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By Rebecca Deusser

February 10, 2003 | After a year and a half of deliberation to articulate a vision for the future of genomics, leading experts in the field have drafted a new five-year plan that will guide funding priorities for the National Institutes of Health.

Last November, the National Human Genome Research Institute (NHGRI) held its second invitation-only conference in Airlie, Va., where nearly 200 scientists, health professionals, and policy makers gathered to discuss the future of genomics after the human sequence is completed.

“Finishing the human genome was the primary task,” says Alan Guttmacher, deputy director of the NHGRI. “With the anticipated finish in April, we need to rethink what we are about, and what we should be doing.”

The goal of the Airlie conference was to gather feedback from the genomics community, and to solidify a five-year plan to carry the program into 2008. Much more than a guide for budget purposes, this plan will detail goals and aspirations for the next era of genomics following completion of the Human Genome Project.

Guttmacher was initially worried that participants might not provide much feedback about the draft plan. Instead, the plan was unanimously disliked, because many of the participants were unhappy with the language and choice of metaphors. Guttmacher took consolation in the fact that so many people were “invested and engaged.”

“So we blew that [draft] up, and came up with the idea of a house, where ideas rest on the foundation of the Human Genome Project,” he explains. “We have also changed the language to be more exciting, to reflect the excitement of this field.”

House Proud
The new “house” of genomics will have three major floors, or themes, which are interconnected with elements such as the technological, ethical, and social issues that shape how research is done.

Now that the genome sequence is in its final stages, the NIH is entering a critical stage, one in which partnerships with private industry will be vital.

Senior genomic figures from the public and private sector, including Eric Lander (Whitehead Institute Center for Genome Research) and Robert Tepper (Millennium Pharmaceuticals Inc.) took part in the two-day discussions in Airlie. The partnership between both sectors may have helped propel the Human Genome Project to fruition, but some see the NIH as the driving force behind genomics.

“What we’ve seen in the last five years is the NIH play with the private sector, and that really exemplifies how important the NIH is,” says Richard Gibbs, director of the Human Genome Sequencing Center at the Baylor College of Medicine, who attended the conference. “Many called the public sector into doubt, saying that momentum [for the Human Genome Project] wouldn’t have been maintained. But discovery can’t always be planned, and that’s what’s done in the private sector. In a sense, the NIH is the biggest biotech company around.”

Gibbs believes that a key direction of genomics will be disease gene discovery, with a balance between biology and sequencing technology. “In the early days, [genome sequencing] was a biology project, and then it became a production and technology project,” Gibbs says. “Now the pendulum is swinging back again, and we have to capture that energy in the community to increase the unfolding of a new era.”

The List Keeps Growing
The NHGRI continues to increase its high-priority list of organisms to sequence. For example, the cow and the dog were added to the list last September, joining others including the chimpanzee, the chicken, and the honeybee (see “Shotgun Sequencing Further Legitimized by NHGRI,” Bio-IT World, July 2002, page 11).

While the future direction appears clear, not everyone agrees on what challenges must be overcome to move the field forward. “There is a feeling [from the community] that computational biology will be the key enabler to the field of genomics,” Guttmacher says.

But as Gibbs sees it, there is a new layer of challenges, including data production. “Data acquisition has been driven by the science, but we should acquire data to drive the science,” he says. Gibbs also notes the need to get higher-order systems biology, such as in vivo markers for protein interactions.

The NHGRI is still operating on the 2002 budget of $429,000. That dollar amount has more than doubled over the past five years. This year’s funding figure is still in doubt, but a large increase from Congress is unlikely. The NHGRI estimates Congress will allot about $465,000 for 2003.

The NHGRI National Advisory Council—made up of 21 members and chaired by NHGRI Director Francis Collins—is scheduled to vote this month whether to formally approve the document. Guttmacher expects that the document will be published this spring, most likely in Science or Nature magazine.

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