Welcome to CLIPS, the Conversations Leading to Insights on Policy and Science webinar series
by the National Institute on Minority Health and Health Disparities.
My name is Dr. Natasha Williams, the legislative liaison at the NIMHD.
Today's webinar is on the NIH Precision Medicine Initiative.
On January 20, 2015, President Obama announced in his State of the Union address
the launching of the Precision Medicine Initiative.
On January 30th, President Obama made additional remarks regarding the initiative.
Obama: I want the country that eliminated polio and mapped the human genome to lead a new era of medicine one
that delivers the right treatment at the
right time
in some patients with cystic fibrosis
this approach has reversed a disease
once thought unstoppable so tonight I'm
launching a new precision medicine
initiative to bring us closer to curing
diseases like cancer and diabetes and to
give all of us access to the
personalized information we need to keep
ourselves and our families healthier we
can do this
because something called precision
medicine in some cases people call it
personalized medicine gives us one of
the greatest opportunities for new
medical breakthroughs that we have ever
seen doctors have always recognized that
every patient is unique and doctors have
always tried to tailor their treatments
as best they can to individuals you can
match a blood transfusion to a blood
type that was an important discovery
what if matching a cancer cure to our
genetic code was just as easy just as
standard what if figuring out the right
dose of Medicine was as simple as taking
our temperature and that's the promise
of precision medicine delivering the
right treatments at the right time every
time to the right person and for a small
but growing number of patients that
future is already here
our guest speaker today is dr. Regina
Smith James who serves as the acting
associate director for clinical research
and data management in the office of the
director at ni-mh d she is also
representing ni-mh d for the nih
precision medicine initiative and
co-chair for the community engagement
health disparities nih precision
medicine initiative working group please
visit the clips website for her complete
bio dr. James's talk today is on the NIH
precision medicine initiative we will
answer your submitted questions after
her presentation thank you dr. James for
joining us today and thank you dr.
Williamson thank you for this
opportunity to share information
information about the NIH precision
medicine initiative today what I'd like
to do is first provide an overview of
the precision medicine initiative in
terms of the direction and the fact that
the president has announced this
initiative and its importance and
significance and then really go into
some of the goals of the initiative both
short and long term goals and then we'll
talk about the formation of the Advisory
Committee an important entity that
actually provides feedback to the NIH
director dr. Francis Collins around this
initiative and then we'll segue into the
various workshops that was an
opportunity to really bring in community
perspectives from academia Pharma
advocacy groups a number of constituents
to really provide some information not
only to the Advisory Committee but also
to the director about how we should
proceed with this precision medicine
initiative
so the precision medicine initiative has
a mission statement from the White House
and essentially it is to enable a new
era of Medicine through research
technology and policies that empower
patient researchers and providers to
work together toward development of
individualized treatment so this concept
of precision medicine it's not a new
concept we've been involved in
prevention and treatment strategies that
take into account individual variability
for a bit and so it's not a so for
example think about the blood typing
blood typing is used to guide blood
transfusions that takes into account
individual variability when you think
about going to the ophthalmologist your
visual acuity test that is tailored to
your individual needs so this concept of
individualized or precision medicine
approach is not novel but what I think
is new is the advances in science that
have come together that have really put
us in a position to make very large
leaps and advancements in our approach
to prevention and treatment so for
example we have more information about
the human genome sequence about
proteomics metabolomics and genomics we
are also in a better position in terms
of computational tools for analyzing
large sets of data and of course the
mobile health technology component has
been very important so aligning all of
these variables together we are now well
poised to take into account individual
differences to really dramatically
improve prevention and treatment
strategy so let's look at a case study
for example to really make this
something that we can put our heads
around let's take a 50 year old male
with diabetes who visits his doctor he
volunteers for a new national research
network samples of a DNA and health
information are sent to investigators
for analysis he agrees to track his
glucose level via a time
the implantable chip that sends wireless
signals to his watch and the researchers
computer the patient and the for the
participant can also view his health
data via a smartphone so now using all
of this information the doctor can
adjust his diet and make adjustments to
his medication so this is how utilizing
all of these new technologies and new
information in the cabin omics
proteomics all those areas of science
have really propelled us to a place that
we are now well poised to really take
into consideration individualized
tailored treatment so healthcare
providers will now be able to not only
Taylor and treatment and prevention
strategies but they will also be able to
take in unique characteristics including
genome sequence microbiome composition
health history lifestyle and diet
so what are the goals of the precision
medicine initiative out well they're a
short-term goal as well as long term
goals now the short-term goals are
really focused around cancer so for
example to identify new cancer subtypes
to test therapies to expand our
understanding of therapeutic response as
it relates to drug resistance
combination therapy and predicting and
monitoring tumor recurrence
now the longer-term goals are really
around generating knowledge knowledge to
move precision medicine into the whole
range of health and disease so
establishing the million-plus person
cohort creating new approaches for
detecting measuring analyzing a wide
variety of biomedical variables so for
example molecular genomic cellular
clinical behavioral a geologic and
environmental testing these approaches
in small pilots and then utilizing the
most promising approaches in greater
numbers of people over longer periods of
time to generate new knowledge
so there has been a number of activities
that have really provided an opportunity
for feedback into how to move forward it
initially started off with the
announcement by the president on january
twentieth and a subsequent meeting on
the 30th in which he announced the
precision medicine initiative and its
goals now in February on februari 11th
there was a meeting around how to build
this cohort how should we build a
precision medicine cohort and what I'd
like to do now is highlight some of the
suggestions or recommendations that came
from workshop participants on how we
should move forward on doing this in
building this cohort the first piece is
that participants need to be partners in
this research including children in the
cohort this could be a valuable method
to build a life span perspective on
health and disease
also building a hybrid cohort that's
incorporating some of the current
nih-funded existing cohorts and engaging
new participants thus building a hybrid
cohort the need to incorporate and plan
for short term and long term goals with
a cohort and building flexibility and
that's forming this core cohort data set
and then being able to layer tiers of
participant groups and additional
measurement on top of this base and then
rather than focus on any one disease the
cohort can provide a framework for
researchers in a wide variety of
disciplines
we should be able to also test the
ability of mobile health technologies to
both gather data from participants and
also relay information back to this that
could improve their health outcomes and
also utilizing blue button technology
the delivery of electronic health
records directly to patients this will
enable individuals to download their own
electronic health information and
provides opportunities for them to share
it with your researchers
so the first meeting building the PMI
cohort really set the stage for how to
move this initiative forward so on the
twenty-sixth of februari dr. Francis
Collins announced the formation of the
working group so on March 30th the
precision medicine initiative working
group of the advisory committee to the
NIH director was formed and these
individuals represented leaders in this
field that can provide or that could
provide NIH input feedback and direction
about how to move this agenda forward
the charge of the working group was
essentially to develop a plan for
creating and managing a large research
cohort and the report that will be
subsequently produced by this acd
working group should be delivered in
September of 2015
now the investment in the precision
medicine initiative that's proposed for
this fiscal year fiscal year 2016 is as
follows so the National Institutes of
Health should receive approximately 130
million dollars to really develop this
national research cohort of a million or
more volunteers the National Cancer
Institute is anticipated to receive
about 70 million dollars and this is
really to scale up efforts to develop
more effective approaches to cancer
treatment
the Food and Drug Administration should
receive about 10 million dollars which
we focus on supporting the regulatory
structure that's needed to advance
innovation and protect public health and
finally the office of national
coordination for health information
technology should receive about 5
million dollars to develop standards
that address privacy and enable secure
exchange of data across system again
keeping in mind all these entities of
the Department of Health and Human
Services will be working collaboratively
toward this effort but each will have
its own specific focus in moving this
agenda forward
so now that the Advisory Committee to
the director was formed in February
the next while the following steps
really involved a series of workshops
that brought experts in the field
together to discuss specific aspects of
the precision medicine initiative so the
first meeting that occurred on April
twenty-eighth focused on unique
scientific opportunities for a national
cohort
and with this workshop there was
initially a request for information that
went to the general public to really get
feedback from individuals outside who
were not going to be part of a meeting
but also to get more of a general feel
from the community about what are some
of the suggestions on reaching a you
know and taking advantage of unique
scientific opportunities for National
Coal Board so in addition to the
workshop they also said workshop
coordinators also developed and release
a request for information and receive
feedback so this request for information
actually received over a hundred I think
it was the proximate 150 responses but
they were about 58 58 unique entities
that responded in general so most of the
entities really revolved around health
care systems cohort studies or
consortium cancer registries and
individual products and there was also
representation some large healthcare
networks as well as universities so some
of the highlights of the request for
information around this NIH precision
medicine cohort includes the following
the respondents largely agreed with the
proposed size of 1 million participants
although about twenty percent indicated
that a cohort should be even larger than
that there was a strong emphasis on the
cohort reflecting population diversity
and this is with regard to many
characteristics including age ethnicity
socioeconomic status and gender
it was also suggested that certain topic
should be addressed and these included
drug and nonpharmacologic treatment
response 'as discovery of risk and
protective factors for a broad range of
diseases most commonly more of a chronic
diseases
and implementation of precision medicine
findings in clinical care
in addition respondents favorite all
long-term follow-up of at least five
years but more than five years actually
was the common response but at the very
least five years you should leverage
existing studies and infrastructure
complemented by novel recruitment it's
important to have standardized
collection of a core data set and they
also provided ideas for research
questions in study design including
allowing participants have access to
their own data if desired
so following the request for information
the workshop occurred and here are some
of the highlights from the workshop
first it was suggested that collecting a
wide variety of environmental data
including environmental sample
geographical information and socio
behavioral data was important the cohort
should also collect data across a wide
timeframe by including developmental
data and multi-generational data we
should consider incorporating mobile
health technologies in the cohort
we should also consider merging and
analyzing biological and environmental
data that may influence an individual's
health
we should engage participants at the
individual family and community level
and that would be an important way to
encourage cohort participation we should
maximize cohort diversity and this will
allow researchers to be to more easily
identify associations between biological
environmental and social behavioral
health factors and the development of
the disease and the development of
disease there's also a need to train a
workforce that is capable of analyzing
interpreting and applying research
results to the field of precision
medicine
the next meeting that followed was on
the twenty-eighth of May it focused on
digital health data in a million person
precision medicine initiative cohort
and some of the workshop highlights
included the suggestion that the PMI
should specify key research questions to
guide the effort this initiative should
also seriously consider including
children
we should ensure inclusion and this is
important and special approached
approaches and messages should be
developed to recruit and retain
underserved populations
and that an international collaboration
could actually increase the value of the
precision medicine initiative
this initiative should take advantage of
lessons learned and other projects and
again to consider a hybrid model that is
gathering core elements on participants
recruited by different mechanisms and
then identifying key subgroups for more
in-depth analysis of phenotyping and
data collection
building trust and developing policies
that facilitate data sharing at multiple
levels our two important components that
need to be considered
on july first the participant engagement
in health equity workshop was hosted
this workshop was preceded by a request
for information as well followed by the
workshop
so the request for information for the
participant engagement health equity
workshop really came down to two common
themes the first one's around community
engagement strategies and the second was
around leveraging the research to
address health disparities
of note this request for information
receives 69 responses including to
international responses
so in reference to community engagement
strategies these are some of the quotes
directly from individuals who provided
feedback into the request for
information so in reference to
engagement
the respondents noted that meaningful
involvement of community members from a
very early stage in development of ames
procedures analyses and communication of
results is important
in reference to communication the major
component of reassurance of the positive
benefits of this will be constant
communication and that includes
listening education and dialogue
involving people who are respected and
trusted by the community
transparency is important this project
must operate with the highest level of
transparency possible including frequent
project updates to key stakeholders and
in terms of partnerships we should build
not only national but local community
action boards who will partner equitably
with researchers
now around the common theme of utilizing
the research to address health
disparities there were four thematic
areas that rose to the top
the first was around multidisciplinary
studies respondents felt that this that
we should study the multiple
determinants of health and their
interactions such as personal social
economic environmental factors on
disease risk disease mechanism and
individuals individual response to
therapy
it will be critical to include careful
ballot and robust measures of social
factors across the life course including
socio-economic psycho social and
environmental conditions
we need to address what are the genetic
and environmental factors across the
lifespan that influence the development
of disparities and risk and incidents or
progression of hypertension chronic
kidney disease and other chronic
diseases and finally
what new health literacy approaches will
be necessary to ensure that patients and
families understand precision medicine
and will these vary within
subpopulations
so those are some of the salient
highlights from the request for
information what followed subsequently
was the workshop and I'd like to share a
few of those highlights with you as well
the first is around governance
governance should include participants
and participant preferences should be
given equal weight for decisions about
research priorities data sharing and
return of results
we should ensure that the cohort is
designed to understand and address
health disparities
and we need to define diversity
holistically to include race ethnicity
LGBTQI all ages people with disabilities
pre-existing conditions comorbidities
socioeconomic status education level
geography a whole host of variables
should be considered when defining
diversity in addition there should be
meaningful relationships transparency
and Trust these are essential components
in building a precision medicine
initiative cohort
people are enthusiastic about the goals
of the initiative and many people may be
more willing to share data then
researchers or institutions might expect
researchers should engage with
participants and communities to convey
the purpose of the research and how
contributed data will be used so that
participants can appreciate the value of
the research
federal and state agencies should
continue to work together to ensure that
policies that address data sharing and
data access provide robust protection
participants while enabling data sharing
the last meeting occurred on july 27 in
this meeting focused on mobile and
personal technologies and precision
medicine
three of the key points that came from
this workshop included the following we
need to be able to take experience from
smaller cohorts that employed mobile
technology and scale up for a larger
cohort we will need to develop apps that
can facilitate participant engagement
and retention the participants
and filing travel consideration must be
given to balance the following bias
versus diversity privacy versus security
ability and validity and finally data
management and integration
so I'd like to thank you for taking the
time to listen to this summary of the
NIH precision medicine initiative thanks
for the opportunity to share the
information well thank you dr. James we
have received a few questions from our
audience question number one what is the
role of ni-mh d in this initiative well
that's a wonderful question thank you
very much the ni-mh t actually is
playing a leading role in this
initiative the Institute actually came
out very early relatively speaking with
a funding opportunity announcement to
engage and provide data around precision
medicine it's called the ni-mh d
transdisciplinary collaborative centers
of funding opportunity announcements and
it's a u54 mechanism the scientific
point of contact for this funding
opportunity announcement is dr. nishad e
rajapakse key and the applications i
believe are jus September 17th and
they're really going to focus on four
priority research area data integration
population differences in pharmaceutical
therapies I believe translating
pharmacogenomic discoveries to help and
implementation research and it's my
understanding that ni-mh d intends to
fund at least three awards i think the
investment is around six million dollars
and there was a lot of interest in this
funding opportunity announcement I
understand from the program officer that
there was a pre-application technical
assistance in which there were a number
of potential grantees who were
interested so I'm sure that this will
receive a number of applications and
again ni-mh d was in the front really
putting this funding opportunity out on
the street and should really receive
some nice meritorious applications okay
our next question is what are the next
steps
well there are a number of next steps I
think the first most important next step
is really around receiving the
recommendations from the advisory
committee to the director so that we
know how to specifically proceed but
before that happened there are a number
of things that actually occurred during
the time of the workshops and I just
like to share those the first one was
the White House Champions of Change for
precision medicine this was actually of
course sponsored by the White House and
it was really an opportunity to nominate
individuals or organizations that are
leading the way in health research and
discovery so for example someone who was
a researcher who's using a data-driven
approach to improve treatments could be
nominated leaders who are empowering
people to work together to share their
data or individuals who are delivered or
developing innovative tools to analyze
data sets advocates who are working to
ensure that patients are handled in a
way that ensures privacy and security is
at most and important and patients who
benefited from precision medicine
approach so a number of these
individuals were actually nominated and
I think there were about ten who
actually were chosen to be Champions of
Change for precision medicine and they
were invited to the White House and
there was a reception and they had an
opportunity to share their various
approaches to precision medicine that
was one event that occurred there's
another event that's actually coming up
on September third again it's sponsored
by the White House in partnership with
NIH the community engagement health
equity working group of which I am a
co-chair actually solicited nominations
or recommendations or individuals who
are involved in grassroots organizations
and provided these names to the White
House so as the co-chair myself as well
as my other co-chair dr.
vaanam as well as the members of the
team really were knocking on the door
and asking many of our colleagues here
at NIH can you please provide us names
of individuals and organizations you
know at the grassroots level that could
really benefit from hearing information
about the position of medicine
initiative and so we provided that
information to the White House and so
again on September third they will be
inviting and hosting a group of folks in
Washington DC to really share this
information to send me this information
at the grassroots level and then from I
think an NIH standpoint again I
mentioned earlier we're all waiting for
the recommendations to be released and
once those recommendations are released
there will be a number of meetings to
develop nih-wide funding opportunities
so we're planning to have a planning
meeting this week which is around
September fourth and then we'll have a
what we're calling and all day retreat
or writing sessions in which we will be
writing and developing the funding
opportunities around this initiative so
those are some of the up and coming
events around this very important
initiative well dr. James I want to
thank you for joining us today and for
your presentation we will also like to
thank the clips production team mr.
Edgar do's and mr. Aaron freedom and for
those who joined us on the webinar we
look forward to you joining us for
future clips webinars thank you thank
you for the invitation
you
