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NHGRI provides sneak peek into future of genome sequencing program

Tentative plan expands focus on health and clinical applications of DNA sequencing

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The NHGRI Large-Scale Sequencing Program comes up for renewal in fiscal year 2011 and the institute's program managers recently recommended to the National Advisory Council of Human Genome Research that the program's sequencing and analysis centers remain on line. The rationale is fairly straightforward: There is still so much to learn and the expertise provided by such centers is the most efficient way to learn it. Moreover, the current sequencing centers already have shown their ability to help this field of research transition from basic studies to those with medical value.

"This is a framework for what elements the future program will include," said Adam Felsenfeld, Ph.D., program director for NHGRI's Large-Scale Sequencing Program. "Although there are still many conversations and decisions that need to occur internally before we issue the request for applications, the main point is that we will continue our successful large-scale sequencing program."

Large-scale sequencing will not just continue, however. It will evolve. The program staff that manage the centers recommended three new areas of research, including an effort to discover the majority of genes responsible for so-called Mendelian or single-gene diseases; clinical sequencing exploration projects; and efforts to produce software tools for sequence analysis that can be used by researchers inundated by data from the new sequencing platforms, especially as their use expands into medical sequencing projects beyond the large centers.

The concept clearance for the renewal of the sequencing program was approved by the NHGRI's council at its 59th meeting on May 17-18, 2010. NHGRI staff will now begin to write the request for applications (RFA) that will be issued in fall 2010.

Currently, NHGRI's Large-Scale Sequencing Research Network, a major component of the sequencing program, is made up of the following three sequencing centers: the Broad Sequencing Platform, The Broad Institute of Harvard and MIT, Cambridge Mass.; the Human Genome Sequencing Center, Baylor College of Medicine, Houston; and The Genome Center, Washington University School of Medicine, St. Louis.

The Large-Scale Sequencing Program will consist of the four areas below:

  • Large-scale Genome Sequence and Analysis Centers will continue to bring the expertise and scale of power needed to address the genomic basis of complex disease. For example, during the next four to five years, such centers should have the capability to sequence thousands of human genomes from individuals in specific disease cohorts and to continue efforts to catalog all the genetic mutations involved in cancer.

  • A mid-sized Center for Mendelian Disorders was proposed for finding genes responsible for the majority of rare, single-gene (Mendelian) disorders. It is now feasible to find these genes located in the one percent of the genome that code for proteins, known as the exome. This center will organize efforts to identify appropriate samples widely dispersed in the research community, obtain the proper informed consent for genomic sequencing, and coordinate analysis efforts among disease research communities. In addition to elucidating genes responsible for rare diseases, understanding the function of these genes can be informative for human biology and more common disease.

  • Clinical Sequencing Exploration Projects will be investigator-initiated efforts that apply what has been learned from NHGRI medical sequencing activities to the care of individual patients. This program will stimulate the use of DNA sequence information in the clinic to bridge the gap between discovery and patient care and to gain critical insights into the issues that need to be addressed as knowledge from the genome is applied to individual care.
  • A Robust Genomic Sequencing Analysis Tools effort will support the creation of robust, well-documented and well-supported computer software programs that act as informatics tools to analyze DNA sequence data. Such tools will be needed by the biomedical research community involved in genome sequencing. Analyzing current genomic data already presents a bottleneck; this effort would help to remove the blockages.

The concept clearance for the future of the NHGRI Large-Scale Sequencing Program may be read in full at: http://www.genome.gov/sites/default/files/genome-old/pages/About/NACHGR/May2010AgendaDocuments/ConceptClearance-LargeScaleSequencing.pdf PDF file

More information about the current focus of the NHGRI Genome Sequencing Program (GSP) is available at www.genome.gov/10001691/nhgri-genome-sequencing-program-gsp/.

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Last Reviewed: February 28, 2012

Last updated: February 28, 2012