National Institutes of Health

U.S. Genome Centers Expand to Rare Diseases, Clinical Genomics

Jocelyn is a staff writer for Science magazine.

The U.S. government is renewing its push to move genomics towards the clinic. Today the National Human Genome Research Institute (NHGRI) announced its latest 4-year genome sequencing program, funded at $416 million over 4 years. NHGRI's "flagship" sequencing program will expand beyond three huge centers and "sharpen its focus on medical applications," said NHGRI Director Eric Green in a press call today.

The big three are still on top: 77% of the money, or about $319 million, will go to these existing centers. They include the genome center at the Broad Institute in Cambridge, Massachusetts, headed by Eric Lander, which will receive $35.9 million the first year; a center at Washington University in St. Louis, led by Richard Wilson, which received an initial $28.4 million; and Baylor College of Medicine in Houston's center directed by Richard Gibbs, which won $21.3 million. These centers were workhorses in completing the Human Genome Project, and now they will continue to sequence thousands of people's genomes. The centers are also cataloging genetic changes in human tumors together with the National Cancer Institute.

Despite ever-cheaper and faster sequencing technologies that now allow even a small lab to sequence an entire human genome, there is still a need for the big centers to explore genome biology, test out new technologies, and find better ways to analyze the data, say NHGRI officials. "We believe that large scale approaches continue to provide exciting opportunities," said NHGRI Deputy Director Mark Guyer. However, because sequencing costs continue to decline, the centers' grants will drop 5% a year.

For the first time, the sequencing program will also fund some smaller centers. Three will hunt for mutations underlying rare inherited diseases caused by a glitch in a single gene. Labs that will share $40 million over 4 years from NHGRI (and another $8 million from the National Heart, Lung, and Blood Institute), include: a $5.2 million a year center at the University of Washington, headed by Deborah Nickerson and others; a $2.8 million a year center at Yale University, led by Richard Lifton and others; and a joint center with $4 million per year led by David Valle at the Johns Hopkins University and Baylor's James Lupski.

These centers will follow on recent successes with sequencing part or all of genomes to track down genes behind the more than 6000 so-called Mendelian disorders; less than half are known so far. The results will improve diagnosis and possibly lead to new treatments. The centers already have DNA from patients with hundreds of diseases and will study "as many disorders as possible," depending on technologies and how many more samples they can gather, said NHGRI Mendelian centers program director Lu Wang.

Another $40 million will go for five multidisciplinary teams—including scientists, physicians, ethicists, and patients—to explore using genome sequencing as part of routine medical care. They will examine questions such as how to add genomics to health records, and when to tell patients about unexpected genomic findings not related to the disease they're being treated for. And around $20 million not yet awarded will fund software to handle the genome data deluge.

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