also bring
you up to other things – information about the community and genetics forum and other
information about basic community involvement in genomics. And it will also give you the names of folks
in the Education and Community Involvement Branch — our hostess for this session, Sarah
Harding, is one of those — and contact information. So if you want more information or if you
have some thoughts, questions, whatever, you can contact those individuals for more information. Sarah Harding: So are there questions at all
over the phone? Operator: I do have a question from (Thomas
Brewster). Sir, you may ask your question. (Thomas Brewster): Allen this is (Tom Brewster)
in Portland. It’s nice to say hi. Allen Guttmacher: Hi, (Tom), it’s nice to
talk to you after all these years. (Thomas Brewster): Yes. One of the questions
basically is there involvement of these integrated health systems models like Mayo and Kaiser?
Because basically the direction of healthcare with health information systems and the patient
centered medical home involves specialist in primary care. Is there any involvement
at this level because it’s going to be critical going forward I think. Allen Guttmacher: Yeah (Tom). If I understand
your point correctly, it’s hugely important. And there’s a lot – there certainly have
been the beginnings in the last few years about exactly the kinds of places you’re
talking about, large healthcare systems really thinking about how they integrate genetics
and genomics, not just in the specialty care but into day-to-day care of patients. So that, for instance, many of you on the
phone will be aware of something called the US Surgeon General’s Family History Initiative
which really focuses on a web-based tool that people can use to collect, organize and share
with others, whether they be family members or healthcare professionals, their family
history information which we thought was a wonderful place to start because family history
is kind of the cheapest and most widely available genetic test in a way. And there are now a number of healthcare systems
that are electronically integrating, importing that into their healthcare system for instance.
There are clearly other efforts going on as well to look at ways of really bringing genetic
information into the large healthcare system. And a lot of it does focus right now on how
do you gather genetic testing information and apply that broadly. Of course eventually what one would want to
do is to have electronic systems as part of large healthcare systems that gather that
information, but also help the – basically the clinician analyze the information and
evaluate it. Whether it be family history information or genetic testing information,
it’s really going to be important. If we’re right then we’re only a few years
away from being able to sequence anyone’s genome for $1000. And we hope through things
like this planning process – maybe a little bit longer than that, but say within ten years,
so we have a fairly good understanding of what a lot of that genetic variation means
in terms of health risks, in terms of other things about one’s health, if ones whole
genome becomes part of the electronic health directory, clearly the busy clinician is not
going to be able to go through the six billion base pairs of your DNA and figure out what
all of it means. There are going to have to be systems in place
within healthcare systems that can begin to analyze that information to call to the attention
of the busy clinician which information is important, which information they can be sure
of, which they need to repeat something to make sure that it’s accurate, et cetera,
et cetera. So yeah, I think the good news is that in
recent years that’s beginning to get attention. And I think the bad news is there’s a whole
lot of work that needs to be done on both in large healthcare systems and in other settings
to figure out how we understand this huge mass of information that is going to soon
be available. And particularly how do we work with individual patients to use that information
in a way that benefits health. And one of the things that we undoubtedly
will be supporting more and more research — and by we, I mean the NIH in general,
I think. It’s how do you use genetic information to truly improve patients’ health? We –
those of us who have been medical providers as (Tom Brewster) who just asked this question
has been for some time, know very well that there’s some patients, for instance if we
talk about a mutation in BRCA 1, the gene in which we know mutations significantly increase
a woman’s risk for breast or ovarian cancer, that there’s some women if you want to make
sure that they will have yearly mammography, that they will make sure they do good monthly
self breast exam, et cetera, et cetera. The thing is, we know that it makes sense epidemiologically.
All you need to do is show that woman that she has the mutation in BRCA 1 and she will
do everything she can to optimize screening and follow up to make sure she has a good
outcome. There are other women it might be the sister
of that woman we just created in our minds, who if you want to make sure that they never
have another mammogram done again in their life, all you do is show them that they have
a mutation of BRCA 1 and you have good evidence for that. So the question is how do we figure
out, how do healthcare providers use that? How do we support the right kind of research
to figure out even if healthcare systems can build in the infrastructure for gathering
the information, et cetera, et cetera, at the end of the day it’s still going to be
the patient going over this information with their healthcare provider, probably also using
internet based tools and other kinds of things in today’s world, but involving the internet
and involving the healthcare provider, how do we do that in a way that actually influences
health behaviors in a way to create better health outcomes? That’s a huge area that
we need to support research in clearly. Sarah Harding: Any other questions in the
phone queue? Operator: I have no additional audio questions. Sarah Harding: Okay. I have one last question
that just come in over email to me which is just a very simple, practical what really
kind of impact will these comments have on this process? Allen Guttmacher: Well I can tell you we take
them seriously. We don’t – we certainly for the first phase of comment we asked people
to comment just upon the questions, you know, where the questions – how could the questions
be improved. We really did improve all of the white papers,
you know, these questions based upon that input. For this part of the process we’re
really listen to these comments because again we don’t particularly care who makes the
comment, we don’t care whether you’ve got a Ph.D. or whether you represent this
organization, whatever, we’re just after the best ideas. And we’re very happy to
steal anybody’s good idea. So that we’re going to take these very seriously.
Are we going to, you know, follow the recommended course of every single thing that’s sent
into us? No. Just as we don’t follow the recommended course of every idea that comes
up around NHGRI. But we are going to take these very seriously, we’re going to look
at them, we’re going to weigh them, we’re going to – I think – I’m sure one of the
pleasures to us is we’re going to have some aha moments where we say, “Aha! Why didn’t
we think of that?” Or, “Boy that’s another way to say this that’s much more effective
and much more useful.” Or, “This is really something that’s a good point. We need to
get some people together to think about that whether it be by email, at a conference, whatever
kind of thing.” So I can assure you that this is not just
some kind of, you know, government program to say we polled the citizenry and this is
what they said, we are really looking. I mean, basically we are looking for good ideas and
if you can send them in, we will take advantage of them, I promise. I think we’ve got one
more question. Sarah Harding: We have one more question that
just came in and that is, “How is the NHGRI thinking about studying and interacting with
direct to consumer services like 23andMe, deCODE, nanogenics, Knome and their non-profit
counterparts?” Allen Guttmacher: Sure. And many of you will
know this but this is certainly a growing presence in the genome world over the last
couple of years, direct to consumer availability of various kinds of genetic testing. Most
of it today being so called (snoop based) that is looking at the nuclei type, polymorphisms
are common variations across the genome and giving people reports about them – what that
might mean about their individual health risks. Also some of these opt for ancestry information
giving people some idea about where their ancestors might have come from geographically,
et cetera. We’ve, you know, this is a real part of the world. I think there are some
people in the genomics community who would like to act as though these resources are
going to disappear or something, but they’re a reality and they’re one that growing numbers
of the public are going to rely on. And I think it’s important as genomics moves
forward as a field that we think about how responsibly do we get information to the public
in a way that informs them, that doesn’t misinform them, but truly informs them and
allows people to make more informed decisions about their lives. Sometimes it’s not just
decisions but having more informed awareness about their lives. So I think that the research that we need
to do includes clearly health benefits within the sort of traditional historic healthcare
systems, but it would be foolish for us to act, and not in the public benefit, to act
as though there will not be direct consumer genetic information available. There already is, there undoubtedly will be
more of it. So I think part of what our planning process, and more importantly in the long
– over this period what our institute and other parts of NIH need to come to grips with
is how best does one wrestle with this. There are obviously hugely complex issues here,
some of them are ethical, legal and social implications issues, a lot of them are scientific
and straight medical issues. But those clearly is an area that we – I’m
sure we’ll be engaged in. And that I think the whole field needs to be engaged in and
trying to work together to make sure that information given the public is as responsible
and as useful as possible. Sarah Harding: And my email is heating up
with these questions, so this is great and we still have a little bit more time. This
question came about what role you feel public health will have in this (unintelligible)
process. Allen Guttmacher: That’s a very good question,
a very important one. You know, a lot of times people talk about genomics and focus upon
the individual patient and that’s hugely important because a lot of genomics, excuse
me, is about so called personalized healthcare and really understanding each of us as the
biological individual that we are. That’s a huge power of genomics. But it also is when
we apply genomics it’s often going to be in a public health kind of setting that is
thinking not just about individual health, but thinking about community health and those
kinds of things. A lot of what’s been done in public health
in the past has focused so much, as it needed to do, on environmental factors in health,
be they part of the physical environment or the social environment, et cetera. But it’s
also true that public health is made up as well of the biological environment and a real
hope for genomics is that it’s going to help us understand that biological environment
better. I’ve made reference already, but maybe not
as much as I should have to this interplay between genetics and the environment in terms
of health and disease. At the end of the day every human disease has both genetic and non-genetic,
that is as we geneticists talk about it, environmental factors at play. In public health in terms
of really understanding public health, we need to inform those discussions by understanding
both the genomic, the genetic and genomically based sort of biological health, but also
the other things in the environment in which it interplays to cause health and disease. So I think and I have great hope and reason
to believe that the public health community is making more and more use of genomics and
thinking more and more genomically in terms of trying to make public health better. For
instance, you know, one of the principal reasons why we all attend with luck to live longer
lives than our ancestors did is because of such public health measures that help screen.
However health screening the way we’ve done it has been a pretty blunt tool. For instance in – an unanswered question in
healthcare is should a woman in her 40s have an annual mammogram or not. And the reason
why that question is unanswered is not because lots of bright people haven’t tried to answer
it and haven’t done a lot of research to try to do it; it’s because it all depends
on who the woman is. There are some women because of their individual
biology, because of genetic variations that they happen to have inherited, have such an
increased for developing breast cancer perhaps at an earlier than typical age that they should
start having annual mammography in their 30s. Whereas, there are other women that it does
not make sense in a public health sense for them to start having annual mammography perhaps
until their 50s. But we haven’t been smart enough before to figure out which woman is
which. So we’ve had to come up with this sort of
average, well gee, maybe we should screen all women starting in their 40s. The hope
with genomics is A) that we will understand the biology of breast cancer in ways we never
have before and that’s more than a hope, we’ve already seen that happening, but also
we’ll understand the biology of the individual better than we ever have before, so that fairly
blunt public health tool mammography screening can be made much more precise, so that we
can apply it to the individual in ways that will be much more helpful, much more cost
effective. And here obviously we’re all talking about
cost effectiveness in healthcare. This will not just make healthcare better and more effective,
it will make it more cost effective by figuring out more specifically what kind of healthcare
makes what kind of sense whether it be individualized as sort of public health care measures, which
are better, which make more sense based upon this sort of genomic approach. Sarah Harding: Well thank you very much. We
are about at the end of our hour. So I want to thank you all for participating in this
webinar. We’ve enjoyed your questions and the discussion that ensued after this. I do
– we do welcome you to post more of your comments more formally to get engaged with
this planning process. You can see if you go, excuse me, to genome.gov
and look at the – look more specifically at the planning process, you can view the comments
that have already been posted for a variety of the white papers. Please feel free to add
to those or to contribute. Again Susan Vasquez is the wonderful contact
to send other questions. The slides are backing up. So I – we will
be holding the next webinar in a couple of months. We will – please stay tuned as we
develop that. If you do have ideas of things you would like to hear about from this institute
be it research, policy, ethical, legal, whatever implications it may be, please you can let
me know, but we’re very interested to hear about that from you. So thank you again. Please enjoy the rest
of your week. And we will see you again soon. Take care. Bye-bye. Operator: Thank you for participating in today’s
conference. You may disconnect at this time.

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