[Senate Hearing 114-606]
[From the U.S. Government Publishing Office]
S. Hrg. 114-606
CONTINUING AMERICA'S LEADERSHIP: REALIZING THE PROMISE OF PRECISION
MEDICINE FOR PATIENTS
=======================================================================
HEARING
OF THE
COMMITTEE ON HEALTH, EDUCATION,
LABOR, AND PENSIONS
UNITED STATES SENATE
ONE HUNDRED FOURTEENTH CONGRESS
FIRST SESSION
ON
EXAMINING PRECISION MEDICINE FOR PATIENTS
__________
MAY 5, 2015
__________
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Pensions
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COMMITTEE ON HEALTH, EDUCATION, LABOR, AND PENSIONS
LAMAR ALEXANDER, Tennessee, Chairman
MICHAEL B. ENZI, Wyoming PATTY MURRAY, Washington
RICHARD BURR, North Carolina BARBARA A. MIKULSKI, Maryland
JOHNNY ISAKSON, Georgia BERNARD SANDERS (I), Vermont
RAND PAUL, Kentucky ROBERT P. CASEY, JR., Pennsylvania
SUSAN COLLINS, Maine AL FRANKEN, Minnesota
LISA MURKOWSKI, Alaska MICHAEL F. BENNET, Colorado
MARK KIRK, Illinois SHELDON WHITEHOUSE, Rhode Island
TIM SCOTT, South Carolina TAMMY BALDWIN, Wisconsin
ORRIN G. HATCH, Utah CHRISTOPHER S. MURPHY, Connecticut
PAT ROBERTS, Kansas ELIZABETH WARREN, Massachusetts
BILL CASSIDY, M.D., Louisiana
David P. Cleary, Republican Staff Director
Evan Schatz, Minority Staff Director
John Righter, Minority Deputy Staff Director
C O N T E N T S
__________
STATEMENTS
TUESDAY, MAY 5, 2015
Page
Committee Members
Alexander, Hon. Lamar, Chairman, Committee on Health, Education,
Labor, and Pensions, opening statement......................... 1
Murray, Hon. Patty, a U.S. Senator from the State of Washington.. 3
Hatch, Hon. Orrin G., a U.S. Senator from the State of Utah...... 22
Franken, Hon. Al, a U.S. Senator from the State of Minnesota..... 23
Cassidy, Hon. Bill, a U.S. Senator from the State of Louisiana... 25
Bennet, Hon. Michael F., a U.S. Senator from the State of
Colorado....................................................... 27
Collins, Hon. Susan M., a U.S. Senator from the State of Maine... 29
Warren, Hon. Elizabeth, a U.S. Senator from the State of
Massachusetts.................................................. 30
Whitehouse, Hon. Sheldon, a U.S. Senator from the State of Rhode
Island......................................................... 32
Baldwin, Hon. Tammy, a U.S. Senator from the State of Wisconsin.. 34
Witnesses
Collins, Francis S., M.D., Ph.D., Director, National Institutes
of Health, Bethesda, MD........................................ 6
Prepared statement........................................... 8
DeSalvo, Karen B., M.D., MPH, MSc, National Coordinator for
Health Information Technology, Washington, DC.................. 10
Prepared statement........................................... 12
Shuren, Jeffrey, M.D., J.D., Director, Center for Devices and
Radiological Health, Food and Drug Administration, Silver
Spring, MD..................................................... 13
Prepared statement........................................... 15
ADDITIONAL MATERIAL
Statements, articles, publications, letters, etc.:
Senator Klobuchar............................................ 40
(iii)
CONTINUING AMERICA'S LEADERSHIP: REALIZING THE PROMISE OF PRECISION
MEDICINE FOR PATIENTS
----------
TUESDAY, MAY 5, 2015
U.S. Senate,
Committee on Health, Education, Labor, and Pensions,
Washington, DC.
The committee met, pursuant to notice, at 2:41 p.m., in
room SD-430, Dirksen Senate Office Building, Hon. Lamar
Alexander, chairman of the committee, presiding.
Present: Senators Alexander, Collins, Hatch, Cassidy,
Murray, Casey, Franken, Bennet, Whitehouse, Baldwin, Murphy,
and Warren.
Opening Statement of Senator Alexander
The Chairman. The Senate Committee on Health, Education,
Labor, and Pensions will please come to order.
This morning, we're holding a hearing on Continuing
America's Leadership: Realizing the Promise of Precision
Medicine for Patients. Senator Murray and I will each have an
opening statement. Then we'll introduce our panel of witnesses,
who are getting to be very familiar to us.
We're very grateful to you for coming.
After that, we'll have time to ask 5-minute rounds of
questions or two, depending on how many Senators are here.
We're here today to discuss an exciting new direction in
our healthcare called precision medicine. What does that mean?
Well, if those of us in this room were a good
representation of the U.S. population, the Centers for Disease
Control and Prevention estimates that nearly 1 in 10 of us
would have diabetes. If doctors could use precision medicine--
that is, if they could look at our individual DNA and the
genetic and molecular makeup of our disease--perhaps they could
then potentially tailor treatments to each individual, rather
than to the more general category of diabetes.
I was visited this morning by the head of Philadelphia
Children's Hospital, who talked about their work in identifying
a genetic defect that causes blindness and how they have
developed a therapy that restores the sight in a child because
the therapy is directed for that specific genetic defect.
This is happening with cancer treatment. Doctors can look
at the mutations of the cancer cell and assess how to treat it.
Newsweek reports that genetic sequencing of tumors is already
starting to become the norm. In the big cancer hospitals like
Sloan-Kettering, Dana-Farber, and MD Anderson, all incoming
patients automatically have their tumors sequenced.
This is all possible because of the extraordinary
achievement by a great many individuals of sequencing the human
genome, none more important than Dr. Collins, who is here with
us today, and we are grateful for that.
Today, we want to discuss what the National Institutes of
Health and private industry are doing in precision medicine,
how the Food and Drug Administration will regulate these
innovations, how electronic health records can affect our
ability to innovate, and what this means for the American
patient and for our health care system. This is one of the most
exciting new frontiers in medicine.
Senator Murray and I are working on an initiative to ensure
that our Federal agencies are equipped to review the medical
products and processes produced by this kind of cutting edge
medicine, so that American patients aren't waiting on the
sidelines because regulatory science can't keep up. Our
innovation initiative is not just about precision medicine, but
precision medicine is an important part of our initiative.
President Obama announced a Precision Medicine Initiative
in the State of the Union this year. He detailed his plans in
an event at the White House. I attended that to demonstrate my
support for it.
The President has proposed, as part of his plan, mapping
the genomes of 1 million individuals and making that
information available to medical researchers across the
country. I look forward to hearing more about that from our
witnesses.
I also know there are similar private efforts underway and
I am interested in hearing about that competition and about
possible collaboration. For example, the Children's Hospital of
Philadelphia that I mentioned also has genome sequences of
children at their hospital, and I wonder how useful that would
be to the 1 million that Dr. Collins is putting together and
how these scientific entrepreneurs, Dr. Venter in California,
the doctors at CHOP in Philadelphia, and other places--how that
relates to the President's proposal for 1 million individuals.
I look forward to hearing more about the potential cost of
precision medicine. We know that costs to sequence the human
genome have been reduced significantly in the last two decades.
Dr. Collins testified--I believe that he said 15 years ago, it
cost us about $400 million to sequence the first human genome,
whereas today it's about $1,000.
Very often in health care, innovation initially increases
our costs. That doesn't mean we shouldn't innovate. Innovative
new products can increase costs, but in the long term actually
decrease health care costs.
Take Alzheimer's, which, according to the Alzheimer's
Association, will cost us $226 billion this year along with
other dementias. If we could use precision medicine to delay
onset or cure that disease, we could save precious dollars in
our healthcare system and alleviate some of the grief and pain
associated with it.
The committee has also spent some time and will spend more
on improving electronic health records. The Federal Government
has spent $28 billion to drive the adoption of these records
systems, and the result is that doctors don't like the systems.
Many say they disrupt workflow, they interrupt the doctor-
patient relationship, and that haven't been worth the effort.
Senator Murray and I have begun a working group to identify
the five or six things we can do to help make the failed
promise of electronic health records something that physicians
and providers look forward to instead of something they endure.
Dr. DeSalvo, we look forward to working with you on that
and with Secretary Burwell and being able to report maybe early
next year some results, either that you take administratively
or that we do legislatively or some of both. We have to get to
a place where the systems can talk to one another--
interoperability--and where doctors, particularly the smaller
physicians' offices, want to adopt these systems, can afford
the cost, and can be confident that their investment will be of
value.
Dr. Collins has told us--and I've heard from many others--
that a properly functioning electronic medical records system
is tremendously important to the President's Precision Medicine
Initiative. No. 1, it can help to assemble the genomes of the 1
million individuals; and, second, if we want to make genetic
information useful it's going to take computers that operate
easily and with the click of a mouse to help make it possible
for doctors to actually prescribe prescriptions for individual
patients.
I also would like to hear if we know, Dr. DeSalvo, at some
point, how the $11 billion effort by the Defense Department on
electronic medical records would relate to the $28 billion
we've already spent and whether those will be compatible and
whether you'll be working with them.
There's a lot to talk about today. This is a tremendously
interesting and important effort, and I look forward to the
witnesses' comments.
Senator Murray.
Statement of Senator Murray
Senator Murray. Well, thank you very much, Mr. Chairman.
Thank you to all of our witnesses for being here today.
Each of your agencies plays a critical role in the topic we're
going to be talking about, and I'm grateful to have you all
here to share your expertise.
I've approached our bipartisan effort to advance medical
innovation focused on one question in particular, and that is:
What can Congress do to help all patients and families get the
safest, most effective treatments and cures more quickly? Our
conversation today is about the promise of precision medicine,
and it is a crucial and truly exciting piece of the puzzle.
There's no question we are at a critical moment in the
medical field. Researchers and medical experts are increasingly
finding ways to treat patients not just as the average patient
but, instead, based on their own unique characteristics and
history.
This is like the difference between getting eyeglasses
based on the average prescription and getting eyeglasses based
on your own prescription. It's huge, especially for patients
and families across the country who are waiting and hoping for
better treatments and cures.
I'm proud that my home State of Washington is home to
several institutions that have been pioneers in this area.
These include the Fred Hutchinson Cancer Research Center and
the University of Washington, which are using precision
medicine technology to tackle breast cancer, eye disease, and
Alzheimer's disease, among others.
I'm glad we have the opportunity today to discuss the ways
in which precision medicine is changing and improving lives and
how Congress can help advance this new frontier in biomedical
innovation for patients and families.
The President has proposed making significant investments
in precision medicine. His fiscal year 2016 budget supports a
bold new initiative to exploit the recent advances in genomics,
molecular biology, and data management to support the shift
away from this one-size-fits-all medicine and toward treatment
tailored to specific individuals. This proposal could do an
enormous amount to accelerate the advancement of precision
medicine. But as I discussed with Dr. Collins in our
appropriations hearing last week, I am deeply troubled by the
steady erosion of NIH's purchasing power over the last decade.
Last Congress, Democrats and Republicans were able to come
together to replace harmful sequestration cuts to investments
in NIH, FDA, and other critical priorities, like education,
infrastructure, and defense. I am really hopeful that this
year, despite the budget proposals put forward by my Republican
colleagues, we will be able to work across the aisle and find a
way to prevent these shortsighted cuts from kicking in again.
This is absolutely critical to the kinds of investments we
need to make to help families and grow our economy, including
precision medicine. One of my top priorities on this committee
is looking for ways to continue improving the quality of care
patients receive, and supporting precision medicine is
essential to this goal.
By offering patients and providers more and much better
health information, patients, in consultation with their
doctors, will be empowered to make informed decisions about
their care. Our health care system will be better equipped to
put their needs first.
I do want to note that protecting privacy will be an
important challenge throughout this process. Just in the last
few months we have seen serious security breaches impacting
families' personal health information, and that is
unacceptable.
As researchers, providers, and patients gather and use more
health information, we need to be aware that data is being
created that cyber criminals will want to exploit, and that
means we will need to develop strategies to protect privacy
that meet today's challenges. Chairman Alexander and I are
investigating the current state of cyber security in the health
sector, and it is clear that this needs to be an all-hands-on-
deck effort with providers, insurers, and government working
together.
Again, thank you to all our witnesses for being here today.
I want to thank Chairman Alexander for holding this hearing on
a topic of such importance for patients and families in
Washington State and across the country.
I look forward to working together, Mr. Chairman, with you
and other members of the committee to support this important
initiative.
The Chairman. Thank you, Senator Murray.
To underscore what Senator Murray said, this specific topic
is an initiative of the President in which the committee, in a
bipartisan way, is very interested. We expect to get a result,
and we welcome the expert advice.
We have three witnesses, and I'll ask Senator Cassidy if
he'd like to introduce the first one.
Senator Cassidy. Yes, Dr. Karen DeSalvo. Dr. DeSalvo and I
know each other from way back when I was full-time with LSU and
she with Tulane, and I told her that just in her honor, we made
the spread Tulane green today.
Dr. DeSalvo is the National Coordinator for Health
Information Technology at the Office of the National
Coordinator of Health Information Technology, or ONC. ONC is
the lead agency charged with formulating the Federal
Government's health IT strategy and coordinating Federal health
IT policy, standards, programs, and investment.
I've been impressed. Dr. DeSalvo has come to me personally.
There's a friend back home who is having a lot of problems with
her electronic medical record and adapting to it. She called
her, and they spoke at length. She clearly recognizes
interoperability as key. She is working with and listening to
physicians and developers of these products.
Before joining HHS, Dr. DeSalvo was the Health Commissioner
for the city of New Orleans, including and after Hurricane
Katrina.
The Chairman. Thank you, Senator Cassidy.
Dr. DeSalvo, we look forward to your testimony. We expect
to get to know you pretty well here, because all of us are
interested in fixing the electronic medical record system, and
you're on point for that, according to Secretary Burwell. We
look forward to that.
Our other two witnesses are here about every other day, it
seems, and we're grateful for that. Dr. Collins, the Director
of the National Institutes of Health, who oversees the work of
the largest supporter of biomedical research in the world, has
been the Director since 2009. Of course, he is known, among
other things, for his leadership of the International Human
Genome Project, completely sequencing the human genome in 2003.
Dr. Jeff Shuren was here just last week. He has been the
Director of the Center for Devices and Radiological Health at
the Food and Drug Administration for more than 5 years. They're
responsible for assuring the safety, effectiveness, and quality
of medical devices; assuring the safety of radiation-emitting
products; and fostering device innovation.
He's had a lot of experience, and 1 year of that experience
was being detailed to this committee as a part of Senator
Kennedy's staff. So we welcome him back.
If the witnesses would summarize their remarks in about 5
minutes, we would appreciate it. We have Senators here who want
to have a conversation with you. Let's start with Dr. Collins.
STATEMENT OF FRANCIS S. COLLINS, M.D., Ph.D., DIRECTOR,
NATIONAL INSTITUTES OF HEALTH, BETHESDA, MD
Dr. Collins. Well, good afternoon, Chairman Alexander,
Ranking Member Murray, and distinguished committee members.
It's an honor to appear before you today to discuss how we can
advance America's health by accelerating progress toward a new
era of precision medicine.
Earlier this year, the administration unveiled the
Precision Medicine Initiative, a bold new research effort to
revolutionize how we diagnose and treat disease. We believe the
time is right for this ambitious initiative, and the NIH and
our partners, the FDA and ONC, will work hard to achieve this
vision.
Historically, physicians have had to make most
recommendations about disease prevention and treatment based on
the expected response of the average patient. This one-size-
fits-all approach works for some patients and some conditions
but not others.
Precision medicine is an innovative approach that takes
into account individual differences in patients' genes,
environments, and lifestyles. The concept is not entirely new.
Blood typing, for example, has been used to guide blood
transfusions for almost a century.
The identification of the BRCA1 and BRCA2 genes has made it
possible to provide options for women at high risk of breast or
ovarian cancer. The gene implicated in cystic fibrosis,
discovered in my own laboratory 25 years ago, has led to
widespread availability of carrier screening and targeted
therapeutics.
The prospect of applying this concept broadly has been
dramatically improved by the development of powerful and
affordable methods for characterizing personal biological
information. That includes genomics, the widespread adoption of
electronic health records, the recent revolution in mobile
health technologies, and the emergence of computational tools
for analyzing large biomedical datasets. Furthermore, patients
are increasingly interested in taking part in research.
All of these developments will help make possible the dream
of personalizing a wide range of health applications. With this
in mind, we are thrilled to take a lead role in the multiagency
Precision Medicine Initiative.
In the near term, this initiative will focus on cancer,
accelerating efforts to develop precision medicine strategies
for a wide range of adult and pediatric cancers. This component
will include the molecular analysis of large numbers of
individual tumors to see what gene mutations are actually
driving the malignancy, and then matching that information with
available targeted therapeutics provided by pharmaceutical
industry partners to optimize responses for the individual.
Simple blood tests will be developed that can detect early
response or resistance to drug therapy. Combinations of
targeted drugs will be tested to see how best to achieve not
just a remission, but a cure.
To put a human face on this, I'd like to paint you a
forward-looking picture of what the Precision Medicine
Initiative could deliver for cancer in a few years. Consider
the hypothetical case of Lily, a 52-year-old woman of Asian
descent. In 2018--this is a hypothetical case--after battling
bronchitis and a persistent cough for several months, Lily goes
to her doctor, who orders a lung CT scan, along with a new
blood test developed through research supported by the
Precision Medicine Initiative, to look for DNA and other
biomarkers circulating in her blood.
The CT scan, as you can see from the arrow there, detects a
tiny spot that could be either inflammation from bronchitis or
cancer--not clear. The biomarker test clinches the diagnosis,
revealing a genetic mutation that occurs only in patients with
cancer.
In 2015, today, her prognosis from this cancer would likely
be pretty grim. In 2018, that could all change. Lily is treated
with surgery to remove the tumor, and the tumor DNA then
undergoes additional molecular analysis.
Based on those results, Lily is treated with a targeted
drug that was originally developed for skin cancer but has just
the right properties for her tumor. She also receives a course
of immunotherapy specifically designed to kill any tumor cells
that may still be lurking in her body. With this treatment, a
decade later, Lily remains cancer free. That is a hypothetical
but quite realistic example of what the cancer component of
this initiative could achieve.
As a longer term goal of this initiative, NIH will launch a
National Research Cohort of 1 million or more volunteers who
will play an active role in how their medical, genetic, and
environmental information is used to prevent and manage a broad
array of diseases. Participants, some recruited from existing
NIH-supported cohorts and some new volunteers, will be
centrally involved in the design and implementation of this
process. They will be true partners.
With appropriate privacy protections, they will be able to
share genomic data, lifestyle information, and biological
samples, all linked to their electronic health records.
Participants will be able to have access to their own health-
related information.
New approaches for detecting and analyzing a wide array of
biomedical variables will be initially tested in small pilot
studies focused both on prevention and management of disease.
Ultimately, the most promising approaches will be utilized in
greater numbers of people over longer periods of time to
collect valuable data that will be of great benefit to both
researchers and patient partners.
Let me quickly give you an example of how this could
benefit a specific participant in the Precision Medicine
Initiative but could also provide evidence for a new strategy
for health maintenance that could be extended across the
Nation.
Consider the case of 38-year-old Precision Medicine
Initiative participant Carla. It's 2020. Carla feels perfectly
healthy. She welcomes the chance to try out a wearable sensor
that continuously monitors her pulse, blood pressure, physical
activity, and sleep patterns, but discovers that her blood
pressure usually runs about 150 over 100, too high, increasing
her risk of stroke, heart attack, kidney failure, and other
life-threatening conditions.
Carla is not alone, by the way. Nationwide, about 78
million Americans, one out of three adults, have high blood
pressure. Many, like Carla, don't even know it. What's worse,
nearly 50 percent of those diagnosed with hypertension do not
have it under control.
Carla consults with her doctor who confirms the need for
treatment and suggests she take an inexpensive diuretic drug.
Carla obtains a smart bottle that sends a message to her smart
phone if a dose is missed, so she takes her pills on schedule,
returning her blood pressure to the normal range, avoiding
future medical crises.
The Precision Medicine Initiative will also bring many
other types of healthcare monitoring into this new century.
Current evidence suggests that the venerated annual physical
exam and associated screening lab tests may not be as useful as
one would hope.
New opportunities to incorporate much more sensitive and
specific indicators of individual health are emerging. This
National Research Cohort will provide a powerful opportunity to
assess such strategies rigorously to see if they really provide
clinically valid information and, most importantly, to better
health outcomes for the American people.
In closing, let me emphasize that the impact of the
Precision Medicine Initiative will extend far beyond the
individuals who volunteered to participate. It will push the
frontiers of discovery across the entire spectrum of biomedical
research, from basic science aimed at finding new therapeutic
targets to translational science intent on moving research
discoveries into practice for maximum public health benefit.
Given the size of the project and its real-world nature,
evidence of improved health outcomes derived from this
initiative will be attractive for immediate application across
U.S. medical care. With sufficient resources and a strong,
sustained commitment of time, energy, and ingenuity from the
scientific, medical, and participant communities, the future of
precision medicine appears very bright. We really look forward
to working together to make stories like those of Lily and
Carla a reality.
That concludes my testimony. I look forward to answering
your questions.
[The prepared statement of Dr. Collins follows:]
Prepared Statement of Francis S. Collins, M.D., Ph.D.
Good afternoon, Chairman Alexander, Ranking Member Murray, and
distinguished members of the committee. I am Francis S. Collins, M.D.,
Ph.D., and I am the Director of the National Institutes of Health
(NIH).
It is an honor to appear before you today, alongside my dedicated
colleagues, to discuss how we, as a Nation, can advance the health of
the American public by accelerating progress toward a new era of
precision medicine.
As the Nation's premier biomedical research agency, NIH's mission
is to seek fundamental knowledge about the nature and behavior of
living systems, and to apply that knowledge to enhance human health,
lengthen life, and reduce illness and disability. I can report to you
today that NIH leadership, employees, and grantees continue to believe
passionately in that mission.
In January of this year, the President announced a new Precision
Medicine Initiative--a bold, new research effort to revolutionize how
we diagnose and treat disease, including a $215 million investment in
the President's fiscal year (FY) 2016 Budget. We believe that the time
is right for this ambitious initiative, and the NIH and our partners,
the U.S. Food and Drug Administration (FDA) and the Office of the
National Coordinator for Health Information Technology (ONC), will work
hard to achieve this vision.
Historically, physicians have had to make most recommendations
about disease prevention and treatment based on the expected response
of the average patient. This one-size-fits-all approach works for some
patients and some conditions, but not others. Precision medicine is an
innovative approach that takes into account individual differences in
patients' genes, environments, and lifestyles. This concept is not new;
blood typing, for example, has been used to guide blood transfusions
for more than a century. Prescription eyeglasses are tailored
specifically to the patient's individual needs. Moreover, the
identification of the BRCA1 and BRCA2 genes has made it possible to
provide options for women at high risk for breast and ovarian cancers.
The gene implicated in cystic fibrosis has led to widespread
availability of screening and targeted therapeutics.
The prospect of applying this concept broadly has been dramatically
improved by the development of powerful and affordable methods for
characterizing personal biological attributes (such as genomics and
metabolomics), the widespread adoption of electronic health records,
the recent revolution in mobile health technologies, and the emergence
of computational tools for analyzing large biomedical data sets. These
advances will help make possible the dream of personalizing a wide
range of health applications.
With this in mind, we are excited to take a lead in the two key
components of the President's Precision Medicine Initiative that will
be managed by NIH: a near-term goal that will focus on cancer and a
longer term aim to generate knowledge applicable to the whole range of
health and disease. Both components are within reach, due in large part
to scientific breakthroughs in basic research. Furthermore, the
initiative will tap into converging trends in connectivity, through
social media and mobile devices, and Americans' growing desire to be
active partners in medical research in a way that protects their
privacy.
Oncology is the clear choice for enhancing the near-term impact of
precision medicine. Cancers are common diseases and are among the
leading causes of death nationally and worldwide, and their prevalence
is increasing as the population ages. They are especially feared
because of their lethality, their symptoms, and the often toxic
therapies used to treat them. Cancer research has been leading the way
in precision medicine for many years. Thanks to advances in DNA
sequencing and efforts such as The Cancer Genome Atlas project, we now
have a better understanding of the molecular changes that drive many
cancers and we can define the driver mutations in individual tumors and
use this information to design the ideal therapy for each patient.
Genomic information has already helped shape the development of some
cancer treatments. For example, the drug, imatinib (Gleevec), was
designed to inhibit an altered enzyme produced by a fused version of
two genes found in chronic myelogenous leukemia.
While we've made significant strides in recent years to learn the
molecular signatures of many cancers, much more remains to be done. The
National Cancer Institute will accelerate the design and testing of
effective, tailored treatments for cancer by expanding genetically
based clinical cancer trials, exploring fundamental aspects of cancer
biology, and establishing a national ``cancer knowledge network'' that
will generate and share new knowledge to fuel scientific discovery and
guide treatment decisions. Furthermore, we aim to understand the
development of resistance to targeted therapy, apply non-invasive
methods to track patients' responses to treatment such as liquid
biopsies, and explore the efficacy of new drug combinations targeted to
specific tumor mutations.
As a longer term goal of this initiative, NIH will launch a
national research cohort of one million or more volunteers who will
play an active role in how their genetic, environmental, and medical
information is used for the prevention of illness and management of a
wide array of chronic diseases. This component will pioneer a new model
for doing research; one in which people who participate are true
partners. Not subjects, not patients--partners. The goal will be to
expand the benefits of precision medicine into myriad aspects of health
and health care. Participants will voluntarily share clinical data from
electronic health records, results of imaging and laboratory tests,
lifestyle data and environmental exposure recordings tracked through
real-time mobile health devices, and genomic information--all with
appropriate privacy protections.
Participants will be at the center of the project design, and they
will have access to their own health data, as well as research using
their data, to help inform their own health decisions. As volunteers,
each individual will participate because they choose to be a partner in
this bold research effort. Through this dynamic community, researchers
will be able to advance the information derived from this cohort into
new knowledge, approaches, and treatments. Researchers from many
organizations will, with proper protection of patient information, have
access to the cohort's data so that the world's brightest, scientific
and clinical minds can contribute insights.
In order to help inform the vision for building the national
research cohort of one million or more volunteers, a Precision Medicine
Initiative Working Group was recently created. This group of experts in
precision medicine and large clinical research studies is seeking
public input from the diverse stakeholder community interested in the
development of this initiative, including the patient community, and
will articulate the vision for advancing participant engagement. They
will help define what can be learned from a study of this scale and
scope, what issues will need to be addressed as part of the study
design, and what success would look like in the near and longer term.
With the guidance from this team of experts, we will move ever closer
to realizing the goals of this ambitious research program.
A project of this magnitude will lay the foundation for a myriad of
new prevention strategies and novel therapeutics. Although the
initiative will likely yield its greatest benefits years down the road,
there will be successes in the relatively near future as well,
especially in the areas of cancer and pharmacogenomics--how to provide
the right drug at the right dose to the right person at the right time.
Moving forward, this pioneering research initiative will require the
involvement of many different sectors of science and society, including
biologists, physicians, technology developers, data scientists, and
especially the American people. Given related efforts in a few other
countries, we will aim to forge collaborations on a global scale.
With sufficient resources and a strong, sustained commitment of
time, energy, and ingenuity from the scientific, medical, and
participant communities, precision medicine's full potential can be
realized to give everyone the best chance at good health. There's no
better time than now to embark on this ambitious new enterprise to
revolutionize medicine and generate the scientific evidence necessary
to move this individualized approach into everyday clinical practice.
With your support, the future of medicine can be very bright. This
concludes my testimony, and I look forward to answering your questions.
The Chairman. Thank you, Dr. Collins.
Dr. DeSalvo, welcome.
STATEMENT OF KAREN B. DeSALVO, M.D., MPH, MSc, NATIONAL
COORDINATOR FOR HEALTH INFORMATION TECHNOLOGY, WASHINGTON, DC
Dr. DeSalvo. Thank you, Senator Alexander and Ranking
Member Murray and to the other distinguished Senators. Thank
you for the opportunity to be here today with my colleagues,
Dr. Collins and Dr. Shuren.
I'm Karen DeSalvo. I'm the National Coordinator for Health
Information Technology at the Department of Health and Human
Services.
When I was a medical student at Tulane, I could have never
imagined that in my career, I would see medicine on the
frontier of such a significant transformation. As a still
practicing doctor, it is thrilling for me to know that we are
on the cusp of being able to customize treatment for the
patient in front of me based on their genetics, preferences,
and other key information instead of having to treat them as
the average patient.
What is even more exciting is that precision medicine is
not just a theory. It's already changing practice and saving
lives in the United States. We wouldn't be on this cusp but for
health information technology, which is foundational to the
President's Precision Medicine Initiative.
The Office of the National Coordinator is the Federal lead
for health information technology, and ONC's responsibility is
to advance the health IT infrastructure for what is a sixth of
the U.S. economy--healthcare. We do this work through a mixture
of programs, convenings, and technical assistance aimed at
catalyzing the marketplace. We seek to spur and support
innovation to help address important advancements like
precision medicine.
At the same time, we want to provide clear and steady
direction. ONC also has responsibility to ensure that all
consumers are engaged and their interests are protected.
Congress created significant momentum in health IT when it
passed the HITECH Act in 2009. The act provided funding to
support the adoption of electronic health records and technical
supports for doctors and hospitals on the front lines as they
made the transition to use them.
As a result of the HITECH program and the hard work of
providers, we are bringing healthcare into the digital age, and
we have reached a tipping point. The strong foundation of
health information technology makes it possible to bring to the
bedside personalized treatment through precision medicine.
The data in electronic health records, married with
advanced analytics, information from mobile health devices, and
other sources of data, including patient preferences, will
provide the fulsome picture of a person's health and needs.
This comprehensive data picture is necessary to identify the
right prevention and treatment that is not only the most
effective, but also most desired by the patient.
This is not just a vision about what might come but a
reality already. In places like Tennessee and Maryland,
Nebraska, Florida--I could go on--thanks to the tools built
into the electronic health record, doctors are able to tailor
treatment today.
I spoke to folks at the University of Florida Health, where
a patient's cardiologist can order a test to see if they carry
a particular variant of a gene. This test will help the
cardiologist know if they are using the best medicine to
prevent a future clot in the patient's heart. At a critical
time in someone's life, a doctor is choosing the right
lifesaving blood thinner, tailored and specific for them.
Though this kind of treatment is exciting, it is, indeed,
only the beginning. We have much work to do ahead to see that
this is available to everyone in this country as part of
routine care, and ONC stands ready to undertake this work.
To get there, we will need to stay the course in adoption
to see that every American has an electronic health record. We
also need to go beyond the pockets of data exchange and achieve
true interoperability as described in our nationwide roadmap.
We will need to establish standards for the most
fundamental clinical information that are shared by all. We
will also need to establish standards for new data necessary
for precision medicine, including genomics, but also
environmental exposures and patient-generated information.
We will build a trust framework that respects individual
privacy and establishes strong security protections. We will
work with the private sector to establish openly available
APIs, which are doorways to unlock data.
In all of this work, we will remember what I hear
consistently from consumers who are our principal customer.
They want to be able to access and share their health
information, including with scientists if they wish, without
blocking or delay.
The President's Precision Medicine Initiative is one of the
most exciting ways that we can bring the right care, the right
prevention to the right patient, only imagined a few years ago.
It's because of advances like this and the underlying
technology that we have to support it that we are on the cusp
of realizing better care and health for everyone. ONC stands
ready to help further precision with our colleagues at HHS and
with Congress.
Thank you, and we look forward to your questions.
[The prepared statement of Dr. DeSalvo follows:]
Prepared Statement of Karen B. DeSalvo, M.D., MPH, MSc
Chairman Alexander, Ranking Member Murray, and distinguished
committee members, thank you for the opportunity to appear today. My
name is Dr. Karen DeSalvo and I am the National Coordinator for Health
Information Technology. I appreciate the invitation to be here to
discuss how health information technology plays a necessary role in our
Nation's precision medicine efforts.
For far too many diseases, there is no proven means of prevention
or effective treatment. We must gain better insights into the biology
of these diseases to make a difference for the millions of Americans
who suffer from them. Precision medicine is an emerging approach for
disease treatment and prevention that takes into account variability in
genes, environment, and lifestyle for each person instead of a ``one-
size-fits-all-approach.'' While significant advances in precision
medicine have been made for select cancers, the practice is not
currently in use for most diseases. Many efforts are underway to help
make precision medicine the norm rather than the exception. To
accelerate the pace, President Obama has unveiled the Precision
Medicine Initiative--a bold new enterprise to pioneer a new model of
patient-powered research that promises to accelerate biomedical
discoveries and provide clinicians with new tools, knowledge, and
therapies to select the treatments that will work best for individual
patients. Working with our colleagues at the NIH and FDA, our mission
is to improve the lives of all Americans by empowering patients,
research participants, scientists, and providers to work together and
turn new knowledge into individualized treatment and prevention
strategies for a new era of precision care.
To turn the promise of precision medicine into the reality of
better health, we require robust and useful information tools, systems
and practices for participants, providers, and more. As President Obama
stated when he unveiled this initiative,
``This helps us find new cures but also helps us create a
genuine health care system as opposed to a disease care system.
We want each of us to have sufficient information about our
individual differences so that we can make better life
decisions.''
This goal cannot be realized without unlocking the data stored in
various health information technology tools to ensure consumers have
access to their own health data--and to the applications and services
that can safely and accurately analyze it--so that in addition to
treating disease, we can empower individuals and families to invest in
and manage their health in partnership with their clinicians.
Health information technology is the foundation required to bring
precision medicine to operational life. Genomics helps to define us as
individuals, and is one kind of important data for precision medicine.
Other data of emerging importance to our health include microbiomes or
bacteria and other microbes that share our bodies, environmental
exposures or ``exposome,'' social determinants of health, and personal
lifestyle choices--all of which provide us with more detailed knowledge
about ourselves.
We at the Department of Health and Human Services have recognized
the importance of this data to advance better health and a healthier
Nation, and have been working over the years to further refine our
information infrastructure through health information technology
adoption, policy development, and innovation by both the public and
private sector. The Office of the National Coordinator for Health
Information Technology (ONC) was established by Executive order in
2004, charged with the mission of giving every American access to their
electronic health information when and where they need it most. In
2009, ONC was statutorily established in the Health Information
Technology for Economic and Clinical Health Act (HITECH), enacted as
part of the American Reinvestment and Recovery Act of 2009 (ARRA).
HITECH also provided the resources and infrastructure needed to
stimulate the rapid, nationwide adoption and use of health IT,
especially electronic health records (EHRs). In the 6 years since the
HITECH Act was enacted, we have seen dramatic advancement in the use
and adoption of health information technology. The combined efforts of
initiatives like the Regional Extension Centers, the ONC Health IT
Certification Program, use of standard terminologies, and the CMS
Medicare and Medicaid EHR Incentives Programs have brought us past a
tipping point in the use of health information technology. Today, we
are irreversibly on the path to a digital health care system.
Since I became the National Coordinator in January of last year,
HHS has been working intensely to harness both the health care
industry's energy and consumer demands for interoperability to drive
improvement in health--we feel the strong sense of urgency and have
acted on it quickly. The Nation asked for a clear strategy to get to
interoperability and a learning health system, and we delivered that
plan in Connecting Health and Care for the Nation: A Shared nationwide
Interoperability Roadmap Draft Version 1.0. We received broad feedback
and have heard agreement from critical stakeholders like developers,
consumers, providers, technologists, and others that this plan is the
right path forward, and that they would like to work with us to advance
interoperability. The roadmap explains that to get to interoperability
as quickly and safely as possible we need to buildupon the current
infrastructure and we need to pursue three immediate goals.
First, we need to focus on ensuring that applicable standards are
consistently used, including standards for application programming
interfaces, health care terminology, implementation, and security.
Second, we need to foster an environment of trust where individuals can
access their data, and where that data is kept private and secure.
Third, we need to incent, through consumer demand and delivery system
reform, interoperable movement and use of electronic health information
that endures and is self-sustaining. These three goals will ultimately
advance health care and health.
Our work in interoperability matters because it is what the Nation
expects, but also because, in order for physicians, scientists,
researchers, individuals and other partners to provide care tailored to
the specific needs and characteristics of individuals, they will need
to be able to access individual level information to learn more about
how to treat patients, and ultimately improve the diagnosis, treatment,
and prevention of diseases. This information cannot flow in the form of
mail or fax to partners across the country--it must be quickly,
efficiently and appropriately available electronically, and with
patient consent when required by law, we must be able to apply the
incredible speed and computing power available in the 21st century to
help us analyze the data.
To advance this work in precision medicine, ONC will build on our
strong foundation through our standards advancement authorities, our
regulatory authorities, our policy expertise and our deep connection
with the private sector and consumers, in close coordination with our
Federal partners. As proposed in the President's fiscal year 2016
budget, ONC would fund standards--coordination and development--to
advance the basis on which precision-based medicine can be practiced.
ONC's $5.0 million funding proposal will lay the groundwork to achieve
many of the milestones included in the Interoperability Roadmap's
milestones for how health IT can support a learning health system. ONC
will engage industry stakeholders to identify the standards,
technology, and policy necessary to support big data analyses and
precision medicine with appropriate privacy protections. Working
closely with our many partners, ONC will aggressively pursue a
portfolio of standards and technology initiatives that support
precision medicine and protect user privacy, such as the
standardization and use with consent of patient-generated health data
from non-clinical settings; the incorporation of genomic data into
health IT with appropriate protections; patient identity management and
matching with consent to permit linked analyses; a patient's ability to
access their data and contribute it to research projects, and new
platforms for clinical trial recruitment through the use of health IT.
Health information technology and information sharing plays a
fundamental role in the President's Precision Medicine Initiative to
improve care and speed the development of new treatments. We look
forward to building on our current foundation and reaching for the
future of better health for all Americans. Thank you again for inviting
me today.
The Chairman. Thank you, Dr. DeSalvo.
Dr. Shuren.
STATEMENT OF JEFFREY SHUREN, M.D., J.D., DIRECTOR, CENTER FOR
DEVICES AND RADIOLOGICAL HEALTH, FOOD AND DRUG ADMINISTRATION,
SILVER SPRING, MD
Dr. Shuren. Chairman Alexander, Ranking Member Murray, and
distinguished members of this committee, thank you for the
opportunity to testify regarding FDA's role in the
administration's Precision Medicine Initiative.
The success of precision medicine depends upon having
accurate, reliable, and clinical meaningful tests, because it's
the results of the tests that determine which patients get
which drugs or treatment and whether or not they get them.
Imprecise medicine results from bad tests. You have
misdiagnosis, you get the wrong treatment, or you get no
treatment at all when you should, and as a result, patients get
harmed and healthcare costs go up.
FDA's role in the Precision Medicine Initiative is
primarily focused on advancing an emerging technology called
next-generation sequencing or NGS. NGS tests can sequence long
segments of a patient's DNA or even the entire genome. As a
result, we're moving away from the model of one test, one
disease, but a test that can identify one of many different
diseases or even the risk of developing that disease.
Today, there are significant barriers in place for
advancing that technology. It affects our research, it affects
development, and it affects our ability to use this optimally
in healthcare. Let me tell you what some of those barriers are
and what we're doing about it.
If you're making a test, and you want to know if it's
accurate, reliable, and clinically meaningful, two of the
things you need to know are the following. One, does it
accurately measure what you're trying to measure, in this case,
genetic variants, to identify the right variants? We call that
analytical validity.
Second, you want to know: If there is a good relationship
between what you measure and the particular disease? To test
for breast cancer, is that variant, in fact, associated with
breast cancer? We call that clinical validity.
Today, that's difficult to do for next-generation
sequencing, and here's why. Think about the human genome. You
have about 3 million variants, and your genes are made up of
components called base pairs. There are 3 billion of them. You
want to know: How accurate is next-generation sequencing tests
to measure all of that?
Normally, you would look at each of the variants. You can't
assess the accuracy of 3 million variants. It would take
forever. There aren't good standards out there to assess it, so
people are struggling to make sure their tests are accurate.
Then you want to know: Is it clinically meaningful? Well,
you need data for that. The problem is many of these variants
are uncommon, so it's hard to get a lot of clinical data. It's
difficult to do clinical studies, and that data tends to be
siloed in the institutions that are doing the testing.
In December, we proposed an entirely different framework
for the oversight of next-generation sequencing tests, tests
we've regulated for a long time, but we and the developers had
struggled on what to do with it. So for analytical validity, we
need to have reference standards, essentially subsets of
genetic variants that if you can show accuracy in measuring
those, it is reasonable to infer you're good at measuring the
other variants.
In fact, we gave $2 million to the National Institute for
Standards and Technology, NIST, to work with the scientific
community to come up with the very first reference standard for
the genome, and they just released that last week. Under this
initiative and with additional funding support, we will
continue to work with NIST and the scientific community on
developing additional reference standards, and as a result,
developers wouldn't have to come to the FDA to show they're
analytically valid. They would just meet that standard.
For clinical validity, we need to leverage databases,
curated databases, where we get all of that siloed genetic
information, and then make sure it's standardized and it's of
sufficient quality that we can make decisions on it. We're
partnering with Francis and his team to take advantage of a
database they have called ClinVar and the curation activity
behind it called ClinGen, and then working with them and the
scientific community to develop standards and best practices
for having these databases, for doing the curation, and then
having consistent clinical interpretation.
Because you know what happens today? You can send your
blood to different genetic testing labs, and you can get
different results. That's what happens. It may be because you
missed the particular genetic variant, or you interpret it
differently. With those standards in place, we can now have
consistent accuracy in testing and consistent clinical
interpretation and reduce the time and cost to spur research,
to advance technology development, and ultimately to achieve
better health outcomes.
Thank you.
[The prepared statement of Dr. Shuren follows:]
Prepared Statement of Jeffrey Shuren, M.D., J.D.
Chairman Alexander, Ranking Member Murray, and members of the
committee, I am Dr. Jeffrey Shuren, Director, Center for Devices and
Radiological Health (CDRH) at the Food and Drug Administration (FDA or
the Agency). Thank you for the opportunity to be here today to discuss
the important role FDA is playing in the Administration's Precision
Medicine Initiative as part of our mission to protect and promote the
public health by ensuring the safety, efficacy, and quality of medical
products.
The President's Precision Medicine Initiative, launched in January
2015, is a new effort to revolutionize how we improve health and treat
disease in the United States. The initiative will pioneer a new model
of patient-powered research that promises to accelerate biomedical
discoveries and equip clinicians with new tools, knowledge, and
therapies to select which treatments will work best for which patients.
Additionally, through collaborative public and private efforts, the
initiative will leverage advances in genomics, emerging methods for
managing and analyzing large data sets, and health information
technology to accelerate biomedical discoveries, all while protecting
patient privacy.
A key technology that will advance the Precision Medicine
Initiative is Next-Generation Sequencing (NGS) technology.\1\ NGS tests
can rapidly sequence large segments of an individual's DNA and even an
individual's entire genome. In fact, an NGS test is capable of
detecting the billions of bases in the human genome, and in doing so
identify the approximately 3 million genetic variants an individual may
have. A single use of an NGS test could enable the diagnosis of any
one, or more, diseases or conditions a patient presents with or help to
predict a patient's risk for numerous conditions.
---------------------------------------------------------------------------
\1\ Next-Generation Sequencing, also referred to as ``massively
parallel sequencing'' or ``high-throughput sequencing,'' refers to
technologies that perform DNA sequencing in parallel, allowing for the
production of thousands or millions of sequences concurrently.
---------------------------------------------------------------------------
The use of NGS tests also is accelerating the pace of scientific
discovery, as the compilation of large amounts of genetic information
in scientific databases and electronic health records enables
scientists to perform observational studies and computer modeling to
better understand whether and how certain genetic variants, including
very rare variants, are linked to certain conditions and diseases. As
the Initiative moves forward, we expect NGS technologies to play a
central role in both research and clinical practice.
For precision medicine to succeed, NGS tests must be accurate,
reliable, and clinically meaningful. As with other diagnostic tests, an
inaccurate NGS test can lead to patients receiving the wrong
diagnosis,\2\ the wrong treatment, or no treatment at all, even when
effective therapy is available. Inaccurate NGS tests can impose
unnecessary costs on the health care system. Inaccurate tests could
cause healthy individuals to seek further testing and treatment to
address an erroneous belief that they have, or could develop, a certain
condition or disease. As an example, if a patient was informed that she
had a dominant mutation that confers increased risk for breast and
ovarian cancer, that patient might choose to have complete mastectomy
and hysterectomy, in order to prevent future cancer. In addition, the
patient's family would be alerted to their own genetic risk. If the
test results were inaccurate, the prophylactic surgery and all the
family followup may not have been necessary. As treatment for cancer
becomes more influenced by genetic testing of the tumor, and treatment
based on type of mutation, it is increasingly important to ensure
accurate and reliable tests. Thus, FDA oversight is critical to protect
the public health and to maximize the benefits of precision medicine.
---------------------------------------------------------------------------
\2\ Here, ``diagnosis'' refers to the ``diagnosis of disease and
other conditions, including a determination of the state of health, in
order to cure, mitigate, treat, or prevent disease'' (21 Code of
Federal Regulations 809.3(a)), and includes but is not limited to
diagnosis, aid in diagnosis, prognosis, therapy selection/dosing,
monitoring, and risk prediction.
---------------------------------------------------------------------------
The capabilities of NGS tests and their rapid evolution, however,
pose unique challenges to applying FDA's traditional regulatory
approach for determining whether a diagnostic test is accurate and
reliable (analytical performance) and if the results from the test
correctly identify the relevant disease or condition (clinical
performance) on a test-by-test basis. Specific challenges related to
NGS tests include:
The need to evaluate the ability of the test to produce
accurate and reliable results. Because NGS can identify an essentially
unlimited number of variants, it would be difficult, if not impossible,
to demonstrate performance on every possible detectable variant, as it
would for other tests. Instead, FDA has accepted novel strategies to
demonstrate the analytical performance of NGS tests while maintaining
appropriate oversight to protect patients.
Because NGS tests can routinely identify variants that are
shared by only a few individuals, traditional clinical studies
establishing the link of such variants to disease are not feasible.
Instead, the clinical performance of NGS tests will rest in many cases
on the ability to aggregate evidence from many diverse sources.
Although the unique features of NGS tests create regulatory
challenges, these same features also provide opportunities for novel
solutions to regulatory oversight:
The accumulation of data from NGS testing is enabling
scientists, clinical labs, and regulators to better understand NGS
outputs and error modes. NGS used in research and in diagnostic testing
is generating a large amount of data that can be leveraged in further
research, clinical trials, databases, and learning health systems to
further evaluate the analytical and clinical performance of NGS tests.
The large amount of cross-genome data generated by NGS
tests could allow unique approaches, such as novel metrics and
computational approaches, for assessing test performance.
More generally, the cumulative generation of data through
the increased use of NGS testing could help spur additional research in
genomics and precision medicine.
The challenges and opportunities described above are now presenting
themselves as realities because of the critical mass of genomic data
that has been accumulated by researchers and clinicians. Thus, it is
clear that new regulatory approaches will be needed to enable the
Agency to provide appropriate oversight, in a way that is more suitable
to the complexity and data-richness of this new technology, and to
ensure that NGS tests have adequate analytical and clinical
performance.
Recognizing the importance of NGS tests under the President's
Precision Medicine Initiative, FDA is committed to developing a new
approach for evaluating NGS tests. The work under the President's
Precision Medicine Initiative builds off of efforts FDA has taken in
the last several years to understand NGS technologies and to identify a
regulatory framework that ensures safety and effectiveness while
enabling innovation in the field.
Since 2011, FDA has hosted several public workshops examining
various aspects of NGS, and has interacted extensively with scientists
and other subject matter experts at conferences and in other
professional venues. In addition, FDA personnel have also participated
in developing standards and tools for the scientific community, such as
the Next-Generation Sequencing: Standardization of Clinical Testing
(Nex-StoCT) Workgroup and the Genome in a Bottle Consortium. These
efforts helped to inform the essential elements of a new regulatory
approach to NGS technologies.
In 2013, FDA cleared the first NGS instrument as well as two NGS
tests for cystic fibrosis. In doing so, the Agency adapted its
traditional regulatory approach to diagnostics. For instance, FDA was
able to rely on a well-curated, shared database in assessing the
validity of the 139 genetic variants involved in the assay, rather than
requiring the test's manufacturer to independently generate data to
support each variant's association with the disease. This not only
reduced the burden for the manufacturer, it significantly improved the
timeliness with which the product was able to be made available to
clinicians and the public.
FDA now seeks to build on its successful past approaches to create
an efficient and dynamic system for providing regulatory oversight of
NGS tests. In December 2014, the Agency issued a discussion paper,
Optimizing FDA's regulatory oversight of next generation sequencing
diagnostic tests--preliminary discussion paper,\3\ to gain public
feedback. The paper outlines new regulatory approaches under
consideration for both analytical and clinical performance of NGS
tests.
---------------------------------------------------------------------------
\3\ Food and Drug Administration. Optimizing FDA's regulatory
oversight of next generation sequencing diagnostic tests--preliminary
discussion paper. http://www.fda.gov/downloads/MedicalDevices/
NewsEvents/WorkshopsConferences/UCM427869.pdf.
---------------------------------------------------------------------------
For analytical performance, the paper discusses an approach based
on the development of quality-based standards\4\ for NGS test
performance. These standards would be created in collaboration with the
leading experts from the field of genomics. Conformance to such a
standard could potentially provide assurance that an NGS test meets an
acceptable level of performance, and that the results generated are
reliable and accurate.
---------------------------------------------------------------------------
\4\ Here, the term ``standards'' encompasses: metrics and tools
that can assess the metrics, best practices, and more specific
technical or other standards that would be developed by a recognized
body.
---------------------------------------------------------------------------
For clinical performance, the paper discusses the use of high-
quality curated genetic databases that provide information on genetic
variants and their association with disease to better establish the
clinical performance of NGS tests by providing evidence about such
associations and the strength of that evidence. As an example, NIH has
created the ClinVar database, which houses information about genetic
variants and their association with disease that has been shared by
clinical laboratories, researchers, and other sources. Recently, NIH
has funded external geneticists to curate entries in the ClinVar
databases, under a program called ClinGen. FDA is now collaborating
with NIH to understand how to use the curated data in ClinVar to
support regulatory review of NGS tests. Use of curated databases, such
as ClinVar, can provide a dynamic system for test developers to capture
and update the clinical meaning of their tests, based on the latest
evidence.
Both of these components--a standards-based approach to test
performance and the use of community-generated evidence--could provide
a dynamic and efficient regulatory system that could enable developers
and users to seamlessly alter and improve their NGS tests as needed to
advance the practice of precision medicine to benefit patients.
A key component of FDA's work under the President's Precision
Medicine Initiative is to engage with stakeholders to inform any new
regulatory approach adopted for NGS tests. Moreover, FDA is committed
to drawing on the knowledge of the scientific community to help inform
the Agency's approach to NGS oversight. Thus, the first action taken by
FDA, after the launch of the Precision Medicine Initiative, was holding
a public meeting in February 2015, with a broad range of stakeholders
to discuss the regulatory approaches outlined in FDA's NGS discussion
paper, and to hear experiences and ideas on NGS from the clinical and
research communities. Nearly 1,000 individuals attended the meeting,
and there was general consensus that an innovative regulatory approach
was needed in order to balance NGS innovation and appropriate
oversight. FDA is now reviewing feedback from the stakeholders to
inform the development of more specific regulatory proposals that will
be released for public comment.
As a first step to creating these proposals, FDA is meeting with
the scientific community and other stakeholders to develop the
standards, technical solutions, and best practices necessary to create
a comprehensive proposal. In fiscal year 2015 and fiscal year 2016, FDA
plans to issue additional white papers, and, if necessary, guidance,
and convene further public workshops to work out the specifics.
To support this essential work, the President's fiscal year 2016
budget includes $10 million to FDA to acquire additional expertise and
advance the development of the regulatory structure needed to advance
innovation in precision medicine and protect public health.
We now are entering a time of rapid scientific advancement with an
eye toward precision medicine occurring in everyday clinical practice.
For precision medicine to fully succeed, our regulatory approach must
be crafted in a manner that facilitates innovation, is sufficiently
nimble to new scientific and technological advances, allows the public
to have timely access to newly developed tests, and ensures that those
tests are accurate, reliable, and clinically relevant.
Thank you for your continued interest in this important topic and
for the opportunity to testify regarding FDA's contributions to
progress on this issue. I am happy to answer any questions you may
have.
The Chairman. Thank you, Dr. Shuren.
We'll now have a round of 5-minute questioning.
Dr. DeSalvo, in 1980, when I was Governor of Tennessee, I
had the big idea that all eighth graders would become computer
literate. I flew to San Francisco, met with Steve Jobs, and
bought enough Mac computers--they were big tall things then--to
put in all the middle schools. It was a great idea. It sounded
good.
I forgot something. I forgot teacher training. Nobody
really knew how to do it. I didn't think it all the way through
the end. We have something of the same problem with our
electronic healthcare record system. We spent $28 billion. It's
a great idea. It holds great promise. It's not working the way
it's supposed to.
The current standards for meaningful use aren't clear.
Upgrades are expensive. The systems don't work well enough to
share the data. We hear it's expensive to share the data
because of the relationships between vendors and doctors. Some
of the doctors call this data blocking. You just released a
report on data blocking describing these concerns.
Senator Murray and I have set up a working group to work on
this because of the large amount of interest in our committee
on the subject. My question is: Will you work with us, this
committee, to identify the five or six steps we could take to
get our electronic medical records system functioning well
enough so that it supports not just the precision medicine
effort that we have, but so that it functions and it's
something that physicians and providers can look forward to
using instead of enduring?
Dr. DeSalvo. Yes, Senator. I very much look forward to
working with you all on identifying ways that we can make this
work for doctors and others on the ground, on the front lines,
because that's where it really matters, where the workflows are
sometimes not the way they ought to be. They can be clunky. We
look forward to that, and you can count on our participation
very actively.
We have some efforts underway. As the Senator is likely
aware, we've been working through our rules for meaningful use,
for certification, the blocking reported and other strategies.
We know there's more work to be done, and we look forward to
that.
The Chairman. Well, good. What I'm talking about here is
actually beginning to get some results. I mean, identifying the
five or six steps we should take--you should know them better
than we, really, although Dr. Cassidy has some personal
experience in this he will give us, I'm sure--and then going
step by step to get them done. If you can do them by
administrative order, terrific. If we need to do something,
we'll include them as part of our innovation initiative and
begin to do what we ought to do.
Dr. Collins, 1 million genomes--I mentioned I was visited
by the head of Philadelphia's Children's Hospital. They have
250,000 sequenced genomes. I have two questions. Well, one
question. How many of these are already out there? I mean, you
want to assemble a million. They've got 250,000 in
Philadelphia. Dr. Venter wants to assemble a million.
Can you get your 1 million genomes simply by going to
places like the Philadelphia Children's Hospital and using some
of theirs?
Dr. Collins. That's a great question, Senator. We are, in
fact, trying to come up with every possible way to assemble
this million-strong cohort by taking advantage of things that
have already been done instead of having to start from scratch.
We will, in fact, have a major meeting in your State on May 27
and 28 with a number of those who have been managing these
large-scale cohorts, gathering together to see if there is a
way to put them together in a way that would prevent us from--
--
The Chairman. Can you estimate the number of genomes that
have been sequenced?
Dr. Collins. I should be clear. When you say genome
sequencing, some people are referring to a sampling of some of
the base pairs in the genome, a genotype. A snip chip is the
term that's often used. Some are talking about sequencing just
the parts of the genome that code for protein, and we call that
the exome, e-x-o-m-e.
To do a whole genome sequence is substantially more
expensive but is becoming now quite affordable. Most of the
cohorts that are out there have not yet done whole genome
sequencing. The group in Philadelphia is doing that with some
of their patients, but not with many of them. Dr. Venter
certainly has the intention in his Human Longevity Institute of
doing a lot of whole genome sequencing. We believe that to get
the maximum information, you want that.
The Chairman. Let me ask you quickly--Senator Murray has
emphasized the importance of making sure everyone or a
representative group of everyone is included in this. What
about children? I mean, the suggestion was made this morning
that sequencing the genome of a child for a genetic defect
leading to a particular disease can be less complicated than
for an older person who may have a more complex disease. Will
you include children and the single gene therapy treatment as
part of what you do?
Dr. Collins. That is an active area of investigation by our
working group. Let me explain that. We assembled a group of
both public and private experts on this whole question of this
million-strong cohort. They have met once, last week. They will
be meeting again, specifically, to talk about what should be
the constitution of this cohort. Should children be included?
What should we do about individuals that may not otherwise be
asked to participate?
We want to be sure this covers diversity of our population
as well. Some of the cohorts that are already out there may not
be as diverse as what we need. We will figure this out. There
is a desire, however, Senator, to have this be something that
represents the broad swath of our country. There will be a
strong motivation for many people to include children.
The Chairman. Thank you.
Senator Murray.
Senator Murray. Well, thank you again to all of you for
being with us.
Dr. Collins, we've heard a lot about how precision medicine
is revolutionizing the practice of medicine, allowing for
development of targeted cures for individuals. I'm also
interested in the economic impact of this work.
We know that precision medicine is not only about treatment
but about prevention, and we have a lot to learn about how
factors like environment and nutrition impact individual health
outcomes. How might these discoveries impact healthcare costs?
Dr. Collins. Well, I do appreciate that question, because
we all agree that healthcare costs need to be brought under
control, and a lot of the concern about our current system is
that it is more a sick care system than it is a healthcare
system. If we had the opportunity to focus more on prevention
instead of waiting for illness to strike, we would both improve
the health of the Nation and save money.
The Precision Medicine Initiative aims with this million-
strong cohort to focus very intensively on prevention and to
find out what actually works. I mentioned in my opening
statement something about the fact that our annual physicals,
which many of us sign up for, probably don't collect the kind
of data that ultimately you'd like to have that might be a tip-
off to something that needs attention.
The opportunity to begin to use many of these new tools, as
well as these wearable sensors that are reporting on the
environmental exposures and the body's performance under
various situations, should put us in a much better situation to
monitor individual health before an illness strikes. I don't
want to over-promise the value that this will result in as far
as cutting healthcare costs and bending that curve that we all
want to see start downward again, because I think it's a longer
term initiative. I would think over the course of time, this is
one of the best opportunities we will have to cut our
healthcare costs.
Senator Murray. You know, one of the exciting things about
precision medicine is that it's empowering patients and people
to participate and be full partners in discovery of new
treatments. You mentioned the new mobile and wearable health
technologies that are out there that allow researchers to
collect data on how participants' behaviors impact their health
outcome.
I know that all of your agencies are working hard to find
new ways to engage patients in their own health and sustain
participation among people that are involved in research
studies. What are the best practices in patient engagement to
ensure sustained participation throughout these precision
medicine studies?
Dr. Collins. Another great question. Certainly, there are a
number of cohorts that have already engaged a lot of patients
that we are going to be consulting with about what their
experience has been. Kaiser Permanente has a large cohort. The
Mayo Clinic, Marshfield, has one, and Geisinger in
Pennsylvania. All of these have done a lot of work to figure
out what it is that people are looking for if they're going to
participate.
An important part of what we're trying with this initiative
is not to think of the individuals who take part as patients.
They're really partners. They're participants. We want to have
them at the table. We will have a workshop July 1st and 2d
which is focused specifically on trying to get input from
individuals about what they're looking for.
What we could already say is that people expect, if they're
going to be part of this, that their information is going to
help people. There's a lot of altruism involved in taking part.
They also would like to get information back about
themselves, in terms of what's been learned about their own
state of health and what has this study led to in terms of
broader discoveries that might not have happened otherwise.
They want to be included. They want to be informed. They want
to be at the table. We promise that is the attitude we will
bring to this.
Senator Murray. Very good.
Let me ask you, Dr. DeSalvo--we've seen several high-
profile sophisticated attacks on healthcare organizations in
the last few months. Americans expect that healthcare providers
and researchers are taking the necessary precautions to protect
their data. That's why I mentioned working with Senator
Alexander on the current State of cyber security in the
healthcare industry.
Can you tell us what steps ONC is taking to help
researchers keep the large amount of genetic and other health
information that they are collecting secure?
Dr. DeSalvo. Thank you for the question, Senator. We agree
with you. It's a major issue. It's something that's on top of
our mind every day. The steps we have taken most recently, for
example, are to require in the electronic health records that
data is encrypted at rest and in motion so as you move to
interoperability and data is moving across systems it also
needs to be secure and encrypted.
We are working with, for example, the Department of
Homeland Security, with the National Security Council and
others to ramp up the additional security expectations,
because, again, as data begins to move and be more liquid,
there's more opportunity for there to be security issues. It's
a top priority. We have taken some actions, and we have some
additional ones that are underway.
Senator Murray. Dr. Collins, what is NIH doing to protect
patient privacy?
Dr. Collins. We've already initiated a genome data sharing
policy which has been in place for several years, because we
have been conducting studies, as you might know, to try to
understand genetic contributions to diseases like Alzheimer's
or schizophrenia or heart disease. The conditions under which
then that data can be shared is rather carefully overseen.
Qualified researchers can apply to see that data, because
we think much is gained by having it accessible. It has to be
overseen in a way to make sure that the individuals who are
looking at the data are appropriately signing on to various
restrictions, such as not sharing it with third parties and
acknowledging where it came from. That has been very successful
over several years. I think we have a pretty good framework
there.
We do think there are some things that are needed in order
to protect genetic privacy and make sure that it is not
acquired by individuals who do not have the right to do so,
that there ought to be something to avoid surreptitious genetic
testing of individuals without their consent.
Senator Murray. Thank you very much.
Thank you, Mr. Chairman.
The Chairman. Thank you, Senator Murray.
Senator Cassidy has deferred to Senator Hatch, and then
Senator Franken.
Statement of Senator Hatch
Senator Hatch. Well, thank you, Mr. Chairman.
Thanks to all of you. We appreciate the work that you're
doing. We've been following it for many years and really
appreciate it. In Utah, we have a large database, too, and I
wonder if that could be part of the million-person cohort,
because the Utah population database is the world's largest
repository of computerized family histories, and it's linked
with more than 22 million public health and clinical records.
Scientists at the University of Utah have been able to use
this non-commercial resource to identify dozens of genes
responsible for diseases. The Utah Genome Project is harnessing
the power of Utah's large families to discover new disease-
causing genes that underlie conditions such as diabetes, heart
disease, obesity, and cancer.
These large families accelerate the pace of genetic
discovery by magnifying our ability to identify disease-causing
genes. By harnessing the advantages gained through using these
large families and large cohorts, our folks in Utah can make
significant contributions to what you're trying to do here. I
would just like to know if you think they would be useful, and
if I can play a role in getting the University of Utah and you
to work together.
Dr. Collins. We are, indeed, and, Senator, thank you for
the question. Utah has been in a wonderful place as far as the
ability to do remarkable research in human genetics over many
decades, research that I've personally benefited from
collaborating with over decades of my own research career.
You're right. You have an unprecedented level of depth in terms
of family collections.
One of the things that we are going to be wrestling with a
bit in terms of this cohort is exactly what ought to be the
involvement of multigenerational pedigrees. It does bring
considerable strength to the effort, and that will be a topic
of discussion also at this workshop later this month in
Nashville.
I would say that the Intermountain Healthcare system, which
obviously involves lots of folks in Utah--I should have
mentioned it on my list a minute ago of those that have already
generated cohorts. They have a very strong presence in this as
well. I'm quite sure when the dust all settles, this Precision
Medicine Initiative will have a Utah connection.
I saw that wonderful piece this morning in the Deseret News
talking about some of this, and I think there's a lot of
excitement across the scientific community and across the
country about what this might lead to. I appreciate you
volunteering to help us.
Senator Hatch. Well, thank you so much, and we do want to
help you. The University of Utah has a genetics department
about as good as anybody can have. In fact, we've irritated
Harvard to death by enticing a number of very top researchers
to Utah. They like the mountains and the skiing as much as
anything, but they wouldn't leave once they get there. We'd
love to be of great assistance to you.
I, personally, appreciate all three of you. I know a little
bit about what each of you do, and I've taken a great interest
in what you do over these many years. As I've been chairman of
the Finance Committee, I haven't had as much time to spend in
this committee, which I used to chair.
I just want to compliment the distinguished chairman and
Ranking Member here for the good work that they're doing.
They're terrific leaders in the U.S. Senate, and I just want to
personally express that.
Thank you. I appreciate all three of you being here, and I
appreciate the work you're doing.
Dr. Collins. Thank you, Senator.
Senator Hatch. Thank you.
The Chairman. Thank you, Senator Hatch.
I almost had to give Senator Warren equal time there, but
she'll have--just so you'll know, the order I'm calling on
Senators is based on who was here at the time the gavel went
down. Based on that, on the Republican side, Cassidy and
Collins are next, and on the Democratic side, it's Franken,
Bennet, Warren, and Murphy.
Senator Franken.
Statement of Senator Franken
Senator Franken. Thank you, Mr. Chairman, and thank you to
the Ranking Member for holding this hearing. Precision medicine
is extremely exciting.
Those of us in Minnesota thank you, Dr. Collins, because
Mayo and the University of Minnesota have been doing a genomics
project funded by you--so very smart on your part.
This is exciting, because there's really been a paradigm
shift in the way we think of healthcare in this country. In
some part, due to the healthcare reform law, healthcare
providers and insurers are moving more toward person-centered
care, and I'm talking about coordinated care, medical homes,
ACOs that provide incentives and information that help doctors
tailor their practice, their treatments, their therapies to
meet the needs of individual patients.
That's, of course, what precision medicine is all about,
making sure the right patients get the right treatment. The
right treatment doesn't, as you were saying, Dr. Collins--
doesn't necessarily mean--it isn't treating people when they're
sick. It's about healthcare, not sick care, and using
personalized medicine should improve prevention, so that we are
doing healthcare and not sick care.
Dr. DeSalvo, I do want to talk to you about what you said,
which is we're at a tipping point in the adoption of medical
health records and electronic health records. I just want to
talk about that, because we had a hearing on that not so long
ago, and there are some barriers to adoption by certain medical
providers, some resistance, some because of doctors who feel
like ``I've got 20 minutes with this patient, and I don't want
to spend eight of it inputting data.''
On the other hand, this is where we're going. What are you
doing to address that, and what are some good models? I've
heard of things like having a scribe whose job--like a medical
student who is there with you and who is taking down the
information. We need to get there. What are we doing to get
there?
Dr. DeSalvo. Well, Senator, thank you for raising the voice
of a lot of doctors in this country. I hear similar things when
I travel and talk and from my own family members, including my
husband, that there are--it's been a great advancement. We're
going forward. Folks want to go there. However, the systems are
not a part of the workflow in the way that we want or expect in
clinical practice.
The opportunities there include giving more time for
providers to be able to implement the systems on the front
line. The Senator may be aware that in the last year, we have
put forward some rules with CMS to provide additional
flexibility in timing of the adoption of records or upgrading
to new ones and also to propose in this last set of rules
giving doctors the option of a more streamlined approach to the
kinds of ways that they have to report, so reducing the burden
or the expectation on the amount of clicks that they must do to
show that they're functionally using the records.
We are working toward a goal of a shared expectation that
this is going to be an enabler and really support them, and I'm
committed to continuing in that path.
Your point about successes on the ground and tools that
doctors have used in their office practice and otherwise--is it
really important we collect those--there are health IT fellows
program, as an example--and share those. It varies by doc and
by office what's going to work for them--sometimes using a
dictation system and then having some assistants to transcribe
over it. Sometimes it's a scribe.
Sometimes working with the electronic health record, they
have had so much time that they've been able to make the
systems as seamless as possible for them. A State like
Minnesota is so far advanced in health IT, as I'm sure you're
aware, and has had many more years in to make sure the systems
are working. We're not finished with----
Senator Franken. Thank you. I don't mean to interrupt you.
Dr. DeSalvo. Yes. I'm sorry.
Senator Franken. We can talk about this for a long time,
but I want to get one quick question to Dr. Shuren.
I have a question about how the tests at FDA--those tests
that the FDA is going to be assessing. One thing that concerns
me is that some tests may get quite expensive, and I want to
make sure that I understand how they and the highly
personalized care that precision medicine can provide will
benefit everyone and won't contribute to health disparities in
our country.
My questions are: Will these tests be considered diagnostic
tests or preventative tests? Who is going to be paying for
them?
Dr. Shuren. Well, in the case of next-generation
sequencing, they can be used potentially for both diagnosis and
for predicting and, therefore, prevention purposes. It all
depends upon--do you have the data to show that that particular
test can perform in such a way.
In terms of reducing cost, there's the opportunity for
reducing cost for those technologies to be developed, because
if we have the standards I talked about, and we have those
databases of information, it will be a lot less expensive to
have the science. In the past, you do a clinical study to show
if your test actually predicts or diagnoses that disease. With
the databases, you might be able to point to that data.
Essentially, the clinical community is crowd sourcing the
evidence.
We just did that recently with--two years ago with a test
for cystic fibrosis, where first, we approved that NGS test
based upon a subset of variants. And, second, they were able to
use data in a database at Johns Hopkins that was supported by
the Cystic Fibrosis Foundation and didn't have to do a clinical
study, dramatically reducing the cost of bringing that test to
market.
Who pays for it? Hopefully, the insurers will pay for it at
the end of the day, because if you have good technology, it's
of no value to patients if they don't have access to it. If
they can't afford it, they won't have access.
Senator Franken. There's no question that precision
medicine can bring down our costs, and, certainly, as I just
don't--I worry about a brave new world where certain people
have access to certain things. I'm out of time. I would just
ask unanimous consent to submit a statement from Senator
Klobuchar to the hearing record.
The Chairman. Of course. It will be done. Thank you,
Senator Franken.
[The information referred to may be found in Additional
Materials.]
Senator Cassidy.
Statement of Senator Cassidy
Senator Cassidy. Dr. DeSalvo, we've had a GAO report in the
past that the VA and the DOD needed to do much better to
coordinate their records. Clearly, electronic medical records
are critical to precision medicine, both the research thereof
and the implementation.
I hear that there's an $11 billion DOD contract going out,
and I'm not quite sure that it's coordinating with the VA. We
had testimony recently about how there's a lack of
interoperability, so one of the systems being considered or two
of the systems being considered by DOD are those mentioned as
lacking interoperability.
I feel like we're in a thicket here, and we can't get out.
All we know is that we're about to spend $11 billion on
something that the VA system is not interoperable with. Please
tell me that I'm absolutely wrong.
Dr. DeSalvo. Senator, the DOD's acquisition of a new
electronic health record--you are correct--is one of the most
important things that's going to happen on the health IT
landscape, and we are intimately involved in that. The
Department of Defense, for example, has embedded staff with us
at ONC to see that we're communicating. The Department of
Defense has agreed to lead the way in pointing to the
standards.
The Senator asked me earlier what are the steps we should
take. If I could, just for a second----
Senator Cassidy. I only have 3\1/2\ minutes.
Dr. DeSalvo. One of the most important things is to move
away from proprietary standards, which is getting in the way of
the systems being able to----
Senator Cassidy. There are some open source bidders--Epic
is one of them. So is Cerner. They are not open source.
Correct?
Dr. DeSalvo. Those vendors will have to agree to use the
standards that the Department of Defense wants to use, which
are the ones that ONC has published. We are very pleased that
we're all moving in a direction to have a core set of standards
that everyone will agree to so that we don't run into a problem
where the system is not interoperable.
Senator Cassidy. So you're telling us that the VA will be
able to share records or that the local hospital will be able
to share records with the DOD?
Dr. DeSalvo. The VA and the DOD is a separate issue,
because they have a different kind of technology. Yes, sir, the
goal is that that becomes not only exchange, but
interoperability.
Senator Cassidy. Again, I talk to medical students all the
time, and I don't mean to offend. When you mention the goal, I
accept that it is a goal, but how likely is it to happen?
Because it seems like you left some wiggle room, that, indeed,
the VA has a different system and it may not yet communicate
with DOD.
Dr. DeSalvo. What the VA and the DOD have done now is they
have found a solution to exchange information. If you're at the
bedside with the patient, you can see the records from the VA
and DOD. So they've taken that first step.
The integrating of the data requires having the same core
data elements, so there's a technology issue, which is
solvable. There is also a policy and a culture issue, which,
honestly, is generally the harder one and what we're facing in
circumstances like information blocking which is one of the
things getting in the way of interoperability in the broader
community.
Senator Cassidy. You spoke of the open source, though. That
seems kind of, by definition, not to include information
blocking. Who is blocking the info?
Dr. DeSalvo. So information blocking can happen sometimes
from technology, but what we're seeing commonly is that the
vendor systems will charge----
Senator Cassidy. I accept that. We've had those hearings
about how the vendors are blocking. I'm going to take it back
to where we started. My fear is that the very vendors who are
blocking data are the ones bidding. Then you mentioned it's
going to be open source, but you returned to the fact that
there could be blocking. I guess I'm not clear.
Will the final $11 billion project be something that I, at
Our Lady of the Lake in Baton Rouge, can access data? Or will
there be a problem with vendor blocking?
Dr. DeSalvo. I would need the DOD to confirm the answer, if
you would. However, what I would share with you is that since
we described blocking and since we put out the report, the
vendors have begun to pull down the fees to make this problem
start to go away, and we have to keep putting on the pressure.
I do not think the work is done.
Senator Cassidy. I apologize, and I'm already over time. If
I can just ask one--no, I'm almost out of time. Is it part of
the initial RFP that they cannot block, and that the VA has to
be able to share, as does the community hospital? Let me ask it
that way.
Dr. DeSalvo. That is the intention of the DOD. Yes, that is
correct.
Senator Cassidy. It is the intention, but is it part of the
RFP?
Dr. DeSalvo. Yes. That's where they're going. That is what
I understand from our--what we have recommended as ONC to the
DOD. I would have to defer to the DOD.
Senator Cassidy. Can you? Because I sometimes find that
recommendations are not adopted. I find that commonly.
Dr. DeSalvo. We can certainly get back with you on that.
Senator Cassidy. Yes. I'm almost out of time. I yield back.
Dr. DeSalvo. Thank you.
The Chairman. Thank you, Senator Cassidy.
Senator Bennet.
Statement of Senator Bennet
Senator Bennet. Thank you, Mr. Chairman.
I thank the witnesses for your testimony. You're fortunate
to be on the cutting edge of all this stuff.
Dr. Shuren, as I know you know, there is a thriving
movement of innovation in molecular diagnostics underway,
thanks to the Human Genome Project and investment over the past
decade. There are a number of Colorado companies like Corgenix
and SomaLogic and Biodesix, which are developing remarkable new
advanced diagnostics in areas like Ebola, cardiovascular
disease, and lung cancer.
The FDA recently released a draft framework to regulate
lab-
developed tests. As I wrote in a letter to you a couple of
weeks ago, as always, we need to balance both innovation and
safety to ensure that we create a fair and workable process.
There's some concern that the draft framework could require the
FDA to register and approve thousands of labs or, at a minimum,
thousands of tests.
I just wonder if you could speak to this a little bit.
Given the size and scope of the issue, do you intend to propose
more formal regulations in this space? Are you open to
congressional action here? Would that be useful? How do we get
a handle on this and create predictability for the people that
are doing this work?
Dr. Shuren. Well, first, let me say that laboratory-
developed tests play an important role in our healthcare system
today, and our goal here is not shutting down laboratory-
developed tests, but, in fact, making sure that we are both
facilitating innovation and that those tests are accurate,
reliable, and clinically meaningful. Under our proposal, we
tried to strike that balance.
I don't know that we'll actually receive thousands of
tests, because what we've heard from the lab community is that
a lot of the tests they make are to address unmet needs. One of
the things we put out in our proposal is to say,
``Look, if you're making a true laboratory-developed
test, your healthcare facility, healthcare system, is
doing this and treating patients, and there isn't a
test out there like that that FDA has approved or
cleared, you don't come in the door for premarket
review. We'll address that unmet need.''
If, subsequently, someone has that test, and they send us
the data, and we look at it, and it turns out we know this test
works, then our expectation is other people who are making that
test should do the same, because we now have data that that
test, in fact, is accurate, reliable, and clinically
meaningful. I don't know that we will actually receive
thousands.
That said, we received a lot of comments on the proposal.
We're working on it, and we will be making changes before we
have the final policy.
Senator Bennet. If there is legislative work that needs to
be done around this, I hope you'll let the committee know. I'm
sure that you will.
I want to turn also to one other topic around innovation.
Dr. Collins mentioned earlier how important mobile technologies
have become. Really, in the blink of an eye, this is all
changing the way doctors practice medicine and patients monitor
their own well-being.
As you know, probably, Senator Hatch and I reintroduced the
Med Tech Act yesterday to ensure that lower-risk medical
software and mobile apps are not regulated by the FDA. I think
we share the same goals on this, and I want to thank your team
for giving us technical advice all the way through.
Can you talk a little bit about FDA's thinking in this
area?
Dr. Shuren. Well, first, let me thank you and Senator Hatch
and your staffs for the opportunity to work together on the Med
Tech Act. We agree--as we looked at this space, we were looking
at functions, device functions, that we had been regulating for
a long time, and now some of them are being put on mobile
platforms.
What we found as we looked at it is that some of these
lower risk functions we may better serve by no longer actively
regulating them and spur a little bit more innovation. They're
sufficiently low-risk. We don't need to provide that additional
FDA oversight. Instead, focus on higher-risk medical device
functions in this space, and that is kind of a nice balance on
that--facilitate innovation, but still assure good patient
safety.
Senator Bennet. Thank you.
I don't know, Dr. Collins, if you have anything you'd want
to add.
Dr. Collins. Well, only that your point about mobile health
technologies is extremely well-taken. The proliferation of
really exciting opportunities is happening all around us, and
we certainly see this Precision Medicine Initiative as a great
opportunity to test those out, because you not only want to
have an application that's kind of cool and gives you
interesting information, but you want to know does it actually
improve health and does it change outcomes.
If we have a million individuals who are excited about
participating in research, who are essentially volunteering to
become users of these kinds of technologies, whether it's the
next version of a watch that measures all kinds of aspects of
your body's physiology or something that's detecting in the air
around you what kind of exposures you're having, this would be
a great opportunity to find out what works, what actually
improves healthcare, and then what ought to then be
extrapolated and utilized across medical care for the whole
country.
Senator Bennet. Thank you.
Thank you, Mr. Chairman.
The Chairman. Thank you, Senator Bennet.
Senator Collins.
Statement of Senator Collins
Senator Collins. Thank you very much, Mr. Chairman.
Dr. Collins, just this morning, I met with some advocates
from Maine who are pushing for more research into brain cancers
such as glioblastoma. You mentioned in your written testimony
that oncology is the clear choice for enhancing the near-term
impact of precision medicine and that important advances have
already been made in this area. I very much look forward to
sharing your testimony with this group of people from Maine who
are concerned about such devastating brain cancers as
glioblastoma.
I'm wondering if you also see a role for precision medicine
in neurodegenerative diseases, like Alzheimer's, Parkinson's,
and ALS. Are investments in these important areas also being
considered as part of the Precision Medicine Initiative?
Dr. Collins. Thank you, Senator Collins, for the question.
Absolutely. We are learning that disorders like Parkinson's and
Alzheimer's and other neurodegenerative conditions do, in fact,
have multiple contributions to whether they happen or not to a
given individual.
For Alzheimer's disease, we now know of 35 individual
places in the genome where variations place an individual at
higher risk. We know about one or two where individual
variations actually are protective, which is an even more
potentially actionable finding, because you'd like to
understand that in order to develop the next generation of
preventive strategies for people who weren't so lucky as to
inherit that preventive kind of genetic variation.
There is, especially for any disease that is common enough
that you're going to have thousands of individuals in your 1-
million-strong cohort, an opportunity to study those at a scale
that has not previously been possible and to try to put
together all of the things we can learn about their genetic
inheritance using whole genome sequencing.
Also, their environmental exposures, also everything we can
learn about their electronic health record experience, also
using mobile health are the ways that we can come up with
better detection systems of early trouble in terms of cognitive
changes. That is very much an intention of this.
One of the exciting aspects of having this very large
cohort is that it doesn't have to be just about heart disease
or just about diabetes or just about Alzheimer's disease. It
can be about all of those things, because it will have the
scale to do so.
We have waited a long time to reach the point where the
technology would make that possible, and the time is now. We've
really reached a remarkable inflection point in the potential
of medical research, and we should not let this moment pass.
Senator Collins. I could not agree more. Truly, it's so
exciting.
Dr. DeSalvo, despite the Federal support that you mentioned
in your testimony, I continue to hear from smaller healthcare
providers about the barriers that they face with electronic
health record implementation. Just yesterday, I met with a
physician from Bangor, ME, who shared with me that putting in
place a comprehensive electronic data collection system for his
small practice was going to cost in excess of $230,000. This
was just for the software, not for the hardware. That's no
small amount, particularly for a smaller, independent practice
that is not hospital-owned.
To access information about individuals to improve
diagnoses, treatment, and prevention of diseases, you discussed
the important role, the absolutely essential role, of health
information technology and interoperability, including the
standards and technology that are going to be needed. As you
work to build these health IT systems for precision medicine,
how can we assure that we're not leaving out rural America,
smaller practices, rural hospitals, health clinics, because of
the cost?
Dr. DeSalvo. Senator Collins, thank you for the question
and for particularly spotlighting one of the challenges of
small practices and rural. As the Senator may be aware, that
was a particular focus that we had early on in the HITECH
funding. That was prior to me joining the Administration, but
that team really wanted to see that rural America was not left
behind, and there was great success, actually, in the adoption
in many of those communities across the country in partnership
with USDA, as an example.
They are facing now a challenge of upgrading technology,
and it is one of the reasons that last year, because of some
challenges they were having, we put out this flexibility rule
that gave them some more time to be able to advance. The cost
that you're describing for that physician sounds fairly
exorbitant, and I would be very happy to followup with your
staff and that physician to see if we can understand what is
happening there, and perhaps the regional extension centers
that are in your communities could followup.
You are exactly correct. It's critical that we get this.
It's critical that nobody is left behind and that we find a way
to make it successful for everyone.
Senator Collins. Thank you very much. I'm going to take you
up on that offer. Thank you.
Thank you, Mr. Chairman.
The Chairman. Thank you, Senator Collins.
Senator Warren.
Statement of Senator Warren
Senator Warren. Thank you, Mr. Chairman. The President's
Precision Medicine Initiative could be a big step forward for
more targeted and more effective therapies for any number of
conditions, and I think it's a great idea. We should have
started years ago.
Dr. Collins, you first advocated for a national genetic
study to examine how people's genes and environments contribute
to diseases over a decade ago, in 2004. Is that right?
Dr. Collins. In fact, that is exactly right, and it landed
with a thud at that point. That's actually the article up there
on the screen that I published in 2004. In retrospect, this was
probably a bit ahead of its time because we didn't have the
technology at the point where this would have been affordable
or practical. But it is now.
Senator Warren. I'm glad to hear that it is now, although
if we had started pushing and funding back then, we can only
wonder how much further we would be ahead right now. Congress
didn't make those investments, and, in fact, over the past
decade, NIH funding hasn't even kept pace with inflation. That
means we are years behind in doing this work.
If we are serious about speeding up biomedical innovation,
about improving health, about reducing long-term costs, we
start by investing in NIH. The House has a proposal called 21st
Century Cures that's supposed to accelerate biomedical
innovation. When it was first released by the Republicans a few
months ago, it didn't include a single dime of new NIH funding
for Congress.
Last week's new bipartisan draft of this bill very much
seems to be moving in the right direction. It has $2 billion in
new mandatory funding for the NIH every year for 5 years. I
applaud the House Republicans for acknowledging what so many of
us, including Newt Gingrich and the drug industry, have been
saying for years. NIH funding is critical to accelerating
cures.
Let's be clear. A few billion dollars in temporary funding
will not solve a decade of neglect, much less build the future
that we need.
Dr. Collins, in the late 1990s, Congress doubled the budget
of NIH, and then agency funding was left to shrink back down.
If Congress had never doubled the budget of NIH and had simply
kept pace with prior investments, where would the NIH budget be
today?
Dr. Collins. Well, Senator, I keep a graph in front of me
all the time about this very question, and I'll just put it up
on the screen, because this is a documentation of the problems
that we are now facing. What you're seeing on that screen
there--the yellow line is basically what NIH has had as far as
our purchasing power for research, so it's the appropriation,
but as adjusted by the effects of inflation.
The dotted green line is the trajectory that NIH was on
going back to 1970 until 1998 when we had that wonderful
doubling. Then we've been getting undoubled ever since. If you
follow the dotted green line, and we had stayed on that
smoother trajectory, we would be substantially higher, up in
the neighborhood of a little over $40 billion.
Senator Warren. Just to get back on track and to reverse
the damage of the last decade, NIH, if I'm reading this right,
would need more than $12 billion in just the first year, and
the House proposal doesn't even put that much in over the space
of 5 years. Let me just ask, based on what you've got here, in
your expert judgment, what's the annual rate of increase that
NIH needs to get back on track on its funding?
Dr. Collins. Well, first, let me say we were thrilled also
to see what's in the 21st Century Cures. The $2 billion a year
of mandatory gave a great jolt of excitement and some relief to
a community that's been really quite stressed over the past 12
years as we've been losing ground.
To get back on a stable trajectory that would result in a
healthy biomedical research ecosystem which our country has
depended on with great success over 50 years, I would estimate,
in my professional judgment, that we need to be in the space of
inflation plus 4 percent or 5 percent per year. That's pretty
much--that dotted line was inflation plus 3.7 percent, I guess.
That was a healthy way to be sure that all the talent and
capabilities of this country, in terms of biomedical research,
where we have led the world for decades, could be sustained,
encouraged, and innovation could go forth in all the ways that
we want it to.
Senator Warren. Well, thank you, Dr. Collins. Two billion
dollars a year for 5 years is certainly better than nothing.
Let's not pretend that a small, temporary investment that falls
billions of dollars short of what we're going to need will do
the job. There is a gaping hole in our NIH budget, and we need
a serious plan to fix it.
There are many ways to make that happen. I have a Medical
Innovation Act, for example, that could add another $6 billion
a year--wouldn't cost taxpayers a dime. But, whatever we do,
this committee has to get serious about medical innovation, and
that means we have to do better than the House proposal on
this.
Thank you, Mr. Chairman.
The Chairman. Thank you, Senator Warren.
Senator Whitehouse.
Statement of Senator Whitehouse
Senator Whitehouse. Thank you, Mr. Chairman.
Let me start by echoing the chairman's interest in having a
review of where we are on health information technology. I read
with interest the Wall Street Journal piece by, Dr. DeSalvo,
your predecessor, David Brailer, and it makes a lot of sense
and provides, I hope, some bipartisan foundation for us to work
forward.
I think that the meaningful use program has become obsolete
and needs to be tuned up to meet the new challenges that the
progress over the last years since it was passed now present to
us. Thank you for agreeing to work with the chairman and the
committee on the four or five key goals that we should be
achieving, and I would urge you to think big in accomplishing
that. Let's not twiddle around the edges. Let's get this right.
Dr. Collins, to followup a little bit on what Senator
Warren was saying, I'm interested in what you've been able to
document by way of consequences for failures to adequately fund
our scientific and medical research. It strikes me that you
could probably tell me that there's a return on investment from
the research that we do, and if we don't fund the research, we
lose that return on investment.
It strikes me also that you probably have examples of human
benefits from the scientific research which, if foregone,
become human costs. You probably also pay some attention to the
country's global competitiveness in this field.
Could you comment specifically in those three areas on what
you think is the payback for investment in scientific research,
or, if you want to put it contrarily, the cost of not funding
scientific research?
Dr. Collins. Well, I very much appreciate the opportunity
to talk about some of those consequences. I'll just put up
another graph which, in many ways, reveals the difficulties
that are present in this country, beginning back in 2003. What
I'm showing you there is the opportunity that an investigator
who comes to NIH with their best ideas has of actually getting
funded.
Most biomedical research done in this country in our
Nation's finest universities and institutes is supported by
NIH. This is the main place where this work gets done. For most
of our history, that has been in the space of 25 percent to 35
percent success rate, about one in three. That's not easy. That
means two-thirds of the people are sent away. Now it's about
one in six, and that's very unhealthy.
We have looked at what happened in the past when we could
fund up to 30 percent, and there's a lot of great science that
falls in that space between the 16th percentile and the 30th
percentile, and we're not funding that now. About half of what
we should be supporting by historical trends is left on the
table.
We don't know what we're missing in that regard. The next
great idea about cancer may have been one of those things that
didn't quite make the cut.
In terms of your question about medical consequences, I'm a
physician. The reason I love being at NIH and love what we do
is the hope that this is going to change things for the better
for people's health. Our track record there is striking in
terms of what's happened in terms of longevity and prevention
of disease. It is frustrating that we are going more slowly.
I promise you that the institute directors and I, when we
sit around the table and try to figure out what to do in these
constrained circumstances, we still prioritize, we still try to
push forward, but we're just going more slowly. We need more
advances in cancer. We need a universal influenza vaccine.
We're working on all those things, but we could be going faster
than we are right now.
In terms of the financial return on investment, that's been
documented over and over again. A dollar of NIH grant money
returns about $2.20 in the first year to the local economy
because of the goods and services that are generated as a
result. We support about 400,000 jobs directly across the
country in all 50 States on the basis of the grants that we
give out. Those are high-quality jobs.
You asked about global competitiveness. We were the
unquestioned leader of the world in biomedical research until
recently. That is no longer to be taken for granted. When you
see us losing ground, and we see countries like China and India
and Singapore and South Korea upping their investment sometimes
in double digits, we are losing that leadership.
Senator Whitehouse. A quick question on that. When they are
making those increases in investments, do they have an eye on
us as a target----
Dr. Collins. You bet.
Senator Whitehouse [continuing]. Or are they just doing
this in a sort of a general eleemosynary way?
Dr. Collins. Well, it's a little of both. They basically
read our playbook from 20 years ago, and they saw what it did
for America's economy and for the spinning off of small
businesses that come out of this effort, and they want to do
what we did. I don't know if you'd say they're gunning for us,
but they're basically trying to learn from our experience and
recreate that in their environment.
One statistic that particularly renders this very serious--
last year, China filed more patents in bioscience than the
United States did. That was not even a close competition a
couple of years ago, and they have now jumped ahead of us.
Those patents result in intellectual property claims that are
going to ultimately spin off new businesses. We have to take
that more seriously.
Senator Whitehouse. Thank you, Chairman.
The Chairman. Does that mean China will start respecting
patents more?
Dr. Collins. I'd better not comment on that.
Senator Whitehouse. Don't get the man in trouble.
[Laughter.]
The Chairman. Thank you, Senator Whitehouse.
Senator Baldwin.
Statement of Senator Baldwin
Senator Baldwin. Thank you, Mr. Chairman, and I very much
appreciate you and the Ranking Member holding this hearing,
giving us the opportunity to learn more about the
administration's Precision Medicine Initiative. We're excited
about it because of its lifesaving potential. We're excited
about it because of its breakthrough potential.
I'm excited about it, having the honor of representing a
State that's been a leader in setting the stage for some of the
things we're talking about today in precision medicine, from
the isolation of the first embryonic stem cells to the
discovery of short tandem repeat polymorphisms at Marshfield
Clinic, which is a major discovery that has had a big impact on
the study of human genetics. The clinic has since developed a
very significant genetic biobank, one of the larger ones with
information from over 20,000 central Wisconsin residents.
Dr. Collins, I know you've been asked sort of iterations of
this question before by my colleagues on the committee. If you
have more to add, I would like to hear more about how you will
utilize the existing data, like the data that I just described
that was collected by the Marshfield Clinic and real-world
clinical data. How will you use those and share those in new
ways to create personalized therapies?
Dr. Collins. That's a great question. Yes, Marshfield is a
wonderful leader in this enterprise. I visited there myself
several times, and Dr. Murray Brilliant, who's the person there
who's overseeing their large cohort, their precision medicine
effort, is somebody that we are all looking to for his
experience to share with us. He was at the White House when the
President announced this on January 30.
In this workshop we're going to hold at the end of this
month at Vanderbilt, we will really look hard at the ways in
which Marsh-
field, Mayo, Intermountain, Kaiser Permanente, Geisinger, and
perhaps the Million Veterans Project as well, could, in fact,
be assembled into a synthetic kind of cohort, not having to do
all of the work from scratch, but making the whole greater than
the sum of the parts, because this kind of initiative really
builds power by numbers, and that's one of the reasons we're so
excited about being able to say that word, million, which would
not have been in the vocabulary of most people planning these
things until fairly recently.
We want to take every kind of opportunity to build on the
experience that's already been obtained in places like
Marshfield. One of the things they've done, by the way, is they
found individuals who, by looking at their DNA sequence, ought
to be sick, but they're not.
Senator Baldwin. Right.
Dr. Collins. They have some kind resilience. Some people
call them genetic heroes. There's something about them that we
need to understand, because they have that resistance to
disease that we perhaps could learn more about and figure out
how to share with other people by development of new
therapeutics. That's just one kind of insight that they've got
a start on, but if you had a million people, you could find a
lot more.
Senator Baldwin. I want to followup on a discussion that
you were just having about the research workforce. You were
talking about funding and the reducing percentage of research
grant applications that are actually funded. I'm curious to
know what impact this initiative may have on the changing
nature of the research workforce.
It strikes me that there are doctors who happened on
discoveries of novel therapies in the course of treating
patients, but others may not know that their patients' unique
reaction to a treatment holds the potential for a breakthrough
in this field. What opportunities for new and nontraditional
researchers are presented through this initiative?
Dr. Collins. Oh, Senator, that's another great question,
and I'm glad you brought it up. This Precision Medicine
Initiative will not reach its full potential if it doesn't lure
and recruit all kinds of people from different disciplines to
get together to work on this. I think of a parallel here with
the Human Genome Project that I had the privilege of leading,
where it was such a historic opportunity that people who never
really thought of themselves as working in that space decided
to make it their passion.
The same can happen here. We would want to have
computational experts, because we have very large datasets.
This is the world of big data and the best way. We would want
to have technology developers of all sorts who can figure out
ways not only to look at your DNA sequence, but what about all
of those metabolites that are floating around in your system.
We can begin to look at hundreds of those in a given situation.
All the technologies we mentioned about mobile health--
there's still lots of opportunities there as well, and
physicians who can begin to figure out how do you take this
kind of data and implement that in a real world setting in
order to improve health outcomes.
You know, I have to say when I look at the way we practice
medicine today compared to when I was a resident in medicine in
1979 or 1980, it's not that different. We have such a long way
to go here in terms of really incorporating all the new
technologies that are coming along.
This is going to be a wonderful laboratory for all kinds of
people to get involved in and figure out what kind of
discoveries can be made and what use we can put them to. I hope
it's going to be filled with that kind of innovative talent.
Senator Baldwin. I appreciate that.
Mr. Chairman, with your indulgence, one quick question.
Dr. Shuren, you can answer this for the record. There's
incredible potential in what we're talking about. It also
strikes me that there's incredible potential for fraud, for
folks, as this develops, offering and selling fraudulent
interventions that claim to be personalized medicine. I would
like--and, again, it can be after this hearing--to hear from
you more about how the FDA will work to prevent fraud and
ensure patient safety in the age of precision medicine.
Dr. Shuren. I'll take a quick moment, if it's OK, just to
say----
The Chairman. Sure. Senator Murray and I would like to know
the answer, too.
Dr. Shuren. All right. Well, thinking even just beyond
fraud, the whole point of having a test out there that really
doesn't work and it's being sold--this is one of the impetuses
in terms of our now deciding to actively regulate that subset
of in vitro diagnostics laboratory-developed tests, because
there are some great tests out there, but there are some bad
tests out there.
Let me give you an example of one that's in the precision
medicine space--and there are several--something called KIF6,
and it's used for predicting people--for people having coronary
heart disease and their response to statin treatment. This is a
test where we had seen data on it. We saw the test didn't work.
Laboratory-developed tests--they're selling it.
There was a med analysis of 19 clinical studies. The test
doesn't work. Then they performed a randomized placebo control
trial on over 18,000 patients. The test doesn't work. When this
was reported out around 2010, at that point, over 150,000
people got that test. We estimate the cost to the healthcare
system may have been upwards of $2.4 billion, and that test is
still available today.
That doesn't serve patients well, and it doesn't serve
precision medicine, because it undermines our efforts to make
sure that we get accurate and reliable clinically meaningful
tests out there, and we get the right treatment to the right
patient.
The Chairman. Thank you, Senator Baldwin.
Senator Murray, do you have any further remarks?
Senator Murray. How are consumers supposed to know that?
Dr. Shuren. Right now, they can't. They don't--because you
don't have that oversight for some of these tests to know if
they are, in fact----
Senator Murray. Does FDA not have oversight for this?
Dr. Shuren. We do have the authority, and what we proposed
is it's time for us to exercise it. Years ago, when we set up
the program, laboratory-developed tests tended to be very
simple. They were used locally for often rare conditions. In
setting up the program, we said we would exercise what we call
enforcement discretion. You are subject to our requirements.
We're not enforcing them.
Over time, particularly without our being there, these
tests have become increasingly more complex. They're being used
nationally. They've become increasingly more important and
being relied on for healthcare decisions. As a result of that
and our seeing some of the bad tests out there is why we moved
forward to regulate them.
I've got to tell you, this question has come up since the
1990s. We had NIH back then and the Department of Energy saying
the FDA needs to get involved. The Institute of Medicine came
out in the 2000s to say that--two advisory committees to the
Secretary of Health and Human Services. We've been trying to
move forward.
In 2007, we put out a guidance to say we'll start
regulating a subset, and what we heard from the lab community
was, ``Don't pick away, don't chip away at this. Put out an
overarching framework, make it risk-based, and phase in
implementation.''
We held a public meeting in 2010. We got that input, and
the guidances we put out, the framework we proposed late last
year, was our attempt to do that, to have a risk-based program,
to try to balance innovation with patient safety and phase it
in over a period of time. Right now, we're addressing comments.
We're still working with the community on what that right
policy should be, and then come up with a final----
Senator Murray. So you're engaging providers and patient
groups as you work through that?
Dr. Shuren. Yes. We've gotten a lot of feedback on it. An
example is the American Cancer Society has said they have seen
tests where they're incorrect. Patients are getting diagnosed
with cancer when they don't have it, and people who have cancer
are getting told they don't have cancer. They've said, too,
that we need better oversight here. We need to make sure we
have accurate tests and the tests do what they claim to do.
Senator Murray. Important question. I just have one more
question.
Dr. Collins, why is 1 million the right number?
Dr. Collins. Well, that's a great question. There's nothing
magic about 1 million except it's a nice round number that we
could aim for. I actually will admit that I would love it if we
could go beyond that. As I said a minute ago in the
conversation with Senator Baldwin, this is all about numbers.
That's where you get the power of the analysis to find out what
works.
A million is very ambitious. It seemed like a goal we could
set for ourselves to try to achieve. Given the fact that we
already know there are cohorts out there which collectively
have enrolled more than a million people, if we can figure out
how to do this, maybe we'll do better than that.
Senator Murray. Well, just listening to the committee
members that you've been talking to over the last few weeks,
every one of our States apparently has some--we have Fred Hutch
in my State that is developing a database.
Dr. Collins. Yes.
Senator Murray. I don't know how you're going to work
through all of this to get your cohort. Again, diversity,
making sure that we represent everybody is really important.
I'm going to look forward to hearing how you do that.
Dr. Collins. I totally agree with you on that, because if
we just tack together the existing cohorts, I don't think we
would have the kind of representation that we need of the
country.
Senator Murray. Thank you.
Thank you, Mr. Chairman.
The Chairman. Dr. Shuren, following up Senator Baldwin and
Senator Murray, this was the high-risk, low-risk difference you
were talking about in these laboratory tests. You're focusing
your attention on the higher risk areas. Is that right?
Dr. Shuren. Well, the high-risk, low-risk we were talking
about earlier was on mobile technologies. We try to put a focus
on--when we implement this, try to focus first on the higher
risk tests as we phase that in.
The Chairman. Oh, I see, as you phase it in.
Dr. Shuren. As we phase that in.
The Chairman. Is any of your enforcement--is it all prior
approval, or is it where you might be acting on a complaint? In
other words, to let the marketplace run for a while on the
lower risk items and police it, in effect.
Dr. Shuren. For the lower risk tests, we would not enforce
requirements on them, other than tell us what you are, and if
there are problems reported--we also wouldn't enforce
requirements on tests for rare disorders and, again, some of
these tests for unmet needs as well.
The Chairman. Well, this has been very useful. As I said to
Senator Murray, this is kind of like going back to college.
It's actually very interesting, and we're very privileged to be
students in a classroom with such distinguished teachers and
witnesses on a subject that's so important and one that the
President, the House of Representatives, and this committee all
are committed to work on.
It is my hope--and Senator Murray and I will work out
exactly how we will do this, but it is my hope that we can
finish our work on our innovation initiative this year and
report it to the full Senate early next year so it can be acted
on, or some schedule like that. We've got some other things we
have to do as well. The precision medicine proposal by the
President would be incorporated within that, so it'll be a part
of all of it.
We didn't talk about privacy today. Who's going to figure
that out?
Dr. Collins. A very important question. ONC and NIH and the
White House OSTP have been engaged in this. We will have a deep
conversation about this July 1st and 2d with the participants
at the workshop that's coming forward at that point.
The Chairman. Well, what we're talking about--if you're
going to have a million participants or more, and you use all
their data, you've got to figure out some way to protect that.
Dr. Collins. To protect that, yes. We are deeply serious
about doing that in the most high-tech, thoughtful, capable
way, again, with a fair amount of experience to build on. We
have to take that with great seriousness.
The Chairman. Dr. DeSalvo, you heard from a variety of
Senators in regards to our interest in helping you figure out
what the steps are to actually improve the electronic medical
records system, to get to see some real results, coordinate
properly with whatever the Defense Department is doing. There's
a lot of work to do there.
We're not trying to catch anybody here. We're just trying
to fix a problem, and we'd like to work with you to do that and
to do it soon, because it affects many, many physicians, many,
many hospitals, and as we've heard today in a couple of
important ways, it's absolutely essential to the Precision
Medicine Initiative.
If there's no other--I've got a final page I'm supposed to
read. The hearing record will remain open for 10 days. Members
may submit additional information for the record within that
time if they would like.
I want to thank Senator Murray again for the way she has
conducted--helped us do this in a bipartisan way. We learn a
lot more that way.
The next HELP hearing will be tomorrow on higher education.
The committee will stand adjourned.
Additional Material follows.]
ADDITIONAL MATERIAL
Prepared Statement of Senator Klobuchar
Chairman Alexander and Ranking Member Murray, thank you for
holding this important hearing today exploring how precision
medicine can improve care for patients. I would also like to
thank Dr. Collins, Dr. DeSalvo, and Dr. Shuren for being here
to offer their views. Your agencies will be at the forefront of
our Nation's work on precision medicine. I feel confident in
the future of precision medicine with you three at the helm.
Without a doubt, doctors have always aimed to treat the
individual patient, not the disease. Our medical technology
might finally be catching up with our intentions as medical
innovation hones in on the level of the individual patient
through precision medicine.
In 2003, the National Institutes of Health and their
international partners completed the mapping of the human
genome--a scientific achievement equivalent to landing on the
moon. The Human Genome Project jump-started the field of
medical genomics and opened up new opportunities to improve how
we care for patients.
We have already seen the extraordinary results that
precision medicine--health care tailored to a person's genes,
environment and lifestyle--can have, for example, in a
breakthrough drug to treat cystic fibrosis.
Great work in the field of precision medicine is already
being done in research centers around the country, including at
the Mayo Clinic in Rochester, MN. I had the opportunity to see
this work first hand when I visited Mayo's Center for
Individualized Medicine. One great project is Mayo's BEAUTY
study, which is working to understand why chemotherapy treats
breast cancer in some women but fails in others. In addition,
Mayo has a robust biobank with almost 50,000 samples that
researchers can use to solve the mystery of a host of diseases.
The United States should remain on the cutting edge of
health care innovation. Today we have the opportunity to build
on the success of the Human Genome Project and lead the global
effort to encourage scientific discovery and clinical
implementation of precision medicine. To accomplish those
goals, we need strong leadership from the Administration,
continued investment in research, and the proper regulatory
framework to encourage innovation.
With precision medicine, the health care of our future is
closer than ever before. It will transform the way doctors
provide care, making our health care system more efficient by
providing improved, targeted treatments. Precision medicine is
just beginning to show its promise, and it offers opportunities
not just for patients in need of better treatments, but for the
future of medicine as well. I know the committee and the
Administration share the goal of supporting precision medicine,
and that is why you are here today. I look forward to working
with you toward accomplishing these shared goals.
[Whereupon, at 4:21 p.m., the hearing was adjourned.]
[all]