NEW YORK (GenomeWeb News) – The National Human Genome Research Institute plans to use the $509 million it has requested for its 2010 budget to support ongoing programs that it sees as beginning to bear fruit, such as the International HapMap Project, and those younger programs that so far offer more promise than produce, such as the Cancer Genome Atlas, the institute's Acting Director, Alan Guttmacher, explained in the institute's budget proposal.
NHGRI also plans to continue cutting the cost of its sequencing research by using more next-generation tools, which generate more data about human genomics and disease, and to use that knowledge to support "truly preemptive, predictive, personalized, and participatory healthcare," Guttmacher wrote.
He said that the cost of DNA sequencing dropped 50-fold over the decade in part because of the Human Genome Project's support and development of "a wealth of tools, technologies, and process improvements."
"The capillary gel electrophoresis-based sequencing instruments previously used to sequence the human genome will be supplanted with a mix of sequencing approaches dominated by the new, next-generation single molecule-based sequencing instruments," according to the director's overview. One effect of this shift will be a "significant increase in the overall capacity of the NHGRI Sequencing Program," Guttmacher added.
NHGRI plans to continue to support technology development, through the $1,000 and $100,000 mammalian genome sequencing projects through 2014, and will continue to support programs for undiagnosed diseases, rare diseases, and clinical genomics studies aimed at developing personalized medicine.
Under the budget, medical sequencing programs would receive $65 million, up 8 percent over this year. This program currently is funding several initiatives for "single-gene" diseases, sequencing genomic regions that genome-wide association studies identified as linked to common diseases, and sequencing the genomes of human pathogens such as malaria and sleeping sickness.
The Cancer Genome Atlas project would receive $22.5 million, a 32 percent increase.
Genomic function studies that aim to characterize the function of all parts of the human genome will receive $1.2 million. These programs include the ENCyclopedia of DNA Elements (ENCODE) Project, the Mammalian Gene Collection, and the Knockout Mouse Project. While activities in this area will remain "essentially constant," NHGRI sees this as another area in which next-gen tools will enable "a significant increase in the amount of data generated without an increase in cost," according to the acting director.
Research into genomic variation is set at $15 million, or about the same as the 2009 estimate, but the emphasis of the program will shift to analysis of data from the 1000 Genomes Project, while studies of how structural variants contribute to human diseases will continue. Due to lowered estimates of the cost sequencing for the 1000 Genomes Project, funding for the project in the budget is be cut in half, from $15 million to $7.5 million.
Computational genomics studies are tabbed for $47 million, about the same as this year, and NHGRI's report will focus on genomic databases and issues such as public access to large genomic datasets.
Technology development programs would receive around $49 million under this budget, an increase of nearly $1million. Through these programs, NHGRI will continue to develop lower-cost sequencing technologies with the goal of making them widely disseminated and useful in personalized medicine. The director's overview noted that NHGRI funding was "instrumental" in development of three of four new sequencing systems that are on the market.
Other basic genomics research programs would receive $54.2 million, which will fund the Centers of Excellence in Genomic Science and other high-throughput genomic studies.
Translational genomics initiatives are marked to receive $25.5 million, an increase of $909,000. This funding would support the Genes, Environment and Health Initiative and a collaboration with the National Heart, Lung and Blood Institute to evaluate the use of genetic variants to personalize dosing of the drug warfarin.
Studies of the ethical, legal and social implications of genomics research would receive $19 million, an increase of 4.2 percent. The ELSI budget is mandated to be 5 percent of the total NHGRI extramural budget. In 2008, NHGRI established two new centers focused on ELSI research into the issues surrounding large-scale genomics research and emerging genetic technologies.
NHGRI's Division of Intramural Research would receive its $104 million for use in a variety of research areas. These programs include the ClinSeq program, studies of the human skin microbiome, and the Multiplex initiative, which evaluates patients' reactions to genetic susceptibility testing. The $1.5 million increase will be used to recruit new tenure-track investigators, to add personnel to clinical and translational research programs, to acquire and implement new technologies for DNA sequencing, and to support the chemical genomics program, which "will increasingly involve both basic and clinical research applications."
The Research Management and Support program is marked for $22.5 million, which it will use to continue ongoing initiatives in the Office of Policy, Communication, and Education such as National DNA Day and the US Surgeon General's Family History Initiative and development of genetics education resources for health professionals.