Director’s Report (September 2015) – Eric Green


Eric Green:
Thank you, Rudy. Let me reiterate something Rudy said is that, again, that we are in open
session. We are video casting this open session live and we’re also videotaping it and making
this part of our permanent resource of the Institute proceedings. That includes both
the videotapes, but also many of the documents that are going to be discussed and presentations
that are going to be shown during Council. Now, we do have some new folks here including
some ad hoc members of council that are joining us for the first time. So if you’re new
to our council meetings I just want to make you aware of this electronic resource that’s
associated with my Directors Report. This is sort of analogous to a supplemental materials
of a publication and they can be accessed through the URL shown on the slide. Now, the
slides that I’m going to show in my Director’s Report are also available electronically at
the site, both as a PDF file and also as the actual PowerPoint file itself. And then for
slides that are associated with specific documents or relevant web pages there’s a document
number in the bottom right corner of each slide, which references material that can
be accessed and downloaded at the website I am showing here. And actually, it was a
crazy week last week, there are several cases you’ll see during Director’s Report where
it was late-breaking news, and I have a little late-breaking news icon because we couldn’t
even get it into a document number yet because it was so late-breaking. So you can watch
for that for the first time I’m using that. And then in addition to the video archive,
this webpage — all the link documents are archived on the Institute’s website, www.genome.gov,
as a permanent historical record of this meeting. So, other things that’s going to happen
during the open session include some presentations that will augment what I’m going to cover
in my Director’s Report. In fact, I will not discuss in detail the topics that others
are going to present. So, after my Director’s Report Dr. Lisa Parker [spelled phonetically]
is going to present a report from the Genomics and Society Working Group of this council.
And then Dr. Teri Manolio will then present a report on the recent workshop on research
directions and Stevens-Johnson Syndrome, Toxic Epidermal Necrolysis. And then after the lunch
break we will once again hear from Teri Manolio, who will then present an update on the Genomic
Medicine Working Group of this council. And then also report from the recent Genomic Medicine
Eight meeting. And then the last presentation of the open session will be given by a guest,
Dr. Joe Selby of the Patient Centered Outcomes Research Institute. Joe will be talking about
the complementarity of comparative effectiveness research and precision medicine. We look forward
to his presentation. So, this is the outline of my Director’s
Report. These seven areas I will now cover one by one as I’ve done in the past, starting
with a general update about NHGRI. Well, NHGRI lost one of its longest serving employees
former NHGRI Extramural Program director, Elizabeth Thomson, passed away this past July.
From an early career in nursing Elizabeth moved into genetic counseling and then founded
the International Society of Nurses in Genetics. During her time at NHGRI, which began in 1991,
she championed our Ethical Legal and Social Implications, or ELSI, Research Program and
became a valued resource for the genomics community. She was the driving force behind
many ELSI Research Program initiatives from the successful and influential Cystic Fibrosis
and Cancer Genetics Studies Research consortia of the 1990’s through the current Centers
of Excellence and ELSI Researcher Seer Program. She’ll remembered most for her passionate
support and generosity as a mentor to trainees and young investigators, and we will greatly
miss her. After four years serving as the Chief of the
Policy and Program Analysis branch within the division of Policy Communications and
Education, Dr. Derek Scholes left NHGRI in May to become Vice President for Public Policy
and Government Affairs at the Cystic Fibrosis Foundation. While at NHGRI Derek focused much
of his energy on building relationships with congressional staff and was an outstanding
mentor for the Four American Society of Human Genetics (ASHG) NHGRI Public Policy fellows
that came through the institute during his 10-year. We thank Derek for his contributions
and wish him the best with the Cystic Fibrosis Foundation. Meanwhile, Dr. Laura Rodriguez
is currently serving as the Acting Chief of this branch while we conduct a search for
Dr. Scholes’ replacement. And as you heard Rudy introduced among the many people new
to the Institute I wanted to say a little bit more about another important leadership
position within the Division of Policy Communications and Education, and that’s Dr. John Ohab
who very recently joined our institute as Chief of the Communications and Public Liaison
branch. As you heard, prior to coming to the Institute, John played major leadership roles
in the Strategic Communications Program for the Department of Defense, industry start-ups,
and most recently the Naval Research Laboratory where he served as Head of Communications
and Social Media. In his most recent position he led the development of new comprehensive
communications strategy, including a re-branding effort in the development of an extensive
social media plan. NHGRI is excited to have John take the reins of our important and very
well-respected communications program. I would certainly like to thank Jeannine Mjoseth
for serving as Acting Chief of the branch for the last 16 months. She and the entire
branch successfully maintained momentum during this period and have continued to find new
and innovative ways to capture the attention of NHGRI’s audience through our website,
through media relations and also through video. Jeannine will continue to serve as the branch’s
Deputy Chief. NHGRI’s Division of Policy Communications
and Education partners with the American Society of Human Genetics in sponsoring two fellowships.
The well-established Genetics and Public Policy Fellowship and the recently launched Genetics
and Education Fellowship. This year’s Genetics and Public Policy Fellow is Caroline Young.
Ms. Young attended Canyon College where she majored in biology and minored in classics,
after which she earned a master’s degree in the Johns Hopkins NHGRI Genetic Counseling
and Training Program, just graduating this past spring. Now, this will be the second
year for the ASHG/NHGRI Genetics and Education Fellowship. And I’m pleased to report that
Julie Nadel will be this year’s Fellow. Julie just completed her doctoral studies
in genetics at Albert Einstein College of Medicine. Prior to her graduate work she earned
a B.S. in life science and neuro-psychology from Penn State University and we’re looking
forward to working with Caroline and Julie as our new Fellows. Resulting from the collective effort of literally
numerous staff members, NHGRI recently published its first ever general brochure about the
Institute. Designed for a broad audience, the new brochure features NHGRI’s history,
organization, core values, and research portfolio. The latter involves highlighting key institute
programs across the four major scientific areas depicted here, Genome Structure and
Function, Genomics and Human Disease, Genomic Medicine and Genomics and Society. Those interested
in a PDF version of new NHGRI brochure can be easily downloaded it from our website,
www.genome.gov. And printed copies are readily available as well on request. Now, the NIH Genomic Data Sharing Policy was
released a little over a year ago in August of 2014. Now, before the policy’s release
NHGRI has been preparing to implement the policy at our institute. This month we opened
a series of pages on our website, www.genome.gov, that provide information for extramural and
intramural researchers about NHGRI’s specific implementation of the NIH-wide policy. We
also announced on our website two areas in which NHGRI’s expectations for genomic data
sharing will go beyond the minimal — the minimum expectations established by the NIH
Genomic Data Sharing Policy. Now, first, while the NIH policy specifies different data submission
and release timelines for human and non-human genomic DNA — or genomic data — NHGRI plans
to harmonize these timelines for our funded research. Projects proposed on or after January
25, 2016, NHGRI will expect non-human genomic data to be submitted and released according
to the same timelines as human genomic data. Second, supporting the NIH Genomic Data Sharing
Policy’s expectation for explicit consent for future research use and broad data sharing,
NHGRI will require that by January 25, 2020, all human genomic data used in any [unintelligible]
funded or supported research will be generated from specimens or cell lines obtained with
explicit consent for future research use and broad data sharing. Exceptions to this expectation
will continue to be granted when there is a compelling scientific reason as allowed
under the general NIH Genomic Data Sharing Policy. NHGRI has established a Genomics and Health
Disparities lecture series to enhance opportunities for dialog about the role that genomics and
ELSI research can have in addressing health disparities and inequities. Topics will range
from basic science to translational and ELSI research. The lecture series is being co-sponsored
by the NHGRI, by the National Heart, Lung, and Blood Institute, by the National Institute
of Diabetes and Digestive and Kidney Diseases and the National Institute on Minority Health
and Health Disparities, and also by the Office of Minority Health at the Food and Drug Administration.
The inaugural lecture in this series was held this past May with council member, Dr. Carlos
Bustamante, presenting a talk entitled “Opportunities and Challenges for Health Disparities Research
In the Personal Genomic Era.” Thank you, Carlos, for doing that. NHGRI and our co-sponsors
are currently planning additional lectures for the upcoming year. Now, last week NHGRI held a round table, actually
in just the building adjacent to this one, on the inclusion and engagement of under-represented
populations in genomics research. This gathering sought to bring together genomic science and
health disparities researchers to discuss strategies to increase the participation of
under-represented populations in genomics research. The goals of the round table included:
One, examining the scientific challenges that arise due to a lack of ancestral diversity
in genomic studies, including the difficulty of enabling genomic science and medicine to
benefit all populations. Second, identifying barriers to increasing the number of research
participants from diverse ancestral populations in genomics research and strategies to overcome
these barriers. And third, defining genomic science and ethical, legal, and social implications
research opportunities to address health disparities and inequalities. And the report from this
round table will be presented at the February 2016 council meeting. So, moving on to some general NIH updates.
So, Dr. Alan Guttmacher recently announced that he will retire from being Director of
the Eunice Kennedy Shriver National Institute of Child Health and Health Development — and
Human Development, NICHD — in October. Of course Alan came to NHGRI originally in 1999
and was appointed as the Institute’s Deputy Director a few years later. He also served
as the NHGRI Acting Director before I stepped into this position. And just when I became
NHGRI Director, Alan was asked to serve as NICHD’s Acting Director and was later appointed
its director. He’s done a terrific job in this capacity for the past five years. In
working with Alan we’ve benefited from numerous interactions with NICHD, including launching
the Newborn Sequencing in Genomic Medicine and Public Health, or NSIGHT program, and
his scientific leadership has been invaluable to NHGRI and NICHD, and I think we all wish
Alan all the best in his retirement. Meanwhile, Dr. Catherine Spong, who’s currently the
NICHD Deputy Director will serve as the Institute’s Acting Director while a search for its next
permanent director is conducted. Another institute director transition, Dr.
Walter Koroshetz has been named the Director of the National Institute of Neurological
Disorders and Stroke NINDS. He served as the NINDS acting Director since October 2014.
Water came to the NIH in 2007 as the NINDS Deputy Director, and among as many accomplishments
he had a significant role in the creation of StrokeNet, a national clinical trial network
for research and stroke treatment prevention and recovery. He was also co-founder of the
NIH Uniform Services Center for Neuroscience and Regenerative Medicine and we look forward
to working with Walter in his new capacity. Similarly, Dr. Bill Riley was recently appointed
director of the NIH Office of Behavioral and Social Sciences Research and Associate Director
of NIH for Behavioral and Social Sciences. Before his current NIH appointment, Bill served
as a Health Scientist Administrator and Deputy Director of the Division of AIDS and Health
Behavioral Research at the National Institute of Mental Health. He was also prior to that
a program director at the National Heart, Lung and Blood Institute and also Chief of
the Science of Research and Technology branch at the Division of Cancer Control and Population
Sciences at the National Cancer Institute. Another new leadership position, Dr. Petra
Kaufmann has been named the Director of the Office of Rare Diseases Research, which now
resides within the National Center for Advancing Translational Sciences NCATS. This new role
will be in addition to Petra’s current role as Director of the NCATS Division of Clinical
Innovation. Now, as a Director of the Office of Rare Disease Research, Petra will actively
oversee the Rare Diseases Clinical Network, the Global Rare Diseases Patient Registry
Data Repository, and the Genetic and Rare Diseases Information Center, a long time collaboration
between this office and NHGRI. Dr. Robert Eisinger has been appointed the
Acting Director of the NIH Office of AIDS Research while a search for a permanent Director
is conducted. As I mentioned at the May council meeting, Dr. Jack Whitescarver stepped down
from the directorship of this office in July. Another departure from NIH, Dr. Sally Rockey
has departed the NIH and her position as the Director of the NIH Office of Extramural Research
and also as Deputy Director of NIH for Extramural Research to become the Director of the Foundation
for Food and Agricultural Research. Among her many accomplishments, Sally manages a
successful implementation of the American Recovery and Reinvestment Act at NIH, led
the focus on the biomedical research work force and greatly enhanced NIH’s partnership
and dialogue with the extramural research community. Dr. Larry Tabak, NIH Deputy Director,
has agreed to take on the role of acting Director of the NIH Office of Extramural Research while
the search for a permanent Director is conducted. And then, in some breaking news from last
week, Dr. Tom Insel just announced that he’ll be departing as Director of the National Institute
of Mental Health NIMH on November 1st. Tom is a great friend and colleague of NHGRI’s
and he has served as the NIMH Director for 13 years. Now Tom was initially at NIMH from
1980 to 1994 within the Institutes Intramural Research Program and then returned as its
director in 2002. As NIMH Director he nurtured numerous major initiatives, actually too many
to possibly mention here, but his leadership has also been central to many trans-NIH and
major federal efforts, including chairing the Interagency Autism Coordinating Committee,
co-chairing the Blueprint for Neuroscience Research, co-chairing the NIH Brain Research
Through Advancing Innovative Neurotechnologies, or BRAIN Initiative, and co-leading the Common
Fund efforts in Molecular Libraries, Single Cell Biology and Genotype-Tissue Expression
GTEx Program along with us. When he departs NIH, Tom will join the Google Life Sciences
Team at Alphabet to lead a new effort that will focus on mental health. While a national search for a new NIMH Director
is conducted, Dr. Bruce Cuthbert, will serve as the Institute’s Acting Director. Bruce
has held a number of leadership positions at NIMH including Director of the Division
of Adult Translational Research and Director of the Research Domain Criteria Unit. And in another piece of breaking news last
week, Dr. Rob Califf has been nominated by President Obama to take on the role of Commissioner
of the U.S. Food and Drug Administration. Upon Senate confirmation Dr. Califf will take
over for current acting FDA Commissioner, Dr. Stephen Ostroff, who has been serving
in that position since Dr. Peggy Hamburg departed in March. Now, Rob will inherit the Agency
along with a number of important current initiatives, including his overhaul of the regulation of
electronic cigarettes, bio-similar drugs and food safety. A well-known figure in medicine
as a cardiologist researcher and a professor at Duke University, Rob has been associated
with the FDA since February, when he became the Deputy Commissioner for Medical Products
and Tobacco. Now related to an important NIH leadership
position, you may recall that over the last year I co-chaired a working group of the Advisory
Committee to the NIH director that was asked to articulate a renewed vision for the National
Library of Medicine or NLM. Now, this working group was constituted following the retirement
of NLM’s longstanding director, Dr. Don Lindberg, but prior to the recruitment of
a new director for NLM. Now, the working group was charged with reviewing the Mission Organization
and Programmatic Priorities of the NLM and articulating a strategic vision for NLM, in
order to ensure its continued leadership in biomedical and health information. Now, the
working group presented its final reports for consideration at the June meeting of the
Advisory Committee to the NIH Director where it was unanimously approved by the Committee
and accepted by Francis Collins, the NIH Director. Of note, the report describes the vision for
NLM as a unifying force in biomedicine that promotes and accelerates knowledge generation
dissemination and understanding in the U.S. and internationally. It also calls for the
NLM to be the intellectual and programmatic epicenter for data science at NIH. Now, following his acceptance of the report,
Dr. Francis Collins immediately launched a search for the next NLM Director, asking me
and Dr. Jon Lorsch, Director of the National Institute for General Medical Sciences to
co-chair the search committee. Now, that search is active with the first evaluation of applications
to take place shortly after the initial application deadline of October 21st, and anyone interested
in applying for this important NIH leadership position which has, I think, important interactions
and future interactions with NHGRI, should really feel free to contact me directly. Now, as part of the fiscal year 2015 Cromnibus
appropriation enacted last December, Congress included language requesting that NIH submit
“an NIH-wide five year strategic plan no later than one year after enactment.” Now,
additionally, the 21st Century Cures Act, which is the bill that is currently pending
in Congress and hopefully will pass sometime in the coming year, also includes language
that instructs NIH to maintain a five year biomedical research strategic plan, which
includes identifying strategic focus areas that would consider researchers’ return
on investment. Well, with such congressional requirement, it means NIH is now busy working
to develop a new strategic plan to span the work of the entire agency aiming to meet the
deadline of having such a [unintelligible] plan completed by December. Specifically,
NIH is developing a living document to help guide the agency in fulfilling its mission
over the next five years. Now the plan is intended to articulate the highest priorities
across the NIH Research Portfolio highlighting how NIH will achieve these priorities. It’s
not intended to describe all the many important things that NIH does and will do in the future,
nor to address priorities of specific institutes and centers, especially since many of those
institutes and centers have their own strategic plans that will be referenced in the Executive
Summary of the broader NIH plan. Now, the framework for the new NIH Strategic
Plan is organized into three sections; an overview, areas of opportunity, and unifying
principles. Each section includes broad [unintelligible] opportunities and priorities. This framework
was designed by NIH leadership including input from the advisory committee to the NIH Director
and based on this frame work, the strategic plan is being developed through a working
group of institutes and center representatives. Now, a more complete set of slides with further
details about this strategic planning process and its frame work is available actually as
Document 15 with my Director’s Report. We didn’t want to show — go through — all
those slides, but if you’re interested in drilling deeper into what is going on with
this NIH-wide strategic planning effort I’d refer you to that slide set associate with
Document 15. And this summer — this past summer — public input regarding the frame
work was collected through a request for information, which received 460 responses. The webinars
were also held in August with over 700 participants, and the strategic plan will be presented to
the advisory committee to the NIH Director in early December and then delivered to Congress
by mid December. NIH continues its efforts to enhance rigor
and reproducibility in scientific research. The main goal is to clarify NIH’s longstanding
expectations regarding rigor and transparency and how we would like to see this described
in grant applications. Now, recently NIH notified the research community of plans to incorporate
rigor and transparency in grant applications and review through the issuance of two guide
notices. So, the first notice, which is called “Enhancing Reproducibility through Rigor
and Transparency” provides information to clarify NIH expectations in four areas covered
in grant applications; scientific premise, rigorous experimental design, consideration
of relevant biological variables such as sex, and authentication of key biological and/or
chemical resources. Now, the second notice provides additional information regarding
the consideration of sex as a biological variable in NIH funded research. Now, pending approval
by the office of management and budget, the policy will go into effect for applications
due January 25, 2016 and beyond. Instructions for applicants will be available this coming
fall. Moving on to legislation, the 21st Century
Cures Bill, HR6, was passed by the House of Representatives on July 10. In very general
terms, the bill boosts NIH research and reforms FDA’s regulatory framework so as to accelerate
the discovery development delivery of cures. Now, more specifically the bill authorizes
4 percent annual increases in the NIH budget for fiscal years 2016 to 2018 and establishes
an NIH and cures innovation fund, which would provide an additional $1.86 billion annually
to NIH for fiscal years 2016 to 2020. Now, as I mentioned earlier the Bill would also
require the NIH to create five-year strategic research plans. Now the House Bill also identifies
several strategic focus areas for research. These include biomarkers, precision medicine,
infectious diseases and antibiotics. Finally, each NIH institute and center would be mandated
to spend a percentage of its budget on high risk/high reward research. And this percentage
would be determined by the NIH Director. Now, meanwhile, the Senate has been developing
its own vision for biomedical research reform and stimulation referring to it as Innovations
Bill, but a draft has not yet been released. Therefore, any proposals to alter the NIH
budget or proposals for regulatory reform are subject to change. So, in summary there’s
both excitement and uncertainty with respect to the potential of a major NIH enhancing
bill becoming law and we’re obviously following these developments very carefully, especially
as we approach the end of this fiscal year and the beginning of next fiscal year. Which
nicely brings me to my next slide looking ahead to fiscal year 2016 in the budget. While the summer months have not seen the
ideal Federal Budget process progress, it is expected that in a continuing resolution
will be necessary to fund the government into the next fiscal year. As shown here, the House
Labor HHS appropriations sub-committee has approved a funding bill that includes a 3.3
percent increase for NIH and a 3.4 percent increase for NHGRI. The Center’s counterpart
has approved a 6 percent increase for NIH and a 4.4 percent increase for NHGRI. These
increases would be significantly larger than the previous fiscal year and others that we
have seen in recent budget cycles. However, neither chambers’ Full Appropriations Committee
has yet taken up these bills. And, as you know, if Congress does not pass a budget or
a continuing resolution by October 1, the government will shut down. Meanwhile, the
President’s budget request as well as the current House and Senate bills contain a little
over $200 million of new funds for the precision medicine initiative, which I’ll be discussing
in greater detail later in my director’s report. While, in May Senator’s Richard Durbin and
Lindsey Graham held an event to announce a new Congressional NIH caucus. The goal of
this caucus is to increase the purchasing power that NIH has lost in the last several
years and provide steady predictable growth for biomedical research in the future. In
addition, caucus members hope to shine a light on what the NIH does, informing the American
taxpayer that NIH represents a great return on investment. The Senate caucus consists
of a bipartisan group of 23 Senators and is co-chaired by Senators Durbin and Graham.
The House caucus consists of a bipartisan group of 17 representatives and is co-chaired
by representatives Higgins, King and DeLauro. So, moving away from politics maybe and back
into genomics. Starting with some sad news that NHGRI grantee, friend and colleague,
Dr. Bill Gelbart, passed away in August. Bill was professor of molecular and cellular biology
at Harvard University and was a principal investigator of FlyBase since 1991. His laboratory
focused on understanding the molecular basis of pattern formation in higher animals. Bill
also served as a member of this group, the National Advisory Council for Human Genome
Research, and was a long standing member and most recently the chair of the NHGRI Sequencing
Advisory Panel. He was a prototypic colleague of the Institute, a well respected member
of genomics community. He was a true friend, a collaborator, a mentor to many of us here
at NHGRI and I will just tell you he will be greatly missed. I’m also saddened to report that Dr. Eric
Davidson passed away earlier this month. Eric was a longtime professor of cell biology at
Cal Tech, who greatly contributed to our understanding of the genomics of gene regulation and the
importance of gene regulatory networks. He led the effort with others to derive the complete
genome sequence of the purple sea urchin and was a key participant in a number of important
NHGRI meetings and planning sessions over the years. Especially those related to comparative
genomics. In happier news, in terms of highlights about
major figures in the genomics community and good NHGRI colleagues, former council member,
Dr. Jill Mesirov has been appointed Associate Vice Chancellor for Computation Health Sciences
and Professor of Medicine at the University of California San Diego school of medicine
and Moores Cancer Center. And at this council table, just two weeks
ago it was announced that council member, Dr. Carlos Bustamante, has been appointed
the inaugural chair of the Stanford Department of Biomedical Data Science. Congratulations,
Carlos. And finally, a number of genomicists are among
the 26 scientists selected as new investigators of the Howard Hughes Medical Institute HHMI.
These include Drs. Joe Decker [spelled phonetically], Levi Garraway, Parta Zeveti [spelled phonetically]
and Council Member Jay Shendure. Congratulations, Jay. In July, the American Society of Human Genetics
ASHG released an updated report on the ethical, legal and the psychosocial implications of
genetic testing in children and adolescents. Now this report was a follow up to ASHG’s
previous 1995’s position statement about this area. But this new statement was developed
in light of the rapid advances in genomic technologies over the last 20 years. The report
provides recommendations on numerous issues related to genetic testing, including predictive
testing, return of secondary findings, and professional education. And then, just last
week, ASHG released a statement of support for state licensure of certified genetic counselors
to help ensure that the public has access to the provision of genetic and genomic services
by qualified health professionals. The licensing of genetic counselors also enables many hospitals
to approve billing and reimbursement for counseling services. Fifteen states currently issue such
licenses and ASHG statement encourages the remaining states to move forward in a similar
fashion. Well, in a celebratory mode, in precisely
10 days from today there’ll be an important odometer moment for the field of genomics.
October 1, 2015 will mark the 25th anniversary of the launch of the Human Genome Project.
I know I don’t need to tell this audience how this remarkable endeavor changed so many
aspects of biomedical research and paved the way for other high impact big biology projects.
Well, to celebrate this important milestone and to help us reflect on the past quarter
century of progress in genomics, NHGRI’s History of Genomics Program will be hosting
a monthly seminar series on the NIH campus that features Human Genome Project participants
who will be sharing their perspectives about the project and how it affected their careers.
The series is actually going to kick off in December with a panel discussion that will
include the key NHGRI leadership during the Human Genome Project, specifically Drs. Francis
Collins, Elke Jordan and Mark Guyer. Other confirmed speakers that will follow in early
2016 include Drs. Mayin Olson [spelled phonetically], Ewan Bernie [spelled phonetically], Bob Cookdigan
[spelled phonetically], Mark Gomarra [spelled phonetically] and David Bentley. The lectures
are going to be video recorded and made available on our Genome TV channel on YouTube and the
NHGRI History of Genomics program will also conduct oral history interviews with all the
presenters and add these to our growing historical archives. Featured, as an NGHRI Genome Advance of the
month since last council meeting, have been publications examining genomic aspects of
sun exposure on skin, treating inherited blindness, incorporating gene disease association data
into drug development, and gene therapy for hearing loss. And as always we have to tell
you about genomes in the news. And as always there’s been a number of recently generated
genome sequences reported since the last council meeting. I’m sure you’re aware of all
these, but let me just summarize them quickly. The western camel, ancient Eurasian genomes,
the blow fly, the octopus, kiwi, Kennewick Man, sea anemone, and barley, an ancient Liberian,
99 Ebola genomes from the recent outbreak, and 2500 Icelanders. Adding to our growing
collection of genomic sequence data. Moving on to our Extramural Research Program.
We did something fun in July, I think of an important day for the Institute. The Extramural
Research Program hosted an NHGRI retreat that examined the Institute’s 2011 strategic
plan. Charting, of course, for genomic medicine from base pairs to bedside and we specifically
were considering how well that document reflects the current opportunities and priorities for
NHGRI’s Genomic Research Portfolio. Using the original five strategic domains of the
plan as the organizing frame work we had staff work to identify scientific gaps opportunities
that were not addressed in the 2011 document. Also shifting priorities for the goals described
in the plan and also to try to think about new barriers and new challenges. It’s actually
proved to be a very rigorous and fruitful discussion engaging individuals from really
all parts of the Institute. I think this retreat really helped us to organize our thinking
about how to monitor progress going forward and consideration of establishing when would
be appropriate to launch a larger strategic planning effort. Recall we did one leading
up to the 2011 plan, the previous one was leading up to the 2003 plan. I think the overall
take home themes from this retreat were that first of all the 2011 strategic plan still
accurately captures the highest priorities for research for the Institute and then second
of all I think we can wait at least a couple of years before launching a new strategic
planning process. Although, we’ll certainly continue to monitor that knowing that at some
point in the coming years we’ll want to have another such strategic planning process
conducted. Well, moving to our genome sequencing program
as this council is well aware the NHGRI’s Genome Sequencing Program is in the midst
of various changes as part of its renewal. The three components of the new program that
have seen applications received and reviewed with associated funding plans to be discussed
during the closed session of this council meeting are shown here. These components are
The New Centers for Common Disease Genomics Program, the Centers for Mendelian Genomics
Program, and the new Coordinating Center. Now, funding opportunity announcements (FOAs)
were also issued for two additional new components. The Genome Sequencing Program Analysis Centers
and the High Quality Human and Non-human Primate Genome Sequences. Letters of intent have now
been received in response to these FOAs and we look forward to the next stage of standing
up these two new elements of our overall Genome Sequencing Program. Meanwhile, our existing genome sequencing
program continues to be highly productive. One element of it is the Cancer Genome Atlas,
which is a coordinated effort to better understand the molecular basis of cancer. Data production
including whole-exome sequencing and over 10,000 tumor normal pairs and whole genome
sequencing on over 1,000 tumor normal pairs has been completed. TCGA is currently focused
on data analysis and manuscript writing. For each of over 30 cancer types, the TCGA network
has published a comprehensive integrated account of sequence mutation analysis, copy number
variation gene and micro RNA expression and promoter methylation. TCGA papers focused
on cutaneous melanoma, shown here, and also lower-grade gliomas, shown here as well, were
published this July in Cell and the New England Journal of Medicine respectively. Papers provide
new insights into classifications of tumors in a clinical setting. TCGA looks forward
to publishing more papers in the coming year as the project comes to a close next year. Moving on to a different part of our Genome
Sequencing Program, the Centers for Mendelian Genomics or CMGs were launched in November
2011. Aiming to find as many causal genes for mendelian diseases and traits or mendelian
phenotypes as possible. To date the CMGs have been responsible for discovering over 1500
causal genes for mendelian phenotypes of which greater than 590 are novel in that they had
not previously been associated with any mendelian phenotype. A subset of those discoveries have
now been reported in over 195 publications. Besides making direct contributions to finding
causal genes, the centers help genetic researchers work on similar phenotypes stay connected.
Now, GeneMatcher is a software tool developed in December of 2013 that facilitates matching
and connecting researchers with a shared interest in a candidate gene or genes, and this can
speed up causal gene discoveries. GeneMatcher is now used by over 600 users from 43 countries
and this graph shows the rapid growth of the user community and matches made. So, for example,
by August 1 of this year 560 matches had been made out of the 2658 genes submitted to the
program. Recently the CMGs published a review article in the American Journal of Human Genetics
that reported the CMSs progress on causal gene discoveries, method improvement and also
resource sharing. The article also debuted a score card that shows progress towards the
goal of finding all causal genes for mendelian phenotypes. Now, the upper panel of the score
card shows the proportion of mendelian phenotypes for which causal genes have been identified,
57 percent to date. The lower panel shows the proportion of human genes that have been
identified to be causal for a mendelian phenotype, 15 percent in this case so far. Now based
on information in the score card and the growing number of newly identified — or newly defined
— mendelian phenotypes, the CMG’s growing number of — the CMG’s concluded that a
large number of novel causal genes remain to be discovered. Now improvements in phenotyping
genome sequencing and analysis and worldwide coordination are needed to discover the remaining
causal genes. And the score card is now posted on CMG’s website and will be updated periodically. Moving to another component of our Genome
Sequencing Program, the Clinical Sequence and Exploratory Research or CSER Program,
focuses on the integration of genome sequencing into the clinical work flow, including the
generation interpretation and clinical reporting of genomic information. CSER’s now enrolled
nearly 2900 adults and almost 800 children, nearly 3,000 of whom had germline genome sequencing
data generated and over 500 of whom have had tumor genome sequencing data generated. Now,
as one measure of overall impact, CSER has generated 161 publications, including 12 cross-CSER
working group publications. Two of these were recently published working group papers that
I’ll highlight. One is a joint CSER and a merged paper that was published in the Journal
of the American Medical Informatics Association. This paper surveyed CSER and emerged sites
about current and recommended display of genomic information in electronic health records.
And then the CSER Pediatrics working group has a paper in press at Pediatrics that discusses
the disclosure of genome sequencing results in pediatric practice. Now on September 28th
the CSER and Beyond meeting will take place in the Bethesda area. As this council is aware
this meeting is charged with evaluating key contributions of the CSER Program to date
and prioritizing future scientific opportunities to integrate genome sequencing into clinical
care. The meeting will be webcast live and archived in our Genome TV Channel of YouTube. The next component of our Genome Sequencing
Program I want to highlight is the Genome Sequencing Informatics Tool, GSIT Program,
which is known publicly by the name iSeqTools. The six funded GSIT projects have the mission
to democratize genome analysis by providing researcher-friendly sequence analysis tools
to users outside of large genome centers. Now, the GSIT Program relies on three approaches,
robust software engineering to make tools reliable and easy to use, engaging users with
support documentation and outreach, and finally taking advantage of innovative technologies
such as The Cloud and Fast Interactive App frameworks. Two metrics of the impact of iSeqTools
are one, the number of users who actively engage in discussions and two, automatic reporting
directly from the software. So, for example, there are now over 20,000 registered users
of the Broad Institute’s GATK software. With steady growth from 2012 when GSIT support
began. These users include a large proportion of academic institutions and smaller proportion
of commercial and government users as illustrated in the graph. In 2015, the GATK forum has
each month typically hosted about 650 users and about 150 discussions and has had over
100,000 page views. Moving on, NHGRI’s Technology Development
Program currently has funding opportunities at different stages of solicitation and drafting
process. So, RFAs for Novel Nucleic Acid Sequencing technologies for both DNA and direct RNA sequencing
were released in August with three due dates of October 27, 2015, July 14th, 2016, and
July 15th of 2017. Meanwhile funding opportunity announcements, or FOAs, for the remaining
more general genome technology development concepts will be released soon. Moving on to ENCODE. The goal of The Encyclopedia
of DNA Elements Project is to create catalogs of all functional elements in the human and
mouse genomes and to make those catalogs as a resource to the biomedical community. ENCODE
held a community user’s meeting this Summer that attracted about 200 participants from
outside of ENCODE who heard a distinguished panel of researchers describe how they use
ENCODE data in their work. Attendees also took part in a series of hands-on workshops
to learn how to use ENCODE data in their own research, culminating with participants simultaneously
running ENCODE data processing pipelines on a Cloud-based platform. Workshop videos and
slides are now available online, and feedback from the participants was overwhelmingly positive
and discussions are, therefore, underway for a second user’s meeting in 2016. Now the
ENCODE Portal Infrastructure, one of the key ENCODE data coordination center deliverables,
is being used by the ClinGen resource as a basis for their curation and portal interface.
This demonstrates efficiencies being achieved by cooperation across any NHGRI projects. Now, at our May 2015 meeting, council approved
four concepts for RFAs and functional genomics to build on work currently supported by ENCODE.
For budgetary and scientific reasons we have postponed those initiatives by one council
round moving them from an ultimate review by council in May of 2016 to such a review
now to happen in September of 2016. NHGRI anticipates that our phase will be issued
soon. Meanwhile, ENCODE data continues to be heavily used. There are about 1,200 community
publications — see the blue bars in this graph — from groups without ENCODE funding
who use ENCODE data for their studies. Further, ENCODE consortium members have published about
496 consortium publications shown in purple bars. In addition to the use of ENCODE data
in studies of cancer gene regulation and psychiatric immune, cardiovascular, and metabolic disorders,
recent papers also used ENCODE data in the study of susceptibility to HIV and other viruses,
the genetics of caffeine habituation, and human adaptation to tropical forests. Now
many whole genome sequences will be generated in the coming years, but a major problem is
that we do not know how to interpret most of those genomic variants, especially in noncoding
regions. Some of those noncoding variants have been associated with human disease. So
the goal of a new suite of NHGRI functional genomic variation grants associated with our
recent RFA in this area is to develop approaches that integrate functional data sets to narrow
the set of genomic variants and infer possible causal variants. The computational predictions
will be assessed with experimental data. Now all the data and methods will be released
to allow other researchers to compare methods. Six grant awards were recently made on the
first set of applications and response to this RFA including one made actually by the
NCI to council member, Dr. Jay Sandori [spelled phonetically]. The second set of applications
will be considered by council at the February 2016 meeting. Now the proposed approaches
will use many types of information, transcripts, transcription factor binding, nucleosomes,
enhancers, DNA shape, conservation, and phenotypes including encode, GTEx, and thousand genomes
data. These funded grants will study autism, cancer, bipolar disorder, type 2 diabetes,
and age-related macular degeneration. Two new centers for excellence in genomic
science, or CEGS, have been awarded. The goal of the CEGS at Harvard Medical School led
by Dr. George Church is to develop and apply new methods for in situ single cell profiling
of RNA protein and epigenetic marks and intact tissue in an engineered tissue, novel algorithms
to analyze in situ special patterning and pathway activity profiles will be developed
as well as methods to write special patterns of omic alterations in the context of engineered
tissues. The new CEGS at the University of Washington led by Dr. John Stam seeks to enable
dynamic imaging of gene regulatory regions and chromatin organization, thus revealing
gene activity and functional state and single molecule resolution within intact single cells
and high throughput. The trajectory is to apply these technologies for research and
lay a foundation for their use in clinical diagnostics. The annual CEGS grantee meeting
will be held in November and hosted by the CEGS led by Dr. Zach Kohane. Finally, new
CEGS applications are due in May 2016 and potential applicants should be contacting
program staff within the next couple of months. Moving on to the electronic medical records
and genomics network, or eMERGE, which conducts genomic discovery and clinical implementation
research by leveraging data from large biorepositories linked to electronic medical records. eMERGE
recently finished its second phase and to date, it has completed and published 531 total
projects. eMERGE publications have been cited nearly 9,300 with over 8,300 citations from
phase 2 alone. The network has also developed an impressive set of tools, methods, and software
that are being widely shared with the scientific community. Well, eMERGE has now begun phase
3 with 12 awards, nine to investigative sites, two to genome sequencing and genotyping centers,
and one to a coordinating center. eMERGE 3 will run from September 1, 2015, to May 31,
2019. It aims to expand on best practices and knowledge in effective implementation
of genomic medicine to define health outcomes associated with rare genomic variants in approximately
100 clinically relevant genes, and potentially in broader exome and genome sequence data
in later years. ENCODE 3 will detect rare variants presumed to affect gene function
and assess the phenotypic implications of these variants by leveraging well-validated
EMR data. It will also report actionable variants to patients and clinicians to improve clinical
care and ultimately health outcomes. Further, it will assess the health impact, cost effectiveness,
and ethical, legal, and social implications of reporting genomic variants on a broader
population scale for patients, clinicians, and healthcare institutions while continuing
efforts to improve electronic phenotyping. Lastly, it will provide electronic clinical
decision support enabling an integration of genomic information into EMRs for clinical
research and [inaudible, 05:40]. The phenotypes and exposure, or PhenX toolkit,
has produced an online resource of standard measures for capturing data on common diseases,
phenotypic traits, and environmental exposures. Eighty new measures have been added to the
PhenX toolkit since February bringing the total number of standard measures to nearly
500. These new measures are focused on areas such as obesity, eating disorders, and tobacco
regulatory research. To further promote uptake of PhenX measures, investigators can now access
all PhenX measures in REDCap, a secure web application for building and managing online
surveys and databases. REDCap is an integral part of the NIH Clinical and Translation Science
Award, or CTSA program, and is used by thousands of researchers. Now you might recall that
NHLBI provided fiscal year 2015 funds to launch a PhenX sickle cell disease effort. This work
is now complete and the new collection of measures was launched during the NHLBI’s
annual sickle cell disease clinical research meeting held at NIH last month. And lastly,
PhenX will be featured at the ASHD annual meeting in an invited session entitled “Human
Phenotypes for Researchers, Clinicians, and Patients.” The clinical genome or ClinGen
resource, designed to build and authoritative central resource that defines the clinical
relevance of genomic variance for use in precision medicine and research, has made significant
progress during the second year of this highly collaborative program. ClinGen’s marker
paper, which describes project goals and progress, was published in the New England Journal of
Medicine this past July and the paper was accompanied by an editorial highlighting the
importance of broad data sharing and collaborative curation efforts such as that provided by
ClinGen that helps to make sense of the rapidly accumulating genome sequence data. Now ClinGen’s
actionability working group led by Doctors Jim Evans and Katrina Goddard have nearly
completed scoring the clinical actionability of the 56 genes on the ACMG’s secondary
findings list. A subset of the evidence reports and scores for the genetic condition shown
here are already available on ClinGen’s public website with the rest being posted
before the annual ASHG meeting. And meanwhile ClinGen will have visibility about the ASHG
and the National Society of Genetic Counselors meetings this fall. At the ASHG meeting, for
example, ClinGen will hold an interactive workshop that overviews ClinGen tools and
framework for curating the clinical significance of genes and genomic variants. The Genomic
Society Working Group of this council is charged with providing advice on short- and long-term
planning and priority setting for the Genomics Society activities of the institute. The working
group held its annual in-person meeting in April and the working group chair, Dr. Lisa
Parker, is going to provide an update about the working group later in the open session
of this council meeting. Now NHGRI provides about $12 million in small
business grants annually and our current small business innovation research, or SBIR, and
small business technology transfer, STTR, portfolio funds 18 phase 1, which are proof
of principle, and 12 phase 2, which are pre-commercialization awards. New phase 2 efforts include single
cell analysis at cellular research and mission bio, next generation DNA sequencing innovations
at Dovetail Genomics, Sage Science, Pressure Biosciences, enginapsis [spelled phonetically],
all of the nucleotide synthesis advancements at MacDonald Research and Pharmacique [spelled
phonetically], and novo [spelled phonetically] CMOS hybridization detection technologies
at InSilixa. These small business grants are drawn from an increasingly stronger and competitive
application pool. Our next small business grant funding will be increasing by about
$6.6 million each of the next two years and we’ve been actively encouraging small businesses
to apply by reaching out to the community and by targeting recent applicants and grantees
and we really hope that our council will help get the word out about this NIH wide opportunity
for small businesses, many of which spring out of academic and research laboratories. And finally, to talk a bit about training
and career development, NHGRI has a long-term commitment to preparing the next generation
of genomic scientists and scholars and continues to enhance our investment in research training
and career development programs. Therefore, it is important to ensure that NHGRI provides
first career enhancing activities and second, accountability by developing tools to track
the career paths of participants, trainees, and career awardees. In 2009, we awarded the
first data analysis and coordinating center to assist grantees and NHGRI in tracking the
progress of mainly participants in our diversity action plan program. And at the last meeting
council approved a concept for continuation of a coordinating center for the training
program. And the open competition RFA for this coordinating center has now been issued.
The main focus of the reissued RFA is to maintain, improve, and/or develop a training database
and to collect and analyze data about trainee career paths. The coordinating center will
also provide logistical support for an expanded annual program meeting. The expansion of these
activities will encompass all of our training career development and diversity action plan
programs, and these include activities of all three of NHGRI’s extramural programmatic
divisions. And applications in response to this RFA are due October 20, next month. Okay, so moving beyond NHGRI and now talking
about NIH Common Fund and also trans NIH efforts. We’ll start with the Knockout Mouse Phenotyping
Project, KOMP2, which was launched in 2011 with the goal of making and phenotyping 2,500
mouse knockout strains over five years. The project is on track to meet its goal in the
fall of 2016. The project was approved for continuation by the NIH Common Fund and thus
will finish the final five years of the standard 10-year Common Fund project lifespan. The
plan is for the NIH Common Fund to match the funds provided by other NIH institute centers
and offices, and in total, there will be 18 institute centers and offices contributing
funds to the next phase of the program for a total of roughly $100 million of funding
over the next five years. And the funding opportunity announcements, or FOAs, are being
developed for publication in the NIH guide. The program is planning to continue broad-based
phenotyping of knockout mice in collaboration with our international partners through the
international mouse phenotyping consortium. The Library of Integrated Network-Based Cellular
Signatures, or LINCS program, aims to create a network-based understanding of biology by
cataloguing changes in gene expression and other cellular processes that occur when cells
are exposed to a variety of perturbing agents. LINCS uses computational tools to integrate
this diverse information into a comprehensive view of normal and disease states that can
be applied for the development of new biomarkers and therapeutics. Major elements of recent
progress include the public release of data and harmonized metadata. There have also been
multiple internal collaborative projects as well as LINCS-wide joint working groups on
assay development and data standards. With the aim of expanding the scope and relevance
of the LINCS data and tools, the program solicited supplemental requests for relevant grants
from other institutes and centers. Fifteen supplemental requests were received and after
a rigorous programmatic review, eight collaborations will be supported. The awards are one-year
supplements with 50/50 co-funding by LINCS and the indicated entities on the third bullet.
The Genotype Tissue Expression, or GTEx, is an NIH Common Fund study that aims to provide
a comprehensive gene expression atlas. This will provide insight into the mechanisms of
gene regulation and aid in the interpretation of genome-wide association studies. In August
of 2015, GTEx reached its goal of 900 donors. Because of efficiencies that have been realized,
the program may be able to enroll an additional 50 to 60 more donors. Analyses of the samples
and data will continue for another 18 months. The new GTEx portal has been released and
features updated visualization tools. The version 5 data release occurred in June and
includes data from over 9,000 RNA samples. The next version of the data is expected in
the fall with the release of matching genotype data from about 450 donors, or half of the
total donors in the project so far. Moving on, the goals of the protein capture
reagents program are to pilot a community resource of low-cost, high-quality renewable
affinity reagents for human transcription factors and to develop technologies for next-generation
platforms. The program has successfully produced about 1,100 validated monoclonal and recombinant
antibodies to 370 human transcription factors. These antibodies are available for affordable
purchase through the protein captured data portal. The program is near the end of its
pilot phase with one remaining grantee at Johns Hopkins finishing production of mouse
monoclonals and custom-designed immunologics, a subcontractor of the Johns Hopkins based
in Puerto Rico was recently invited to participate in a White House demo day, an exhibition that
showcased the wide-ranging talents of innovators from across the United States and its territory.
The Human Heredity and Health in Africa or H3 Africa’s central goal is to develop a
sustainable and collaborative African genetics and genomics research enterprise. Next month,
the seventh H3 Africa consortium meeting will be held in Washington D.C. Several events
will augment the main meeting including an ancillary H3 Africa session at the ASHG annual
meeting in Baltimore which will occur immediately before the H3 Africa consortium meeting, and
a full day of H3 Africa presentations in the NIH campus. Another meeting will bring together
researchers involved in planning the U.S. Precision Medicine Initiative with H3 Africa
investigators and other consortia to discuss strategies for inclusion of traditionally
underserved communities in biomedical research. This year two more biorepositories will be
scaled up and begin receiving, storing, and sharing DNA samples. The addition of these
biorepository means that H3 Africa will have sample storage facilities across sub-Saharan
Africa, one in the east, one in the west, and one in the south. And H3 Africa has been
given the approval from the NIH Common Fund to plan for a phase two which will extend
the program for an additional five years. NIH program staff are working on details of
the proposal which will be presented to this council at our main meeting. The NIH Common
Fund’s Undiagnosed Diseases Network, or UDN, aims to improve the level of diagnosis
and care for patients with undiagnosed diseases, facilitate research into the etiology of these
diseases, and create an integrated and collaborative research community to identify and share improved
options for optimal patient management. This September the UDN launched its online patient
application portal called the UDN Gateway and is now accepting patients at all seven
UDN clinical sites across the country. For access to the UDN Gateway, anyone can click
on the apply button which is located on any of the UDN web pages. And meanwhile, six gene
function research, or R21 awards, for the UDN were made this summer. As you can see
from the table, the six studies will investigate the underlying genetics, biochemistry, and/or
pathophysiology of newly diagnosed diseases in association with gene variants identified
through the NIH UDN, in many cases using model organisms and cell culture systems. In another initiative, the Gabriella Miller
Kids First Pediatric Research Act was passed by Congress in March of 2014 and signed into
law by President Obama in April of 2014. Now the purpose of this act is to eliminate taxpayer
financing of political conventions and repurpose those funds for a 10-year pediatric research
initiative. These funds, at $12.6 million per year for 10 years, are now designated
for an NIH Common Fund program referred to as Kids First. The program aims to develop
a data resource for the pediatric research community of well-curated clinical and genome
sequence data. The major focus will be on cancers with an inherited basis and on relapse
and treatment-resistant tumors, as well as on structural birth defects. A program announcement
was released in fiscal year 2015 seeking samples for genome sequencing. The goal for the current
year is the production of whole genome sequences from up to 6,000 samples. In early fiscal
year 2016, the program will release more funding opportunity announcements for the creation
of a data resource so that sequence data are both useful and accessible to researchers,
solicitation of additional samples, and generation of additional genome sequence data. Moving
on to trans NIH initiatives, the big data to knowledge, or BD2K initiative, is a trans
NIH data science effort that aims to transform the ability of scientists to take advantage
of data resources and software in biomedical and translational research. Among a wide range
of ongoing BD2K activities, NHGRI staff have been most actively involved in the following
programs. BD2K is making a major investment to enhance the training of the next generation
of biomedical researchers in computational, statistical, and data science skills. Part
of that next generation is shown on this slide. Several funding opportunities are available
to researchers and new training awards will be announced soon. Recently BD2K funded 15
grants to develop software in targeted research areas including data compression and visualization.
Among the open BD2K funding opportunities is one for the development of software tools
and methods in the areas of data privacy, data repurposing, and applications of metadata.
And a number of BD2K administrative supplement programs are in process to support data sharing,
discovery, and interoperability of datasets across databases and the supplement awards
will be announced soon. Now, as expected, planning for the recently
announced Precision Medicine Initiative reached a frenetic pace over the summer with hopes
to launch the high-profile initiative in fiscal year 2016 which means as early as October
1 if we have a budget. NIH has been active on multiple fronts to prepare for this important
new program. Now as I mentioned previously, NIH is doing an excellent job of capturing
and disseminating information about the Precision Medicine Initiative planning activities via
this dedicated webpage, which is easy to remember, www.nih.gov/precisionmedicine. I would strongly
encourage you to regularly go to the site to get the latest information about the initiative.
I’m certain that this will continue to be the place to go to to inform you about plans
for the initiative, future meetings, funding opportunities, and so forth. Well, recall
that last spring Dr. Francis Collins appointed a working group of the NIH Advisory Committee
to the director to develop a vision and a plan for the U.S. National Research Cohort
component of the Precision Medicine Initiative. Since the May council meeting, that working
group has held three more public workshops to assist them in developing that plan. Council
member Jay Shendure has been a member of that working group. Specifically, there have been
workshops on digital health in the Million Person Precision Medicine Initiative Cohort
held in late May, a participant engagement in health equity workshop held in early July,
and mobile and personal technologies in precision medicine workshop held in late July. And as
with the earlier workshop, these events were video cast live and there was a very active
Twitter stream associated with each. And in addition, I can tell you that video recordings
as well as various relevant documents including summaries from those workshops are now available
on this precision medicine website. If you click under events, it takes you to this page
and I just want to emphasize a lot of information is there about all those workshops. Now really
the most important development with respect to Precision Medicine Initiative since President
Obama’s announcement in January actually occurred last week. Specifically, the NIH
advisory committee to the director working group on the Precision Medicine Initiative
released its report during a September 17 public teleconference meeting of the advisory
committee to the director. This lengthy and detailed report shown on the left with an
accompanying press release shown on the right provides many important recommendations and
articulates a clear early vision for the development of the U.S. National Research Cohort. Now
following — and I would strongly urge you to look at this report to get lots of information
about the conclusions of the working group. Following discussion by his advisory committee,
Dr. Francis Collins accepted the report. And yet in more breaking news from last week,
Dr. Francis Collins also announced that Dr. Josie Briggs who serves currently as Director
of the National Center for Complementary and Integrative Health, will immediately assume
the role as Interim Director of the Precision Medicine Initiative Cohort Program. Josie
will serve in this capacity until a permanent director is identified with the search for
that individual beginning in the very near future. I and other NHGRI staff who have been
involved in planning efforts for the U.S. National Research Cohort component of the
Precision Medicine Initiative look forward to working with Josie, we already are working
with Josie, and as we together shift from the planning shift from the planning stage
to the implementation stage of the initiative. There’s so many details to be worked out
and all of this needs to happen on a very fast pace. But as I mentioned before, I fully
expect that I will be regularly updating Council about developments with the Precision Medicine
Initiative. Then highly relevant to the Precision Medicine Initiative is an important development
related to the common role for protecting human subjects in research. And on September
2, the Department of Health and Human Services announced a notice of proposed rule-making
to revise the common rule. The proposed rule is now open for public comment through December
7. The proposed revisions aimed to bring the regulatory provisions for protecting human
research participants in line with the changing nature of research since the common rule’s
original publication in 1991. Specific changes aim to better protect and respect participants
of research while streamlining research oversight and decreasing ambiguity for responsible parties.
Major proposed revisions include improving informed consent processes with shorter and
clearer consent forms, calibrating the level of review for studies with the risk posed
through new exclusions and exemptions, requiring informed consent for the secondary use of
biospecimens through, for example, broad consent for future unspecified research, and new data
security and information protection standards to promote privacy and confidentiality. In
addition, proposed revisions aim to streamline IRB review and extend protection to all research
performed at sites that receive federal funding for human subjects research. This proposed
rule and its call for public comment is an incredibly important opportunity and I encourage
anyone and everyone to consider these proposals and provide comments. So moving on to our Division of Policy Communications
and Education, the MINC Study, which stands for Method for Introducing a New Competency,
is a collaborative project led by Dr. Jean Jenkins of the NHGRI Genomic Healthcare branch,
Dr. Kathy Calzone of the NCI, and Laura Badzik [spelled phonetically] of West Virginia University.
Now MINC was a year-long genomic education intervention that trained, supported, and
supervised institutional educator and administrator dyads in 21 magnate hospitals to increase
the capacity to integrate genomics, that’s the competency in this case, into clinical
nursing practice. A group of these dyad members was brought together in June to share information
learned from the collective experience. At this meeting, the group also began to design
a toolkit to promote genomic practice, capture the expertise and processes, and collect resources
assembled by the magnate hospital dyads participating in the studies. They also initiated plans
for dissemination of this work. Now the toolkit will be launched as a website and added to
the many other genomics resources for healthcare providers that the genomic healthcare branch
maintains. The homepage design has been created, reviewed, and plans for development are well
underway. It is expected that the toolkit will remain under construction for 2015 with
a launch planned for early 2016. The Genetic and Rare Diseases Information Center, or GARD,
which I actually mentioned earlier, was established by NHGRI and the then Office of Rare Diseases
Research, which is now within the National Center for Advanced and Translational Sciences,
or NCATS. Now the goal of GARD is to help the public find useful information about genetic
and rare diseases. GARD information specialists provide current and accurate information about
genetic and rare diseases in both English and Spanish through phone inquiries and via
the web. In April of 2015, GARD collaborated with the NHGRI Communications and Public Liaison
branch to present updated advice through a series of videos on topics such as how to
find a specialist, finding treatment, and getting involved with research. For the first
time, GARD also included a comprehensive overview in Spanish. These videos can be accessed through
the main and underlying GARD pages on Genome.gov, as well as the MCATS YouTube page. As of earlier
this month, these videos have been viewed over 1,300 times. Meanwhile the NHGRI Communications
and Public Liaison branch continues to share written and visual information about the Institute’s
initiative studies and funding opportunities with larger and more diverse audiences through
the use of social media outlets such as Facebook, Twitter, and YouTube remain the primary portals
for disseminating this information. NHGRI currently hosts two Facebook pages, two Twitter
accounts, a YouTube channel, and a livestream account used to webcast events such as this
Council meeting. So for context I thought I would share with you some numbers. So as
of earlier this month, the Genome.gov Facebook account had about 86,000 likes, a 64 percent
increase over last year, and the Genome.gov Twitter account had over 18,000 followers,
a 52 percent increase over last year. Our DNA day Facebook account garnered about 41,000
likes, a 77 percent increase over last year with the DNA day Twitter account seeing a
7.2 percent increase over last year to a total of about 8,000 followers. Now our genome TV
channel of YouTube currently features about 1,266 videos, 248 of which were added in 2015,
and the channel has close to 12,000 subscribers while our livestream page is close behind
with almost 9,000 subscribers. Moving on to update about NHGRI Smithsonian
exhibition, Genome: Unlocking Life’s Code, let me remind you that for the next three
years, this exhibition is making stops as it tours across North America. The exhibition
just left my hometown of St. Louis and is currently on its way to Oregon Museum of Science
and Industry in Portland where it will open on October 2. While the exhibition in Portland,
NHGRI will sponsor programs for the public and secondary school students in partnership
with the Foundation for the NIH, the Native American Youth and Family Center, and the
Oregon Museum of Science and Industry. Please continue to check the exhibition’s website,
Unlocking Life’s Code.org, and follow it on social media for the most up-to-date program
information. Following its stay in Oregon, the exhibition will begin 2016 in Milwaukee
at Discovery World, after which is travels to Salt Lake City, and then on to Wichita,
Kansas. And the exhibition’s accompanying website, Unlocking Life’s Code.org, now
publishes e-newsletters designed to help educators with tips, tools, and evaluation opportunities.
The newsletter debuted in March of 2015 and is published monthly. It has experienced steady
growth in popularity since its launch, now having over 1,200 subscribers. For those interested,
you can sign up by visiting the Unlocking Life’s Code.org website. And as I mentioned,
the exhibition just left St. Louis a couple weeks ago and while the exhibition was still
in St. Louis, NHGRI and the Foundation for NIH partnered with the Academy of Science
St. Louis to put on a public program entitled “An Evening with the Experts: DNA Personalized
Medicine and You.” The program featured experts from the St. Louis area discussing
the promise of precision medicine as well as associated ethical and health disparities
topics. I provided a keynote address at the event and moderated a panel discussion on
the promise of precision medicine which featured Dr. Sess Cole for Washington University, Dr.
Stephen Kingsmore from the University of Missouri Kansas City, and Dr. Elaine Mardis from Washington
University. And then NHGRI’s Dr. Laura Rodriguez moderated a second panel on ethics and health
disparities issues which featured Washington University faculty members Dr. Sarah Gehlert,
Dr. Anya Putinski [spelled phonetically], and Dr. Will Ross. In early August, the Education
and Community Involvement branch held its annual summer workshop in genomics known locally
as the short course. This year the program was focused on secondary teachers and faculty
from nursing programs. So nine high school teachers from the D.C. metropolitan area participated
in the three-day course that featured presentations and interactive sessions with NHGRI researchers.
During these sessions, participants had an opportunity to discuss novel ways to integrate
genetics and genomics into their classrooms. And for the fifth year, the Genomic Healthcare
branch hosted a parallel course that involved 15 nursing faculty who presented — who participated
in an intensive four-day overview of genomics. Course presentations were focused on the relevancy
of advances in genomics to healthcare educators. Updates on the most current understanding
of the genomics and genetic basis of disease and potential strategies for nursing education
in genomics. And finally, the partnership for community
outreach and engagement in genomics coordinated by our Education and Community Involvement
branch held its second in-person meeting earlier this month in St. Louis. This partnership
group is comprised of community liaisons and health advocates who are working together
to engage their communities about genomics to inform and share perspectives about genomics
research and to help refine the focus of research. This past year, the partnership has been developing
an infographic describing the basic elements of genomics that can be shared with their
communities and healthcare facilities, in classrooms, on websites, and through social
media. And finally, just a few things about the Institute’s intramural research program
starting with former Congressman Louis Stokes who sadly passed away in August, and through
his 30-year career as a representative from Ohio, Stokes was a strong supporter of federal
funding for biomedical research in general and for NIH in particular. He was a champion
of extending the benefits of biomedical research to all people, especially in the area of health
disparities. Stokes was instrumental in launching NIH’s Office of Minority Programs in 1990
which became the Office of Research on Minority Health in 1993 which then rose to center status
in 2000, and finally recently gained institute status in 2010. Now of relevance to the NIH
Intramural Research program, in June of 2001, NIH dedicated building 50 on the main NIH
campus as the Louis Stokes Laboratories and I can tell you that NHGRI’s intramural researchers
occupy almost one entire floor of this building which is shown on the bottom right. Meanwhile,
Dr. Praveet Gore [spelled phonetically], a physician scientist in the laboratory of Dr.
Dan Casner, NHGRI scientific director, has been awarded the 2015 American College of
Rheumatology distinguished fellow award. This award is given to clinical and research fellows
who are nominated while in a rheumatology fellowship training program in recognition
of their meritorious performance throughout their clinical and research training. Just
a few highlights from our intramural program, since the last council, these would include
Dr. Shawn Burgess and colleagues who reported the gene editing technology known at CRISPR/Cas9,
is six times more effective than other techniques at honing in on target genes in inserting
or deleting specific sequences. Their study was published in genome research. A team led
by Dr. Lasvisiker [spelled phonetically] published a study that involved sequencing the genomes
of presumed healthy participants and then determining the frequency of punitive or presumed
mutations that should almost certainly lead to a genetic condition. Their study was published
in the American Journal of Human Genetics, and then Dr. Chuck Venditti and colleagues
published a study based on 10 years of observational studies with large patient groups with two
inborne errors of metabolism. The team concluded that some “medical foods” designed to
help manage patients with rare inborne errors of metabolism may cause harm in some patients
when their use is not carefully monitored and managed and their study was published
in the Journal of Genetics in Medicine. And those are the main things I wanted to tell
you before ending. Of course, as always, I want to put a plug in for anyone wishing to
receive my monthly email update called the genomics landscape. You can go to this URL
and register. And of course, a personal thanks to lots of people who helped put this together.
Fifty to 60 staff members, probably involved contributing slides and getting all these
materials, including a lot of stuff that just broke over the last two weeks. You can see
a bunch of stuff last week. If it wasn’t for this group effort, we’d never get this
done. Thanks to the communications group and the web team and of course, Kris Wetterstrand
is the ring leader to make all this happen and here is a picture shown with Kris and
Elizabeth Thompson which was taken in 2009. And that’s my director’s report. But two last things, I’ve put in to place
previously to entertain council a little. Anything humorous or relevant that’s come
up a day in my life. I have two to tell you at this time. One which is a follow on to
what I told you in February. Recall the story I told you about my double helix model which
ended up in a real frenetic set of activities requested by the White House so that it could
appear in the President’s announcement. The White House came good on a promise that
was made to me that eventually I would be rewarded by the White House for the schlepping,
getting the double helix schlepped down, and indeed, it didn’t get here until the summer
but I did get an autographed copy — I have this photograph, from the President. So I
thank the White House for coming good on that. The second story is one that is something
that I think is humorous but happens to me all the time. So as you know, we have this
history and genomics program now at the Institute. We have an institute historian and we’re
very organized now that when we come across files or old boxes of materials, they get
sorted through and occasionally when somebody doesn’t know what to do with something,
it gets brought to me. What should we do? Look what we just unearthed and when people
move on or when offices get cleaned up or boxes that get unearthed and so forth. And
every once in a while something gets brought to me that just makes me chuckle and I wanted
to share it with you. Earlier this year this box of old photographs was brought. Actually
it came from our intramural office, of all places, and I just really enjoyed this because
— and I wanted to bring it to Council because it allows you to say can you identify the
council member in this old photograph? And of course, if you think about it, there’s
only one council member that used to be at NHGRI and that’s this guy right here. [laughter] A very youthful Bob Nussbaum standing next
to who must be Art Garfunkel, right to your right. It has to be. And I just — this just
— this made me smile the day this was brought to me, that we unearthed this photograph.
And Bob, can you tell us — this was where and when and do you remember who these folks
are? Bob Nussbaum:
Sure. So the guy on the far right is Lou Chase who was head of medicine for the Wash U service
at the John Cochrane V.A. Hospital, and next to him — next to me on the other side is
Elliott Abby who was the other chief resident. He and I were chief — co-chief residents
at the V.A. Hospital with John Cochrane and I’m afraid I don’t remember the person
on the far left. He was less involved. That was a great — really a great experience that
they allowed me to do as a senior resident. That was just I think maybe a week or two
after seeing a guy in the emergency room who had the worst anaphylactic reaction to I.M.
penicillin I’d ever seen and he just blew up. Male Speaker:
Wow. Bob Nussbaum:
And we actually rescued him and the guys in the E.R. were absolutely terrific. That ended
up a really good residents report. Male Speaker:
I bet. So the other thing I accomplished by showing this slide is that it now means that
the staff sitting in the back of the room are going to be much better about cleaning
up their office when they move on because they know that if they leave behind things,
I will embarrass them at some point in the future. But in any place, Bob, you look great
there. You actually only look maybe five years older than this picture. Okay. Male Speaker:
And so was David Crosbie any good at sequencing? [laughter] Male Speaker:
And with that, I will end my director’s report. Male Speaker:
Actually, can I just make one other comment and that is I just wanted to say something
about Bill Gelbart. So Bill introduced me to the NIH review process. I sat on the committee
for NIGMS that reviewed pre-doctoral and post-doctoral training grants in genetics. I was a brand
new assistant professor who just came on and Bill was really just instrumental in mentoring
me on what it meant to do side visits, what it meant to do a review. He was absolutely
terrific at teaching and mentoring people. So I just wanted to add that as an extra aspect.
I’m really sorry to hear of his passing. Male Speaker:
And it’s not at all surprising to hear you tell that story because I just — I cannot
stress enough, we could probably spend hours here if you heard from various NHGRI staff,
especially those who have been closely working with the genome sequencing program for sort
of just the wise counsel he has given us. He just for so many years was the person you
would always want to get on the phone and find out what does he think about this. He
was just instrumental in advising us in many ways, but particularly in the genome sequencing
program. So it is a huge loss of a really good friend and colleague. Male Speaker:
Yeah, likewise I’d like to comment on the loss of Elizabeth Thompson. She was, of course,
a native Iowan. She was always proud of Iowa. I went to her funeral and she was definitely
proud of NHGRI and the LC program and her contribution to that and all the people here.
I’m sure her husband, Jim Hanson, would want me to express that. Male Speaker:
Bill mentored me. He was on our standing review committee when I first came to NHGRI and learned
to be an SRO. And he was terrific to work within that setting. And Elizabeth and I used
to engage in a discussion all the time whether Iowa or Indiana was more representative of
the Midwest. [laughter] Those were probably to all of you boring conversations
but we had fun with it. Male Speaker:
Any other questions about the director’s report? Okay. Let’s move on then. [end of transcript]

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