Laura Rodriguez: Actually, I'm going to pick up pretty close
to where Jim left off, in talking about policy, and many of the things I am going to raise,
which I promise to do quickly, because I know we're all anxious to stand up and stretch
our legs, and to get to some more discussion, maybe, back and forth with all the panelists,
is I'll be talking about things that many of the different speakers have mentioned in
the course of their individual stories, and what I'm going to try to do is to come back
and look at it, and put it into some context from a purely policy perspective, and pull
the different pieces of the landscape that we've heard about together.
And so I do think about policy most of the time.
I think about the science as part of the policy, and, of course, the science is the origin
for all of the policy questions that we think about, and I like to imagine that we would
have, in an ideal world, a nice iterative dialogue that could take place between the
research that was being done, the knowledge that we were learning through that research,
and the policies that we were putting back into the field to guide the research and to
oversee the research.
And, of course, the policy and the research would all be within a framework of agreed-upon
consensus, ethical norms that everyone in society could fall behind, and everything
would be lovely.
Of course, that's not the world that we live in, and particularly in our area of science,
where it's -- technology is moving very quickly, and our different ideas about how to use this
technology, and all of the different applications that are possible within medicine, within
research, but also outside of those two domains, means that we're really needing to be iterative,
yes, but that we will have to deal with some uncertainty as we go forward, and be thoughtful
as we can be, and always be adaptive to what we're doing.
So, again, as I said, I'm going to pick up where we dropped off with Jim talking about
genomic medicine.
We've heard from others, too, about how, really, genomics, as it moves into medicine, but in
general, it's becoming increasingly relevant to the public.
From a research perspective, what we're doing now, as we get very excited about learning
more about the common diseases, trying to tease apart the weaker genomic effects that
contribute to disease, we're needing to study lots and lots of people, and others have mentioned
this.
We were excited a few years ago when we were talking about thousands; now we're talking
about tens of thousands and even more.
And really, what we want to do is bring this into the clinic and put it in the doctor's
hands.
And again, Rick mentioned earlier, but it's not just a laptop anymore, but he wants it
on an iPhone so it can be as maximally flexible as possible.
And this is all looking at it just from a perspective of the research community and
our structured environment where research is a domain that we control, and we move forward
in through methods and processes that we understand.
But, of course, as genomic technology has moved out and become accessible, the public
has gotten excited about it; it's really cool stuff.
And there are companies out there, in response to public demand, that are putting the technology
into the consumer' hands.
And so the birth of the direct-to-consumer companies have made it possible in a very
exciting way, I think, for individuals to ask questions about their own genome if they
want to.
There's a lot of debate over how that should happen, over when it should happen, over what
value it actually means, and how do we control the information or influence the information
that they're given, but really, they're also not just doing it for health reasons.
They're also doing it for ancestry reasons, to learn more about their families and where
they come from, and just because they might have a value, or put a value on something
that's useful to them, and that's not something that we can mandate or that we can control,
or that, really, we can even decide in advance what it will be and make decisions about what's
appropriate or not.
In addition to just their interest in the technology and knowledge about their own genomes,
they're also increasingly eager to see research and to move research forward, and this is
healthy people as well as sick people.
And so they're really starting to push for this.
There are groups like Patients Like Me, Private Access, where they're building platforms to
shape the research agenda, to make it possible to control the choices about who their data
are used, to invite researchers in to use their data, and to really think about the
policy questions in terms of privacy and confidentiality that are important to them, and to be able
to have the ability to make their own choices of how that happens.
Sage Bionetworks is another group, and 23 and Me, one of the direct-to-consumer companies,
also has a very strong research aim, and is building a strong research database with their
clients, those that are willing and interested to go forward.
And this is something that, as a research community, will be very powerful for us, but
we will need to adjust to the different dynamics through which this process moves.
And so then we come back to the big question about genomic medicine, and are we there yet?
We've heard a lot about the potential today, a lot about the remaining policy questions,
are we ready for this.
There's been a lot of debate over the last few years with DTC companies as well as others,
and I would think that, in general, no, we're not, but we're also not here anymore, where
there's a big gap.
We have had successes that have taken place, where we've crossed the bridge from research
and been able to make a difference in an individual's life, or in a family's life, based on genomic
information.
And what we really are about trying to do right now is move from these individual success
stories and the anecdotes to common practice, where we have the infrastructure, and the
policies, and the framework from which to make this common practice, and make it available
to a broad swath of our society and use it every day.
And again, that's part of why we're so excited to be here at the Smithsonian to engage the
public on these questions, and to have them begin to think about this from an informed
perspective, so that when it comes their time to interact with the clinical side of genomics,
that they are able to do so in a productive and constructive way.
So, I'm just going to try to talk about a few of the policy issues, again, pulling together
things that I've heard others say today, that I think span both research and clinical issues.
I won't be able to touch on all of them, obviously.
One of the things that I think is very important, and that we are dealing with in various ways,
is the autonomy of choice for our research participants and for our patients as we continue
to move into the clinical sphere.
And that can be through how their research data are used, when they're used, as well
as, again, the risks that they're willing to take, for instance, around privacy.
Perhaps they want to share their data.
Again, like, Patients Like Me and others that go to those services, they don't want to be
told that there's too much risk, and they shouldn't do this.
This then involves looking at our oversight and regulatory structures.
Again, others have mentioned this from the perspective of things such as coverage and
reimbursement, but it also has to do with how we oversee the research that we're doing.
But -- and, again, of course, the testing that would go out into play for different
things, genetic tests, direct-to-consumer tests, et cetera.
And then access issues is something I think is very important.
If we want genomic medicine to truly be successful, we want to make sure that it is rolled out
in a way that is equitable across society, and that is not held up for other legal reasons,
or either issues that may come to play.
Some of that has to do with gene patents, which we've heard about a lot today, which
is great.
Others has to do with genetic testing and coverage and reimbursement, which other speakers
have mentioned, as they're thinking about the technologies and moving it forward.
And then, again, something we've also heard a lot is healthcare readiness.
And this is from the perspective of physicians and healthcare teams.
Also, in terms of infrastructure, the hospitals, the electronic medical records, and, of course,
from the patient perspective.
Getting ready to be able to integrate the information and to apply it in a way that
is broad-based, and affordable, and successful.
So if we look, first, at the autonomy, briefly, and we think about how the public has been
hearing about this over the past few years.
We've had stories in the news -- the stories that tend to make the news are not always
the positive ones, at least the ones that stick with us -- about things such as Indian
tribes who are unhappy about how their DNA has been used for research.
The Henrietta Lacks story that Rebecca Skloot told so effectively a few years ago in terms
of how the HeLa cells are generated.
And then, of course, a series of lawsuits brought in different states for how newborn
spots from -- screening -- newborn screening spots had been used, and the choices that
were made by states for what was appropriate in terms of research access, et cetera, without
asking for individual patients' consent for what was happening.
Just this past January, we did move, with regard to privacy, from the land of the theoretical
to the real in terms of being able to identify de-identified or anonymous participants by
name, strictly from their genomic information, by combining not just the genomic information
from a research space, but also putting it together with all of the other digital information
out there about all of us on the Internet.
And then, again, most recently, HeLa has made the news again with the publishing of the
whole genome analysis of one particular HeLa cell line, and the questions that are raised
for the descendants of Henrietta Lacks in terms of, again, their choices about what
was done, as well as the privacy that might be attendant to that.
And then I want to raise one other issue that's not a research question, and I apologize for
missing this layering aspect, but last week's Supreme Court decision that made a lot of
news around the Maryland case where it was agreed from the court in a split decision
that it was acceptable to accept -- or to collect DNA at the time of arrest.
I remember that evening, I happened to be home watching the news, and I was horrified,
just from a perspective of the themes and questions that would be raised for me in the
job, about what this meant for the public, because the news stories were putting this
in a context which linked collecting DNA and using DNA information with an inability to
have any privacy, and what a frightening world this now meant because this was going to be
happening.
And if the government could not keep safe their confidential secrets, how could they
possibly protect your DNA information.
And again, coming from a research space, where we do have many important government community
resources, this is a very frightening prospect in terms of the PR and the damage control
to explain the processes that we have in place.
And so it's very important, I think, to think about the public perspective and how they're
hearing it to make sure that we give them back the information that's important to explain
what really happens.
One discussion that has gone on in response to the identifiability story that came out
in January was, again, to try to begin to put this into context.
And so Eric Green and our colleagues published a brief commentary to try to note that the
advance that had been made with regard to identifying specific individuals through their
research data combined with other information on the internet was not just about genomic
data.
The questions that it raised was not just about genomic research data, but about all
of the data that we're collecting.
And the tension that it exposed really was about the competing -- or not competing, but
the dual values that we have in our society to respect participants, to respect privacy,
to promote confidentiality, but also, the value to advance health research and to move
science forward.
And what we said in that commentary was to push for new conversations to look at all
of the available options that we have today, in today's society, with all of the opportunities
that technology provides, as well as the limitations that it may expose to us, to begin to look
for new solutions.
And I was very excited last week to see -- this did not have anything to do with our paper
-- but that the global alliance was announced where just that happened, where the community
came together, stakeholders from all different sectors of the research community and the
public, to begin to make a promise to one another to think about how to move forward
and share data in a way that respected participant interest, allowed them control over choices
with regard to privacy and how their data were used.
And I think this will be very exciting as we go forward to watch how this develops and
what models come out of this alliance.
Other things that are coming up in the future which I think will be of interest to you all
in terms of this ongoing conversation.
NIH has had a genomic data-sharing in place for five years for genome-wide association
study data.
We are hoping to release, in the next month or so, a new updated policy that will expand
the data-sharing expectations and the policy model to all different genomic types, and
this will also, again, be an opportunity to look at how we are regarding participant autonomy
in terms of consent choices for use of data, as well as privacy models.
Also, the common rule, the federal oversight rule that is in place to guide all human subjects
research is being revamped.
There was a notice nearly two years ago, but the recent headlines about the Henrietta Lacks
story in terms of the publication of the genome has given new energy to those debates within
the government, and so we are, again, looking at how we might be able to move this common
rule forward where, again, there were proposals made about updating our mechanisms for acknowledging
participant choice and for protecting, with regard to today's world and today's risks,
the genetic information and genomic information in the data that we will be sharing.
The Myriad story, we have already heard about; this speaks to access, and again, people mentioned
this morning whether or not gene patents would hold up both research or access to clinical
testing.
And the decision came out this morning, and I don't want to say anything other than that
a few -- 20 minutes ago or so, Larry Brody was showing me a new slide that a competitor
of Myriad already has on their home page, a great graphic with the glowing Supreme Court
saying, "Your genes have been freed."
And they're offering BRCA1 testing now, coming forward.
So just within the last few hours since this decision has happened, it's already moving
very quickly.
The Angelina Jolie story has also come up, another very powerful aspect and variable
within the public conversation through one well-known person sharing their personal story
about the family history.
And the choices that she made with regard to her genetic background was really illuminating,
not just as an education moment for many in the public, but also as an opportunity to
talk about the choices and the ability to make a choice.
But another point that I think is really important, and one which we haven't had a chance to really
deal well with yet because of where we are in the process of moving towards genomic medicine,
is the aspect of coverage and reimbursement for genomic testing.
And she raises, in her story, which I think was very important and will make a great contribution,
the fact that she was able to make a choice, and she was able to have the testing despite
the cost, she was able to choose to have surgery, and not everyone has those choice, and that's
going to be important for genomic medicine to really go forward, for us to find ways
to make sure that we all have choices about whatever the genetic disease may be, to choose
or not to choose how to go forward and how to affect our healthcare choices.
In terms, lastly, of readiness for the healthcare system, again, we've heard already about the
need for physicians to be educated; we've published on this before.
Not just the physicians, but the entire healthcare team.
But it's starting as genomics moves into the clinic for the rubber to hit the road, and
we're seeing rather frightening quotes from physicians who are struggling to deal with
this new information, with the push from their patients for this new information, to really
understand what to do with it, and to make sure that they're providing the best care.
And so it's really becoming increasingly urgent that we find ways to deal with this.
This is not the most exciting policy issue, it's not one you think about from an ethical
standpoint, but it is fundamental to going forward.
We've been building resources for this, again, not very exciting, but we're very happy to
say that within the next few months, we'll have new resources coming out for pharmacists,
a critical component of the healthcare team.
We are now beginning to talk to physicians.
We're in the very early stages, and hoping that they also will begin to come together
as a community and put together resources from an education standpoint, competencies
for training, to begin to ready themselves for this technology moving into the clinic.
And then, finally, a final piece is as the specialists begin to try and introduce standards
for clinical care.
This also has been something in the news of late.
Six weeks ago or so, the American College for Medical Genetics and Genomics put forward
the first clinical guidelines for whole genome sequencing and the return of incidental findings,
which Jim mentioned the concept of incidental findings and how complicated it can be for
individuals to decide what to do.
Since that first release of the paper in just the six weeks, there have been at least four
papers that I know of, I know there are many others in the works coming out with different
opinions, different expertise and experts speaking about how this position is wrong,
how it's right, how it should be different to go forward, and, obviously, it's just highlighting
the massive amount of work to be done in this space for us to get where we're trying to
go, which brings us back to the question of, "Are we there yet?"
And how do we get there, really.
And so, in summary, what we'd like to avoid is massive fear.
We don't want the public not to engage, we don't want physicians not to engage; we want
everyone to see the genomics for the potential that it offers.
We also don't want them to be so confused they don't know which direction to go.
And, in the end, what we're striving to do is to find a balance between moving the research
forward and respecting the individuals that will help us to move it forward as research
participants and as patients in the end.
And I will stop there.
[applause]
Larry Thompson: Thank you very much, Laura.
So we're at the end of our talks for today.
I don't know if -- does anybody has any burning questions for any of our speakers, Laura,
or anyone preceding her?
Eric, or -- do you have any thoughts that you would like to close this with?
Nope?
All right.
Well, then, I'd like to like everyone for participating, for the web audience, everybody
have a good day, and thank you very much.