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Genes that fit everyone
January 2012
EDIT CONNECT
SHARING OPTIONS:
BETHESDA, Md.—In a commitment to
progressing
the next generation of medicine via the human genome, the U.S.
National
Institutes of Health (NIH) has committed close to half a billion
dollars toward supporting newer and faster gene sequencing efforts. Officials
say
that while this does not represent a promise of increased money, it does
recognize that dramatic drops in the cost of gene sequencing will now enable
funds
to be spent with more precision.
The $461 million in resources was
announced through the
National Human Genome Research Institute (NHGRI), which
is part
of the NIH. The four-year plan expands its flagship Large-Scale Genome
Sequencing Program to focus on medical applications "to begin to explore the
front edge of genomics, which will move us into genomic medicine," says Dr.
Eric Green, director of the NHGRI. Four components of the Genome
Sequencing
Program are recipient of the funds.
The base cost of gene sequencing has, according
to experts
at the NHGRI, dropped exponentially. Now that sequencing is becoming less
expensive, those close to the projects see a day where perhaps
those
evaluations will become part of the medical mainstream.
"Even though we have been trumpeting the fact that thousands of genomes are being sequenced and will continue to be sequenced, the truth is that the power of the studies that are necessary to really understand the genomic basis of common disease, those studies need to be powered by thousands and thousands and very large sample sizes far beyond what has been possible," says Dr. Mark Guyer, deputy director and interim director of the Institute for Extramural Research for the NHGRI. "So the challenge to the large-scale sequencing centers over the next four years is going to be to figure out the best way to take advantage of their unique sequencing capability to do things, to understand things that no other approach can do." Most of the
$461
million—specifically, $319 million—will be divided among existing projects at
three large genome-sequencing centers: the Broad Institute in Cambridge, Mass.;
the Genome Institute at Washington University in St. Louis, Mo.; and the Human
Genome Sequencing Center at Baylor College of Medicine in Houston, Texas. The
funding
level will begin at $86 million the first year of the four-year
spending plan, and drop each year after the first.
Guyer explains that the current practice of the NHGRI is to
gradually decrease funding over the life of an allocation. In the
first year of
this funding, he says, the Broad Institute will receive $35.9 million, the
Genome Institute will receive $28.4 million and the team at
the Baylor College
of Medicine will receive $21.3 million. These centers were part of the Human
Genome Project, and all continue further work in
cataloging human genes.
"I want to emphasize that I framed the funding levels in terms of
the first
year awards," he continues. "Beyond that first year, we plan to
continue a practice that we've actually been pursuing for several years now
which is
to gradually reduce the base funding for these three centers each year
over the four years of the program.
"It's
probably not that well-known, but the remarkable increases in sequence
production that these three groups have achieved over the last several years
have come about even though their funding levels were being slowly decreased,"
he continues. "We believe that the cost of sequencing will continue to
decline,
and that will allow the NHGRI program to continue its high level of
productivity at even lower costs. Doing this allows NHGRI to continue to
redirect money from the large-scale sequencing efforts into other new scientific
priorities as they arrive."
In addition, approximately $20
million will be dedicated to the development of genome sequence analysis
software. The
resulting capabilities can be used by researchers outside of
large sequencing centers that may not currently be able to transform sequence
data into
clinically useful information.
Those close to the project say that making the data relevant in the clinical setting is what's most critical to bringing these advancements into the clinical setting. Dr. Brad Ozenberger, program director for the Genomic Medicine component of the Genomic Sequencing Program, points out that this is not a disease discovery, or a gene association discovery project per se. "In our history, the large-scale centers have been adept at
producing and putting them
together and pushing the technology and discovery,"
Ozenberger says, "whereas this program is really the next step of where the
actual sequencing
technology, and even the disease area is less important than
exploring the methods of bringing genomic sequencing into the clinic workflow
to the
benefit of individual patients."
About 20 percent of the funding
will be used to establish two
new programs. The first, the Mendelian Disorders
Genome Centers, will have as its purpose the identification of the genetic
basis of Mendelian
diseases. Although many Mendelian diseases are rare, with
some impacting less than 200,000 individuals, they provide a clear look at the
function of a
given gene in the body, since they have as their genesis a
mutation of just one human gene. Of the estimated 6,000 human Mendelian diseases,
the cause
of fewer than half is known.
The second new program, the
Clinical Sequencing Exploratory Research
Project, will address the ethical,
medical and societal effects of using genomic sequencing in a clinical setting.
According to Guyer, the NHGRI will
contribute $40 million over the four years to this
effort, and the National Cancer Institute will contribute about another $8
million over that time to
co-support research on questions related to cancer.
The grantees in this program are the Baylor College of Medicine in Houston, Brigham and Women's Hospital in Boston, Children's Hospital of Philadelphia, the University of North Carolina at Chapel Hill and the University of Washington in Seattle. An additional group may be funded in the near future, but Guyer
was unable to disclose additional details on that
effort as this issue went to
press.
Green said in a telebriefing about the funding commitment that in
the decade since the human genome was sequenced, the scientific community
learned a tremendous amount about how the genome works and how alterations
in
it can cause disease.
"We continue to believe that this growing body of knowledge will
ultimately transform the practice of medicine," Green said. "At the same time,
genomics sometimes gets criticized for not yet curing enough diseases
and as
such, some claim that the Human Genome Project was a disappointment. I would
point out that it took approximately 66 years from the first
human-powered
flight in 1903 by the Wright Brothers, to humans then landing on the moon in
1969, and it took about 80 years to manufacture the first
antibiotic,
penicillin, following Louis Pasteur's development of the germ theory of disease
in the mid-1800s. I think it is important to maintain the
very real perspective
that it takes considerable time and continual systematic effort to deliver
results from that first scientific triumph. We believe
that genomics is on such
a steady course of progress en route
to the delivery of medically important advances."
Indeed, when asked about what the next decade in this field will
hold, Guyer says the potential of this field should not be oversold. Instead,
he adds, the future can been seen to hold the promise of what he called
"genetically
informed medicine."
Code: E011204 Back |
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