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Genes that fit everyone
January 2012
by Kimberley Sirk  |  Email the author


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



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