Tuesday, November 21, 2006

Medical Sequencing

The National Human Genome Research Institute issued this press release yesterday, noting that a new era of sequencing for cancer and other medical purposes has begun. Here is a brief excerpt:

"Genomic sequencing has already made a substantial impact on both biological and medical research. A major focus of the next phase will be medical sequencing, which involves using sequencing technologies to identify genes that contribute to common human diseases, most of which have so far eluded gene hunters," said NHGRI Director Francis S. Collins, M.D., Ph.D. "These discoveries will shed new light on the biological pathways involved in human health and disease, which in turn will lead to better strategies for diagnosis, treatment and prevention. It is gratifying that our sequencing centers are going to play a major role in bringing the promise of personalized health care closer to reality."

....Over the next four years, the centers in NHGRI's Large-Scale Sequencing Research Network will utilize existing technology to continue large-scale sequencing of important targets. Almost half of the sequencing capacity will be dedicated to medical sequencing. The sequencing centers will also pursue new ways to increase the speed and lower the cost of DNA sequencing by testing and implementing several new technologies, which could potentially revolutionize large-scale sequencing and expand the use of genomics in medical research and health care. The combined sequence output from the centers, using current technologies, is expected to be about 12 billion DNA base pairs per month - the equivalent of four human genomes.

....Other medical sequencing projects will use DNA sequencing to: discover new genes that are involved in common diseases; identify the genes responsible for dozens of relatively rare, single-gene (autosomal Mendelian) diseases; sequence all of the genes on the X chromosome from affected individuals to identify those involved in sex-linked diseases; and survey the range of variants in genes known to contribute to certain common diseases. The start of each project will depend on a number of factors, including the strategic selection of specific diseases and the availability of patient samples with appropriate informed consent.

Science has a report on the news release here.